Page iv Publisher: Rochelle Deighton

Copyeditor: Julie Wicks

Proofreader: Meredith Lewin
Permissions Manager: Rachel Norton
Cover design: Christa Moffitt, christabella designs
NOTICE Internal design: David Rosemeyer
Medicine is an ever-changing science. As new research and clinical experience broaden our knowledge, changes in Author photograph: Gerrit Fokkema Photography
treatment and drug therapy are required. The editors and the publisher of this work have checked with sources Illustrators: Alan Laver/Shelly Communications and John Murtagh
believed to be reliable in their efforts to provide information that is complete and generally in accord with the Typeset by Straive
standards accepted at the time of publication. However, in view of the possibility of human error or changes in
medical sciences, neither the editors, nor the publisher, nor any other party who has been involved in the preparation
or publication of this work warrants that the information contained herein is in every respect accurate or complete.
Readers are encouraged to confirm the information contained herein with other sources. For example, and in
particular, readers are advised to check the product information sheet included in the package of each drug they plan
to administer to be certain that the information contained in this book is accurate and that changes have not been
made in the recommended dose or in the contraindications for administration. This recommendation is of particular
importance in connection with new or infrequently used drugs.

This eighth edition published 2022

First edition published 1994, second edition published 1998, third edition published 2003, fourth edition published
2007, fifth edition published 2011, sixth edition published 2015, seventh edition published 2018
Text © 2022 John Murtagh
Illustrations and design © 2022 McGraw-Hill Education (Australia) Pty Ltd

Additional owners of copyright are acknowledged in on-page credits/on the acknowledgments page.
Every effort has been made to trace and acknowledge copyrighted material. The authors and publishers tender their
apologies should any infringement have occurred.

Reproduction and communication for educational purposes

The Australian Copyright Act 1968 (the Act) allows a maximum of one chapter or 10% of the pages of this work,
whichever is the greater, to be reproduced and/or communicated by any educational institution for its educational
purposes provided that the institution (or the body that administers it) has sent a Statutory Educational notice to
Copyright Agency (CA) and been granted a licence. For details of statutory educational and other copyright licences
contact: Copyright Agency, 66 Goulburn Street, Sydney NSW 2000. Telephone: (02) 9394 7600.
Website: www.copyright.com.au

Reproduction and communication for other purposes

Apart from any fair dealing for the purposes of study, research, criticism or review, as permitted under the Act, no part
of this publication may be reproduced, distributed or transmitted in any form or by any means, or stored in a database
or retrieval system, without the written permission of McGraw-Hill Education (Australia) Pty Ltd, including, but not
limited to, any network or other electronic storage.
Enquiries should be made to the publisher via www.mheducation.com.au or marked for the attention of the
permissions editor at the address below.

National Library of Australia Cataloguing-in-Publication Data:

Authors: John Murtagh, Jill Rosenblatt, Justin Coleman, Clare Murtagh

Title: John Murtagh’s General Practice
Edition: 8th edition

Print ISBN: 9781743768235

eBook ISBN: 9781743768242

Published in Australia by
McGraw-Hill Education (Australia) Pty Ltd
Level 33, 680 George Street, Sydney NSW 2000
 Page v
The authors
Professor John Murtagh AO
MBBS, MD, BSc, BEd, FRACGP, DipObstRCOG
Emeritus Professor in General Practice, School of Primary Health, Monash University, Melbourne
Professorial Fellow, Department of General Practice, University of Melbourne
Adjunct Clinical Professor, Graduate School of Medicine, University of Notre Dame, Fremantle, Western Australia
John Murtagh was a science master teaching chemistry, biology and physics in Victorian
secondary schools when he was admitted to the first intake of the newly established Medical
School at Monash University, graduating in 1966. Following a comprehensive postgraduate
training program, which included surgical registrarship, he practised in partnership with his wife,
Dr Jill Rosenblatt, for 10 years in the rural community of Neerim South, Victoria.
He was appointed Senior Lecturer (part-time) in the Department of Community Medicine at
Monash University and eventually returned to Melbourne as a full-time Senior Lecturer. He was
appointed to a professorial chair in Community Medicine at Box Hill Hospital in 1988 and
subsequently as chairman of the extended department and Professor of General Practice in 1993
until retirement from this position in 2010. He now holds teaching positions as Emeritus
Professor in General Practice at Monash University, Adjunct Clinical Professor, University of
Notre Dame and Professorial Fellow, University of Melbourne. He achieved the Doctor of
Medicine degree in 1988 for his thesis ‘The management of back pain in general practice’.
He was appointed Associate Medical Editor of Australian Family Physician in 1980 and Medical
Editor in 1986, a position he held until 1995. In 1995 he was awarded the Officer of the Order of
Australia for services to medicine and to medical education in the field of general practice and to
professional groups.
One of his numerous publications, Practice Tips, was named as the British Medical
Association’s Best Primary Care Book Award in 2005. In the same year John Murtagh was
awarded the inaugural David de Kretser medal from Monash University for his exceptional
contribution to the Faculty of Medicine, Nursing and Health Sciences over a significant period of
time. Members of the Royal Australian -College of General Practitioners may know that the
honour of the namesake of the College library was bestowed upon him. In 2018 he was awarded
the Australian Medical Association’s Gold Medal for exceptional and long-standing commitment
and contribution to general practice and advancing the profession through medical education.
Today John Murtagh continues to enjoy active participation in medical education activities. His
vast experience with all medical groups has provided him with tremendous insights into their
needs, which is reflected in the culminated experience and wisdom of John Murtagh’s General
Practice.
Page vi
Dr Jill Rosenblatt
MBBS, FRACGP, DipObstRCOG, GradDipAppSci
Jill Rosenblatt graduated in medicine from the University of Melbourne in 1968. Following
terms as a resident medical officer she entered rural practice in Neerim South, Victoria, in
partnership with her husband John Murtagh. She was responsible for inpatient hospital care in
the Neerim District Bush Nursing Hospital and in the West Gippsland Base Hospital. Her special
interests were obstetrics, paediatrics and anaesthetics. Jill has also had a special interest in
Indigenous culture and health since she lived at Koonibba Mission in South Australia, where her
father was Superintendent.
After leaving rural life she came to Melbourne and joined the Ashwood Medical Group, where
she practised comprehensive general medicine, and care of the elderly in particular. She was
appointed Adjunct Senior Lecturer in the Department of General Practice at Monash University
in 1980 and a teacher in the GP registrar program.
She gained a Diploma of Sports Medicine (RACGP) in 1985 and a Graduate Diploma of Applied
Science in Nutritional and Environmental Medicine from Swinburne University of Technology
in 2001.
Jill Rosenblatt brings a wealth of diverse experience to the compilation of this textbook. This is
based on 50 years of experience in rural and metropolitan general practice. In addition, she has
served as clinical assistant to the Shepherd Foundation, the Menopause Clinics at Prince Henry’s
Hospital and Box Hill Hospital and the Department of Anaesthetics at Prince Henry’s Hospital.
Jill has served as an examiner for the RACGP for 39 years and for the Australian Medical
Council for 16 years. She was awarded a life membership of the Royal Australian College of
General Practitioners in 2010 and a Distinguished Service award of the College in 2014.
Dr Justin Coleman
MBBS, FRACGP, MPH
General Practitioner, Julanimawu Health Service, Wurrumiyanga, NT
Senior Lecturer, Flinders University Medical School
Medical Educator, NTGPE
Editorial Advisory Board, Diabetes Management Journal
Board Director, GP Supervisors Association Governance Board, ALIVE National Centre for Mental Health Research
Translation
Justin Coleman graduated from Melbourne University Medical School in 1992 and has
subsequently worked as a rural GP in Victoria, the remote NT and Brisbane, primarily in
Aboriginal and Torres Strait Islander health.
Soon after graduating, Justin began writing for the GP newspaper Medical Observer and Page vii
hasn’t stopped since. One of his weekly columns, ‘Handy Hints for GPs’, ran for 13
years. He writes regular humorous opinion columns.
Justin is a prolific writer for medical and non-medical readerships; he has published well over
1500 medical articles in around 50 different newspapers, magazines, books and journals. For five
years he served as President of the Australasian Medical Writers Association and he regularly
runs writing workshops for medical writers and academics.
Since completing a Master of Public Health (UQ 2011, first class hons), Justin has dedicated
much of his career to educating other GPs about how to improve various aspects of medical
practice. His interests include evidence-based medicine, the rational use of medical tests and
treatments, and dealing with uncertainty during a GP consultation. He represents the RACGP on
matters pertaining to conflicts of interest and fiercely guards his own independence, never having
accepted payment from a pharmaceutical or medical device company.
Over three decades, Justin has supervised hundreds of medical students and GP registrars. He has
taught in the medical schools of four universities and for a dozen medical education
organisations.
Justin edited his first medical book 25 years ago and has remained a medical editor ever since.
He completed a Writing and Editing program in 2010 (UQ, first class hons). He was editor of the
Diabetes Management Journal, writes and does peer reviews for the MJA, AJGP (formerly AFP)
and BMJ, and is a member of the Australasian Health and Medical journal Editors’ Network
(AHMEN).
Justin was honoured to be invited by Professor John Murtagh to help edit Australia’s seminal
textbook on general practice. This represents the grand intersection of every one of his
aforementioned interests.
Dr Clare Murtagh
MBBS, FRACGP
General Practitioner, Sydney
Clare Murtagh completed her medical studies at Monash University in 2007 and spent her early
career working in hospitals in Geelong and rural Victoria. Following experience as a medical
officer for trekkers in Nepal, she moved to Sydney where she completed her General Practice
training in 2013.
A passionate generalist, Clare has special interest in dermatology, women’s health and
paediatrics. She holds a Diploma of Dermatology and Certificates in Sexual and Reproductive
Health, and Medical Education. While practising at Your Doctors in Sydney’s inner west, she
has cared for a wide variety of patients and is an antenatal shared care provider.
In recent years, Clare has gained increasing experience in medical education as a supervisor of
training GPs and as an examiner for the RACGP. She has worked as a medical educator at GP
Synergy and is a lecturer on dermatology.
Clare has been an enthusiastic contributor to the ‘Women’s health’, ‘Sexual health’ and
‘Problems of the skin’ sections of the last three edition of Murtagh’s General Practice. As the
daughter of co-authors John Murtagh and Jill Rosenblatt, she has benefited from their mentorship
and appreciates the genesis and philosophy of the editorial direction of the textbook.
 Page viii award of Member of the Order of Australia (AM) awarded in 1996.

This edition retains the time-honoured framework that has made it the seminal text for GPs, GP
Foreword registrars and students of general practice worldwide. It is to general practice what ‘Harrisons’ is
to internal medicine.

In 1960 a young schoolmaster, then teaching biology and chemistry in a secondary school in
rural Victoria, decided to become a country doctor. He was part of the first intake of students
into the Medical School of the newly established Monash University, and at the end of his six-
year undergraduate medical course and subsequent intern and resident appointments his resolve
to practise community medicine remained firm. After more than a decade in country practice
with his life partner, Dr Jill Rosenblatt, during which he meticulously documented the cases he
treated, in 1977 John Murtagh took up an academic position in the new Department of General
Practice at Monash University. He subsequently moved through the ranks of Senior Lecturer,
Associate Professor and Professor, now enjoying the title of Emeritus Professor.
Through his writing, pedagogy and research, John Murtagh became a national and international
authority on the content and teaching of primary care medicine. It was during his tenure as
Medical Editor of Australian Family Physician from 1986 to 1995 that the journal became the
most widely read medical journal in Australia.
This textbook provides a distillate of the vast experience gained by a once rural doctor, whose
career has embraced teaching; whose abiding interest is in ensuring that disease, whether minor
or life-threatening, is recognised quickly; and whose concern is that strategies to match each
contingency are well understood.
The first edition of this book, published in 1994, achieved remarkable success on both the
national and international scene. The second and third editions built on this initial success and
the book has become known as the ‘bible of general practice’ in Australia. In addition to being
widely used by practising doctors, it has become a popular and standard textbook in several
medical schools and also in the teaching institutions for alternative health practitioners, such as
chiropractic, naturopathy and osteopathy. In particular, medical undergraduates and graduates
struggling to learn English have found the book relatively comprehensible. The fourth and fifth
editions were updated and expanded, retaining the successful, user-friendly format, including
clinical photography and illustrations in colour. Dr Jill Rosenblatt joined John in authoring and
editing the fifth, sixth and seventh editions. Two new author/editors in Dr Justin Coleman and Dr
Clare Murtagh subsequently joined the panel.
Although this edition retains the same format, it has a number of significant changes and
additions, including a strong emphasis on viral infections including the coronaviruses. Reflecting
John’s lifelong commitment to medical education, he has included more visual material, more
practical tips for day-to-day clinical practice and importantly, more on therapeutics supported by
references to Therapeutic Guidelines.
The expanded volume has necessitated a significant increase in references to original sources to
substantiate the evidence base within this text. As expected in contemporary texts, there is also
an abundance of online resources.
John Murtagh’s works, including this text, have been translated into Italian by McGraw-Hill
Libri Italia s.r.l., Portuguese by McGraw-Hill Nova Iorque and Spanish by McGraw-Hill
Interamericana Mexico and also into Chinese, Greek, Polish and Russian. In 2009 John
Murtagh’s General Practice was chosen by the Chinese Ministry of Health as the textbook to aid
the development of general practice in China. Now, 27 years since its beginning, the text is
available in 13 languages, most recently adding Farsi and Turkish translations. A truly
remarkable achievement.
GC SCHOFIELD
OBE, MD, ChB(NZ), DPhil(Oxon), FRACP, FRACMA, FAMA
Emeritus Professor of Anatomy
Dean of Medicine
Monash University, 1977–88
Leon Piterman AM (Foreword to the sixth, seventh and eighth editions)
MBBS, MD, MMed, MEdSt, FRCP(Edin), FRACGP
Professor of General Practice,
Monash University

Having known John and worked with him for more than three decades, I feel privileged to write
this foreword to the eighth edition, adding to earlier forewords by the late Professor Schofield.
During this 27-year period I have watched each edition blossom, only to be superseded by a
bigger and better replacement. John Murtagh has become a legend nationally and internationally,
and in a 2012 Medical Observer survey he was voted the most revered Australian doctor, ahead
of Fred Hollows and Victor Chang. Most recently, in 2018 John was awarded the Australian
Medical Association’s highest honour, the AMA Gold Medal for his ‘contribution to medicine
and general practice as a doctor and educator’. In addition, in 2019 he became an Officer of the
Order of Australia (AO) for his contribution to scholarship in General Practice, superseding his
 Page ix Chapter 20 Infections of the central nervous system 198
Chapter 21 Connective tissue disease and the systemic vasculitides 204
Contents Chapter 22 Neurological dilemmas 214
Chapter 23 Genetic conditions 232
The authors v Part 3 Presenting symptoms and problem solving in general practice 253
Foreword viii
Acknowledgments xi
Chapter 24 Abdominal pain 254
Preface xii Chapter 25 Arthritis 276
Making the most of your book xiii
Chapter 26 Anorectal disorders 299
Reviewers xvii
Laboratory reference values xx
Chapter 27 Thoracic back pain 308
Normal values: worth knowing by heart xxii Chapter 28 Low back pain 321
Abbreviations xxiii
Chapter 29 Bruising and bleeding 341
Part 1 The basis of general practice 1 Chapter 30 Chest pain 351
Chapter 1 The nature, scope and content of general practice 2 Chapter 31 Constipation 373
Chapter 2 Consulting skills 9 Chapter 32 Cough 385
Chapter 3 Communication skills 15 Chapter 33 Deafness and hearing loss 400
Chapter 4 Counselling skills 23 Chapter 34 Diarrhoea 410
Chapter 5 Health promotion and patient education 36 Chapter 35 Dizziness/vertigo 429
Chapter 6 Prevention in general practice 45 Chapter 36 Dyspepsia (indigestion) 439
Chapter 7 Research and evidence-based medicine 56 Chapter 37 Dysphagia 450
Chapter 8 Inspection as a clinical skill 65 Chapter 38 Dyspnoea 455
Part 2 Diagnostic perspective in general practice 71 Chapter 39 The painful ear 468
Chapter 40 The red and tender eye 482
Chapter 9 A safe diagnostic model 72
Chapter 10 Depression 81 Chapter 41 Pain in the face 498
Chapter 42 Fever and chills 509
Chapter 11 Diabetes mellitus 91
Chapter 43 Faints, fits and funny turns 519
Chapter 12 Drug and alcohol problems 109
Chapter 44 Haematemesis and melaena 534
Chapter 13 Anaemia 126
Chapter 14 Endocrine and metabolic disorders 134 Chapter 45 Headache 537
Chapter 46 Hoarseness 555
Chapter 15 Spinal dysfunction 147
Chapter 47 Jaundice 559
Chapter 16 Urinary tract infection 150
Chapter 17 Malignant disease 159 Chapter 48 Nasal disorders 577

Chapter 18 Baffling viral and protozoal infections 168 Chapter 49 Nausea and vomiting 588
Chapter 50 Neck lumps 594
Chapter 19 Baffling bacterial infections 184
Chapter 51 Neck pain 599 Chapter 81 Osteoporosis 937
Chapter 52 Shoulder pain 613 Chapter 82 Chronic pain 942
Chapter 53 Pain in the arm and hand 627 Part 6 Child and adolescent health 951
Chapter 54 Hip, buttock and groin pain 644
Chapter 83 An approach to the child 952
Chapter 55 Pain in the leg 657
Chapter 84 Specific problems of children 962
Chapter 56 The painful knee 675
Chapter 85 Surgical problems in children 977
Chapter 57 Pain in the foot and ankle 696
Chapter 86 Common childhood infectious diseases (including skin eruptions) 988
Chapter 58 Walking difficulty and leg swelling 714
Chapter 87 Behavioural and developmental issues and disorders in children 1001
Chapter 59 Palpitations 721
Chapter 88 Child abuse 1014
Chapter 60 Sleep disorders 735
Chapter 89 Emergencies in children 1022
Chapter 61 Sore mouth and tongue 746
Chapter 90 Adolescent health 1037
Chapter 62 Sore throat 757
Part 7 Women’s health 1045
Chapter 63 Tiredness/fatigue 766
Chapter 64 The unconscious patient 774 Chapter 91 Cervical cancer screening 1046

Chapter 65 Urinary disorders 783 Chapter 92 Family planning 1054

Chapter 66 Visual failure 795 Chapter 93 Breast disorders 1065

Chapter 67 Weight change 808 Chapter 94 Abnormal uterine bleeding 1082

Page x
Chapter 95 Lower abdominal and pelvic pain in women 1089
Part 4 Mental health 819
Chapter 96 Premenstrual syndrome 1101
Chapter 68 Depression and other mood disorders 820
Chapter 97 The menopause 1105
Chapter 69 The disturbed patient 825
Chapter 98 Vaginal discharge 1113
Chapter 70 Anxiety disorders 841
Chapter 99 Vulvar disorders 1122
Chapter 71 Difficult behaviours 850
Chapter 100 Basic antenatal care 1130
Part 5 Chronic disease management 859 Chapter 101 Postnatal care 1139
Chapter 72 Allergic disorders including hay fever 860 Part 8 Men’s health 1149
Chapter 73 Asthma 868
Chapter 102 Men’s health: an overview 1150
Chapter 74 Chronic obstructive pulmonary disease 881
Chapter 103 Scrotal pain 1154
Chapter 75 Cardiovascular disease 889
Chapter 104 Inguinoscrotal lumps 1159
Chapter 76 Chronic heart failure 893
Chapter 105 Disorders of the penis 1169
Chapter 77 Hypertension 901
Chapter 106 Disorders of the prostate 1177
Chapter 78 Dyslipidaemia 918
Part 9 Sexual health 1187
Chapter 79 Chronic kidney disease 923
Chapter 80 Obesity 931 Chapter 107 The subfertile couple 1188
Chapter 108 Sexual health 1196 Page xi

Chapter 109 Sexually transmitted infections 1206

Chapter 110 Intimate partner violence and sexual assault 1218 Acknowledgments
Part 10 Problems of the skin 1225

Chapter 111 A diagnostic and management approach to skin problems 1226

Professor Murtagh would like to thank the Publication Division of the Royal Australian College
Chapter 112 Pruritus 1236 of General Practitioners for supporting his past role as Medical Editor of Australian Family
Chapter 113 Common skin problems 1246 Physician, which provided an excellent opportunity to gather material for this book.
Acknowledgment is also due to those medical organisations that have given permission to use
Chapter 114 Acute skin eruptions 1268 selected information from their publications. They include the Preventive and Community
Chapter 115 Skin ulcers 1280 Medicine committee of the RACGP (Guidelines for Preventive Activities in General Practice),
Therapeutic Guidelines Limited, the Hypertension Guideline Committee: Research Unit RACGP
Chapter 116 Common lumps and bumps 1290
(South Australian Faculty) and the Medical Observer, publishers of A Manual for Primary
Chapter 117 Pigmented skin lesions 1308 Health Care, for permitting reproduction of Appendices I–IV.
Chapter 118 Hair disorders 1317
For decades, Therapeutic Guidelines (TG) has set the gold standard for practice guidelines,
Chapter 119 Nail disorders 1328 beginning with the benchmark antibiotic guidelines. The panels for the various disciplines
include experts from many fields whose collective wisdom and evidence base in their
Part 11 Accident and emergency medicine 1339 deliberations inspires confidence and authority for treatment decisions. General practitioners also
Chapter 120 Emergency care 1340 have input in the panels. The authors of Murtagh’s General Practice wish to thank Therapeutic
Guidelines Limited for the outstanding information which provides an authoritative framework
Chapter 121 Stroke and transient ischaemic attacks 1361 for our publication. Therapeutic Guidelines is the ultimate therapeutic reference across all
Chapter 122 Thrombosis and thromboembolism 1368 categories, from analgesics and antibiotics to ulcers and wound management.
Chapter 123 Common skin wounds and foreign bodies 1374 Special thanks to the late Chris Sorrell for his art illustration, and to Nicki Cooper, Jenny Green
Chapter 124 Common fractures and dislocations 1388 and Caroline Menara for their skill and patience in typing the manuscript.

Part 12 Health of specific groups 1411 Many of the quotations at the beginning of chapters appear in either Robert Wilkins (ed), The
Doctor’s Quotation Book, Robert Hale Ltd, London, 1991, or Maurice B. Strauss (ed), Familiar
Chapter 125 The elderly patient 1412 Medical Quotations, Little, Brown & Co., New York, 1958.
Chapter 126 End of life/palliative care 1428
Thanks also to Professor Roger Pepperell, Dr Bruce Mugford, Dr Lucie Stanford, Dr Mohammad
Chapter 127 The health of Aboriginal and Torres Strait Islander peoples 1438 Shafeeq Lone, Dr Brian Bedkobar for content advice and Professor Chris White for technical
Chapter 128 Refugee health 1447 support, Dr Ebrahim Pishan, Dr Joseph Turner and Lesley Rowe for reviewing the manuscript,
and to the publishing and production team at McGraw-Hill Education (Australia) for their
Chapter 129 Travellers’ health and tropical medicine 1455 patience and assistance in so many ways.

Appendix 1478
Finally, thanks to Dr Ndidi Victor Ikealumba for his expert review of General Practice sixth
Index 1483
edition, tropical medicine and his subsequent contribution.

Photo credits
Figure 31.4, p. 383 is used with permission from Harrison’s Principles of Internal Medicine 20th
edn (2018) by JL Jameson, AS Fauci, DL Kasper, SL Hauser, DL Longo and J Loscalzo,
McGraw-Hill Education US. Dr Peter Ryan: Figure 21.4, p. 209.

Figure 124.11, p. 1398 is used with permission from Clinical Sports Medicine 4th edn (2009) by
P Brukner and K Khan, McGraw-Hill Educations (Australia)
Figure 28.6, p. 328 is used with permission from Practical Office Orthopedics (2017) by E Parks,
McGraw-Hill Education US.
Dr Marissa Lassere: Figure 21.5, p. 209.
Professor John Masterton: Figure 25.12, p. 292; Figure 26.2, p. 300; Figure 26.3, p. 302.
Bruce Black: Figure 39.8, p. 474; Figure 39.10, p. 476.

Photographs appearing on the pages below are from The Colour Atlas of Family Medicine (2008) John Colvin and Joseph Reith: Figure 40.2, p. 487; Figure 40.3, p. 487; Figure 40.4, p. 488;
and 2nd edn (2013) and The Color Atlas and Synopsis of Family Medicine 3rd edn (2019) by RP Figure 40.5, p. 489; Figure 40.8, p. 491; Figure 40.12, p. 493; Figure 40.14, p. 493.
Usatine, MA Smith, EJ Mayeaux Jr and H Chumley, McGraw-Hill Education US, with the kind
permission of the following people: Robin Marks: Figure 57.13, p. 710; Figure 112.10, p. 1243; Figure 116.17, p. 1300.

Dr Richard P Usatine: Figure 119.7 (photo), p. 1330. Dr Peter Couran: Figure 113.15, p. 1260.

Dr Richard P Usatine, 2e: Figure 61.1, p. 747; Figure 61.2, p. 749; Figure 61.8, p. 755; Figure Dr John Troller: Figure 116.9, p. 1297.
116.21, p. 1302.

Dr Richard P Usatine, 3e: Figure 8.3, p. 68; Figure 25.5, p. 284; Figure 30.13, p. 362; Figure
39.12, p. 478; Figure 61.6, p. 752; Figures 84.6 and 84.7, p. 971; Figure 84.8, p. 972; Figure
93.5, p. 1071; Figure 98.5, p. 1119; Figure 99.1, p. 1124; Figure 109.5, p. 1214; Figure 113.11,
p. 1258; Figure 117.2, p. 1310; Figures 118.5 and 118.6, p. 1324; Figure 119.7 (photo), p. 1330.

Dr William Clark: Figure 39.3, p. 471; Figure 39.6, p. 472; Figure 39.7, p. 473; Figure 48.1, p.
580.

Frontline Medical Communications: Figure 88.4, p. 1019; Figure 115.6, p. 1288. Page xii

Paul D. Comeau: Figure 40.6, p. 489.

DEA: Figure 12.6, p. 117.

Dr Nicolette Deveneau: Figure 93.2, p. 1069.

Javier La Fontaine DPM: Figure 115.5, p. 1287.

Dr Michelle Rowe: Figure 12.5, p. 117.

Dr C. Blake Simpson: Figure 46.1, p. 557.

Dr Marc Solioz: Figure 8.1, p. 66.

Dr Eric Kraus: Figure 112.5, p. 1240.

Dr Hugh Newton-John: Figure 9.1, p. 73; Figure 20.4, p. 200; Figure 50.3, p. 59.7; Figure 86.3,
p. 991.

Professor Barry Firkin and Professor Hatem Salem: Figure 9.4, p. 77.
 Page xiii international medical graduate and the medical student in mind. However, all primary-care
practitioners will gain useful information from the book’s content.

Preface

The discipline of general practice has become complex, expansive and challenging, but
nevertheless remains manageable, fascinating and rewarding. John Murtagh’s General Practice
attempts to address the issue of the base of knowledge and skills required in modern general
practice. Some of the basics of primary healthcare remain the same. In fact, there is an
everlasting identity about many of the medical problems that affect human beings, be it a splinter
under a nail, a stye of the eyelid, a terminal illness or simply stress-related anxiety. Many of the
treatments and approaches to caring management are universal and timeless.

This text covers a mix of traditional and modern practice with an emphasis on the importance of
clinical reasoning, early diagnosis, strategies for solving common presenting problems,
continuing care, holistic management and ‘tricks of the trade’. One feature of our discipline is the
patient who presents with undifferentiated problems featuring an overlap of organic and
psychosocial components. There is the constant challenge to make an early diagnosis and
identify the ever-lurking, life-threatening illness. Hence the ‘must not be missed’ catch cry
throughout the text. To reinforce this awareness, ‘red flag pointers’ to serious disease are
included where appropriate. The general practice diagnostic model, which pervades all the
chapters on problem solving, is based on the authors’ experience, but readers can draw on their
own experience to make the model work effectively for themselves.

This eighth edition expands on the challenging initiative of diagnostic triads (or tetrads), which
act as a brief aide-memoire to assist in identifying a disorder from three (or four) key symptoms
or signs. A particular challenge in the preparation of the text was to identify as much appropriate
and credible evidence-based information as relevant. This material, which still has its limitations,
has been combined with considerable collective wisdom from experts, especially from the
Therapeutic Guidelines series. A key objective of this publication is to achieve a balance
between science and the art of general practice. To provide updated accuracy and credibility, the
authors have had the relevant chapters peer reviewed by independent experts in the respective
disciplines. These consultants are acknowledged in the reviewers section. The revised editions
also have the advantage of co-authorship from experienced general practitioner Dr Jill
Rosenblatt. Additional authors include Dr Clare Murtagh, a general practitioner with experience
in medical education, and Dr Justin Coleman, past president of the Australasian Medical Writers
Association with special interests in ‘Choosing wisely’ programs and evidence-based medicine.

A comprehensive book such as this one, which presents a basic overview of primary medicine,
cannot possibly cover all the medical problems likely to be encountered. An attempt has been
made, however, to focus on problems that are common, significant, preventable and treatable.
Recent content includes expanded material on genetic disorders and infectious diseases,
particularly coronaviruses and acute respiratory distress syndrome.

John Murtagh’s General Practice is written as a user-friendly text with the recent graduate, the
 Page xiv

Making the most of your book

Diagnostic strategy models

Diagnostic strategy models for common presenting problems form the backbone of this
book. General Practice is renowned for this unique and powerful learning feature, which
was introduced in the first edition.

The staff of Asclepius

The staff of Asclepius icon highlights diseases for when you are specifically searching
for information on a particular disease.

Key facts and checkpoints

Page xv
Key facts and checkpoints provide accurate statistics and local and global contexts.
Red and yellow flags
Red and yellow flags alert you to potential dangers. Red is the most urgent, but yellow
also requires careful consideration.
 Seven masquerades checklist
This unique feature of the book reminds you of potential and hidden dangers underlying
patient presentations.

Clinical framework
Clinical framework based on major steps of clinical features, investigations, diagnosis,
management and treatment reflects the key activities in the daily tasks of general
practitioners.
Diagnostic triads
Key features that may discriminate between one disease and another are clearly
presented.

Page xvi

Evidence-based research
Evidence-based research is recognised with a full chapter on research in general
practice and evidence base, including more on qualitative models. In addition,
substantial references are provided for every chapter.
Extensive coverage of paediatric and geriatric care, pregnancy
and complementary therapies Practice tips
Practice tips consist of key points that are of use in the clinical setting.
Extensive coverage of paediatric and geriatric care, pregnancy and complementary
therapies is integrated throughout, as well as devoted chapter content providing more
comprehensive information in these areas.

Page xvii

Clinical photos
Clinical photos provide authentic, visual examples of many conditions and serve as
either a valuable introduction or confirmation of diagnosis.
Full colour illustrations
Full colour illustrations are provided, with more than 600 diagrams in the clean, simple
style that has proved so popular.

Patient education resources

Indicates where you can find relevant information from Murtagh’s Patient Education,
eighth edition, to photocopy and hand out to patients.
Significantly enhanced index
The index has more sub-categories with bold page numbers indicating the main
treatment of a topic, enabling you to quickly pinpoint the most relevant information.
Page numbers in italics refer to figures and tables. Entries with ‘see also’ have cross-
references to related, but more specific information on the topic.
 Page xviii
Dr Gary Grossbard the painful knee
Dr Eliza Hannam postnatal care
Reviewers Dr Peter Hardy-Smith the red and tender eye; visual failure
Associate Professor Peter Holmes cough; dyspnoea; asthma; COPD
Professor Michael Kidd, Dr Ron McCoy and Dr human immunodeficiency virus infection
Content consultants Alex Welborn
Professor Gab Kovacs abnormal uterine bleeding; the subfertile couple
The authors are indebted to the many consultants who reviewed parts of the manuscript relevant
to their areas of expertise and provided help and advice. Professor Even Laerum research in general practice
Mr Peter Lawson (deceased), Dr Sanjiva men’s health, disorders of the penis, prostatic disorders,
Dr Marion Bailes, Dr Joanne Gardiner and Dr refugee health Wijesinha and Dr Andrew Pattison
Kate Walker scrotal pain, inguinoscrotal lumps
Associate Professor Deborah Bateson family planning Dr Jessica Lowe cervical cancer screening
Dr Roy Beran epilepsy; neurological dilemmas Dr Peter Lowthian arthritis
Dr James Best depression, anxiety, male health, child and adolescent Mr Frank Lyons common fractures and dislocations
health, communication skills Dr John Mackellar child abuse and domestic violence
Dr Clare Boema family planning Dr Linda Mann basic antenatal care
Dr John Boxall palpitations Professor Barry McGrath hypertension
Dr Penny Burns disaster medicine, pandemics Dr Joe McKendrick malignant disease
Dr Jill Cargnello hair disorders Dr Kim Matthews the subfertile couple
Dr Belinda Chan breast disorders Dr Luke Murtagh pain and its management
Dr Paul Coughlin and Professor Hatem Salem bruising and bleeding; thrombosis and Professor Robyn O’Hehir allergic disorders, including hayfever
thromboembolism
Dr Michael Oldmeadow tiredness
Mr Rod Dalziel shoulder pain
Dr Frank Panetta chest pain
Dr David Dilley pain in the arm and hand
Dr Geoff Quail pain in the face, sore mouth and tongue
Dr David Dunn and Dr Hung The Nguyen the health of Indigenous peoples
Mr Ronald Quirk pain in the foot and ankle
Dr Robert Dunne common skin wounds and foreign bodies
Dr Ian Rogers emergency care
Associate Professor John Eden the menopause
Professor Avni Sali abdominal pain, lumps in the breast, jaundice,
Professor Jon Emery genetic disorders, malignant disease constipation, dyspepsia, nutrition
Dr Fiona Fargie sexually transmitted infections Dr Stanley Santiagu and Dr Jemma Dalrymple abnormal uterine bleeding
Genetic Health Services, Victoria genetic disorders Dr Ronald Schweitzer intimate partner violence and sexual assault
Dr Lindsay Grayson and Associate Professor travel medicine, the returned traveller and tropical Dr Deshan Sebaratnam and Dr Margit Polcz problems of the skin
Joseph Torresi
medicine
Dr Heidi Spillane sexual health
Mr John Griffiths pain in the hip and buttock
Dr Hugo Standish urinary tract infection, chronic kidney failure
Professor Michael Grigg pain in the leg
Dr Richard Stark neurological diagnostic triads Page xx
Dr Liz Sturgiss obesity
Professor Geoff Sussman skin ulcers Laboratory reference values
Dr Paul Tallman stroke and transient ischaemic attacks
Dr Alison Walsh breastfeeding, postnatal breast disorders These reference values and ranges are given in the system of international units (SI) and may vary from laboratory to
laboratory.
Professor Greg Whelan alcohol problems, drug problems
An asterisk (*) indicates that paediatric reference ranges differ from the adult range given.
Dr Lynne Wray vaginal discharge, vulvar disorders
Dr Alan Yung fever and chills, sore throat Electrolytes/renal
Dr Ronnie Yuen Sodium 135–145 mmol/L
diabetes mellitus, thyroid and other endocrine disorders
Potassium* 3.5–5.0 mmol/L
Page xix
Chloride 95–110 mmol/L
Bicarbonate 23–32 mmol/L
Urea 3–8.0 mmol/L
Creatinine ♀ 50–110;
♂ 60–120 μmol/L
eGFR >60 mL/min/1.72 m2

Calcium* 2.10–2.60 mmol/L (total)

Phosphate 0.90–1.35 mmol/L
Magnesium* 0.65–1.00 mmol/L
Uric acid* ♀ 0.12–0.40;
♂ 0.15–0.45 mmol/L

Liver function/pancreas
Bilirubin* <20 μmol/L (total)
<3 μmol/L (direct)
AST* <40 U/L
GGT* ♀ <30; ♂ <50 U/L
Alkaline phosphatase (ALP)* 25–100 U/L
Total protein 60–80 g/L
Albumin 38–50 g/L
Amylase 30–110 U/L
Lipase <100 U/L

Glucose
Glucose fasting 3–5.4 mmol/L
Glucose random 3–7.7 mmol/L
HbA1c 4.7–6.1%
Haematology LDL cholesterol 2–3.4 mmol/L
Hb* ♀ 115–165; ♂ 130–180 g/L
PCV* ♀ 37–47; ♂ 40–54%
MCV* 80–100 fL
Thyroid tests
Reticulocytes 0.5–2.0% Free T4 10.0–25.0 pmol/L
White cells 4.0–11.0 × 109/L
Ultra–sensitive TSH* 0.4–5.0 mU/L
Platelets 150–400 × 109/L Free T3 3.3–8.2 pmol/L
ESR <20 mm; <35mm if >70 years
Band neutrophils* (0.05 × 109/L)

Mature neutrophils* (2.0–7.5 × 109/L) Other endocrine tests

Lymphocytes* (1.0–4.0 × 109/L) s Cortisol 8 am 130–700 nmol/L

Monocytes* (0.2–0.8 × 109/L) 4 pm 80–350 nmol/L

1–9 IU/L (adult ♀)
Eosinophils* (0.0–0.4 × 109/L) FSH 10–30 IU/L (ovulation)
4–200 IU/L (postmenopausal)
Folate serum 7–45 nmol/L, red cell 360–1400 nmol/L
Oestradiol menopausal <200 pmol/L
s Vitamin B12 (150–700 pmol/L)
Testosterone ♀ <3.5; ♂ 10–35 nmol/L

Page xxi

Coagulation
Tumour markers
Bleeding time 2.0–8.5 min
PSA 0–1.0 mcg/L
Fibrinogen 2.0–4.0 g/L
CEA <7.5 mcg/L
Prothrombin time sec.
AFT <10 mcg/mL
Prothrombin ratio INR 1.0–1.2
CA–125 <35 U/mL
APTT 25–35 sec
D-dimer <500 mg/mL

Iron studies
Ferritin ♀ 15–200; ♂ 30–300 mcg/L
Others Iron 10–30 μmol/L
s Creatine phospho kinase <90 U/L
Iron–binding capacity 45–80 μmol/L
s Lead <2 μmol/L
Transferrin 2–3.5 g/L
s C–reactive protein <10 mg/L
Transferrin saturation ♀ 15–45%; ♂ 15–55%
Vitamin D >75 mmol/L

Blood gases/arterial
Cardiac/lipids pH* 7.38–7.43
Troponin I or T <0.1 ug/L
PaO2* 85–105 mmHg
CK total ♀ <200; ♂ <220 U/L
PaCO2* 36–44 mmHg
CK-MB <25 U/L
Bicarbonate* 20–28 mmol/L
Cholesterol* <5.5 mmol/L
Base excess* –3 to +3 mmol/L
Triglycerides* <1.7 mmol/L
HDL cholesterol ♀ 1–2.2; ♂ 0.9–2.0 mmol/L
 Page xxii Anaemia—haemoglobin
Males < 130 g/L
Females < 120 g/L
Normal values: worth knowing by heart Body mass index Wt (kg)/Ht (m2)
Normal 20–25
Overweight > 25
The following is a checklist that can be used as a template to memorise normal quantitative values for basic medical Obesity > 30
conditions and management.

Vital signs (average) < 6 months 6 months – 3 years 3 – 12 years Adult

Pulse 120–140 110 80 – 100 60 – 100
Respiratory rate 45 30 20 14
BP (mmHg) 90/60 90/60 100/70 ≤ 130/85

Children’s weight 1–10 years

Rule of thumb: Wt = (age + 4) × 2 kg

Fever—temperature (morning)(a)
(a) There is considerable diurnal variation in temperature so that it is higher in the evening (0.5–1°C). I would
recommend the definition given by Yung et al. in Infectious Diseases: a Clinical Approach: ‘Fever can be defined
as an early morning oral temperature > 37.2°C or a temperature > 37.8°C at other times of the day’. Dangerous ≥
41.5°C.
Oral > 37.2°C
Rectal > 37.7°C
Diabetes mellitus—Diagnostic criteria: blood sugar
Random > 11.1 mmol/L
1 reading if symptomatic
2 readings if asymptomatic
Fasting > 7.0 mmol/L
or the 2 values from an oral GTT
Hypokalaemia
Serum potassium < 3.5 mmol/L
Jaundice
Serum bilirubin > 19 µmol/L
Hyperkalaemia
Serum potassium > 5.0 mmol/L
Hypertension
BP > 140/90 mmHg
Alcohol excessive drinking
Males > 4 standard drinks/day
Females > 2 standard drinks/day
Alcohol health guidelines (NHMRC)
Males and females ≤ 10 standard drinks/week
< 4 standard drinks/occasion
 Page xxiii ARR absolute risk reduction
ART anti-retroviral therapy
ASD atrial septal defect
ASIS anterior superior iliac spine
Abbreviations ASOT antistreptolysin 0 titre
AST aspartate aminotransferase
ATFL anterior talofibular ligament
AV atrioventricular
AVM arteriovenous malformation
AAA abdominal aortic aneurysm
AZT azidothymidine
AAFP American Academy of Family Physicians
ABA Australian Breastfeeding Association
ABC airway, breathing, circulation
ABCD airway, breathing, circulation, dextrose BC bone conduction
ABFP American Board of Family Practice BCC basal cell carcinoma
ABI ankle brachial index BCG bacille Calmette–Guérin
ABO A, B and O blood groups bDMARDs biological disease modifying antirheumatic drugs
AC air conduction BMD bone mass density
AC acromioclavicular BMI body mass index
ACAH autoimmune chronic active hepatitis BNP B-type natriuretic peptide
ACE angiotensin-converting enzyme BOO bladder outlet obstruction
ACL anterior cruciate ligament BP blood pressure
ACR albumin creatine ratio BPH benign prostatic hyperplasia
ACTH adrenocorticotrophic hormone bpm beats per minute
AD aortic dissection BPPV benign paroxysmal positional vertigo
AD autosomal dominant BSE breast self-examination
ADHD attention deficit hyperactivity disorder
ADLs activities of daily living
ADT adult diphtheria vaccine Ca carcinoma Page xxiv
AF atrial fibrillation CABG coronary artery bypass grafting
AFI amniotic fluid index CAD coronary artery disease
AFP alpha-fetoprotein CAP community-acquired pneumonia
AI aortic incompetence CBE clinical breast examination
AICD automatic implantable cardiac defibrillator CBT cognitive behaviour therapy
AIDS acquired immunodeficiency syndrome CCB calcium-channel blocker
AIIRA angiotension II(2) reuptake antagonist CCF congestive cardiac failure
AKF acute kidney failure CCP cyclic citrinullated peptide
ALE average life expectancy CCT controlled clinical trial
ALL acute lymphocytic leukaemia CCU coronary care unit
ALP alkaline phosphatase CD4 T helper cell
ALT alanine aminotransferase CD8 T suppressor cell
ALTE apparent life-threatening episode CDT combined diphtheria/tetanus vaccine
AMI acute myocardial infarction CEA carcinoembryonic antigen
AML acute myeloid leukaemia CFL calcaneofibular ligament
ANA antinuclear antibody CFS chronic fatigue syndrome
ANCA antineutrophil cytoplasmic antibody cfu colony forming unit
ANF antinuclear factor CHC combined hormonal contraception
a/n/v anorexia/nausea/vomiting CHD coronary heart disease
AP anterior–posterior CHF chronic heart failure
APF Australian pharmaceutical formulary CI confidence interval
APH ante-partum haemorrhage CIN cervical intraepithelial neoplasia
APRI AST to platelet ratio index CJD Creutzfeldt–Jakob disease
aPTT activated partial thromboplastin time CK creatinine kinase
AR autosomal recessive CK– creatinine kinase–myocardial bound fraction
ARB angiotension II receptor blocker MB
ARC AIDS-related complex CKD chronic kidney disease
ARDS adult respiratory distress syndrome CKF chronic kidney failure
CMC carpometacarpal DOACs direct acting anti-coagulants
CML chronic myeloid leukaemia DOM direction of movement
CMV cytomegalovirus DRE digital rectal examination
CNS central nervous system DRABC defibrillation, resuscitation, airway, breathing, circulation
co compound drug bd—twice daily; tid, tds—three times
COAD chronic obstructive airways disease dosage daily; qid—four times daily
COC combined oral contraceptive ds double strand
COCP combined oral contraceptive pill DS double strength
COMT catechol-O-methyl transferase DSM diagnostic and statistical manual (of mental disorders)
COPD chronic obstructive pulmonary disease DU duodenal ulcer
COX cyclooxygenase DUB dysfunctional uterine bleeding
CPA cardiopulmonary arrest DVT deep venous thrombosis
CPAP continuous positive airways pressure DxT diagnostic triad
CPK creatine phosphokinase
CPPD calcium pyrophosphate dihydrate
CPR cardiopulmonary resuscitation EAR expired air resuscitation Page xxv
CPS complex partial seizures EBM Epstein–Barr mononucleosis (glandular fever)
CR controlled release EBNA Epstein–Barr nuclear antigen
CRD computerised reference database system EBV Epstein–Barr virus
CREST calcinosis cutis; Raynaud phenomenon; oesophageal involvement; sclerodactyly; ECC external chest compression
telangiectasia ECG electrocardiogram
CRF chronic renal failure ECT electroconvulsive therapy
CRFM chloroquine-resistant falciparum malaria ED emergency department
CRH corticotrophin-releasing hormone EDD expected due date
CR(K)F chronic renal (kidney) failure EEG electroencephalogram
CRP C-reactive protein ELISA enzyme-linked immunosorbent assay
CSF cerebrospinal fluid EMG electromyogram
CSFM chloroquine-sensitive falciparum malaria ENA extractable nuclear antigen
CSIs COX-2 specific inhibitors EO ethinyloestradiol
CSU catheter specimen of urine EPA eicosapentaenoic acid
CT computerised tomography EPL extensor pollicis longus
CTD connective tissue disorder EPS expressed prostatic secretions
CTG cardiotocograph ER external rotation
CTS carpal tunnel syndrome ESRF end-stage renal failure
CVA cerebrovascular accident ESR(K)F end-stage renal (kidney) failure
CVS cardiovascular system ERCP endoscopic retrograde cholangiopancreatography
CXR chest X-ray esp. especially
ESR erythrocyte sedimentation rate
ET embryo transfer
DAA direct-acting antivirals ETT endotracheal tube
DBP diastolic blood pressure
DC direct current
DDAVP desmopressin acetate FAD familial Alzheimer disease
DDH developmental dysplasia of the hip FAI femeroacetabular impingement
DDP dipeptidyl peptidase FAP familial adenomatous polyposis
DEXA dual energy X-ray absorptiometry FB foreign body
DHA docosahexaenoic acid FBE full blood count
DHEA dihydroepiandrosterone FDIU fetal death in utero
DI diabetes insipidus FDL flexor digitorum longus
DIC disseminated intravascular coagulation FEV1 forced expiratory volume in 1 second
DIDA di-imino diacetic acid
FHL flexor hallucis longus
DIMS disorders of initiating and maintaining sleep
fL femto-litre (10–15)
DIP distal interphalangeal
dL decilitre FOBT faecal occult blood test
DMARDs disease modifying antirheumatic drugs FRAX fracture risk assessment tool
DNA deoxyribose-nucleic acid FRC functional residual capacity
FSH follicle stimulating hormone
FTA–ABS fluorescent treponemal antibody absorption test HRT hormone replacement therapy
FTT failure to thrive HSIL high-grade squamous intraepithelial lesion
FUO fever of undetermined origin HSP Henoch–Schönlein purpura
FVC forced vital capacity HSV herpes simplex viral infection
FXS fragile X syndrome H hypertension

g gram IBS irritable bowel syndrome Page xxvi

GA general anaesthetic ICE ice, compression, elevation
GABHS group A beta-haemolytic streptococcus ICHPPC International Classification of Health Problems in Primary Care
GBS Guillain–Barré syndrome ICS inhaled corticosteroid
GCA giant cell arteritis ICS intercondylar separation
GESA Gastroenterological Society of Australia ICSI intracytoplasmic sperm injection
GFR glomerular filtration rate ICT immunochromatographic test
GGT gamma-glutamyl transferase IDDM insulin dependent diabetes mellitus
GHJ glenohumeral joint IDU injecting drug user
GI glycaemic index IgA immunoglobulin A
GIFT gamete intrafallopian transfer IgE immunoglobulin E
GIT gastrointestinal tract IgG immunoglobulin G
GLP glucagon-like peptide IgM immunoglobulin M
GnRH gonadotrophin-releasing hormone IGRA interferon gamma release assay
GO gastro-oesophageal IHD ischaemic heart disease
GORD gastro-oesophageal reflux disease IHS International Headache Society
GP general practitioner IM, IMI intramuscular injection
G-6-PD glucose-6-phosphate dehydrogenase IMS intermalleolar separation
GSI genuine stress incontinence inc. including
GU gastric ulcer INCS intranasal corticosteroids
GV growth velocity INR international normalised ratio
IOC International Olympic Committee
IOFB intraocular foreign body
HAV hepatitis A virus IP interphalangeal
anti-HAV hepatitis A antibody IPPV intermittent positive pressure variation
Hb haemoglobin IR internal rotation or immediate release
HbA haemoglobin A ITP idiopathic (or immune) thrombocytopenia purpura
anti-HBc hepatitis B core antibody IUCD intrauterine contraceptive device
HBeAg hepatitis Be antigen IUGR intrauterine growth retardation
anti-HBs hepatits B surface antibody IV intravenous
HBsAg hepatitis B surface antigen IVF in-vitro fertilisation
HBV hepatitis B virus IVI intravenous injection
HCG human chorionic gonadotropin IVP intravenous pyelogram
HCV hepatitis C virus IVU intravenous urogram
anti-HCV hepatitis C virus antibody
HDL high-density lipoprotein
HDV hepatitis D (Delta) virus JIA juvenile idiopathic arthritis
HEV hepatitis E virus JVP jugular venous pulse
HFA hydrofluoro alkane
HFM hand, foot and mouth
HFV hepatitis F virus KA keratoacanthoma
HGV hepatitis G virus KFT kidney function test
HHC hereditary haemochromatosis kg kilogram
HIDA hydroxy iminodiacetic acid KOH potassium hydroxide
HIV human immunodeficiency virus KS Kaposi sarcoma
HLA-B27 human leucocyte antigen KUB-CT kidney ureter bladder scan
HMGCoA hydroxymethylglutaryl CoA
HNPCC hereditary non-polyposis colorectal cancer
HPV human papilloma virus LA local anaesthetic
LABA long-acting beta agonist N normal
LBBB left branch bundle block N saline normal saline
LBO large bowel obstruction NAAT nucleic acid amplification technology
LBP low back pain NAD no abnormality detected
LCR ligase chain reaction NCDs non-communicable diseases
LDH/LH lactic dehydrogenase NET norethisterone
LDL low-density lipoprotein NF neurofibromatosis
LFTs liver function tests NGU non-gonococcal urethritis
LH luteinising hormone NHL non-Hodgkin lymphoma
LHRH luteinising hormone releasing hormone NH&MRC National Health and Medical Research Council
LIF left iliac fossa NIDDM non-insulin dependent diabetes mellitus
LMN lower motor neurone NNT numbers needed to treat
LNG levonorgestrel nocte at night
LPC liquor picis carbonis NR normal range
LRTI lower respiratory tract infection NRT nicotine replacement therapy
LSD lysergic acid NSAIDs non-steroidal anti-inflammatory drugs
LSIL low-grade squamous intraepithelial lesion NSCLC non-small cell lung cancer
LSS lumbar spinal canal stenosis NSTEACS non-ST segment elevation acute coronary syndrome
LUQ left upper quadrant NSU non-specific urethritis
LUT lower urinary tract NTT nuchal translucency test
LUTS lower urinary tract symptoms NVDPA National Vascular Disease Prevention Alliance
LV left ventricular
LVH left ventricular hypertrophy
(o) taken orally
OA osteoarthritis
MAIS Mycobacterium avium intracellulare or M. sacrofulaceum Page xxvii OCP oral contraceptive pill
mane in morning OGTT oral glucose tolerance test
MAOI monoamine oxidase inhibitor OSA obstructive sleep apnoea
MAST medical anti-shock trousers OSD Osgood–Schlatter disorder
MB myocardial base OT occupational therapist
mcg micrograms (also µg) OTC over the counter
MCL medial collateral ligament
MCP metacarpal phalangeal
MCU microscopy and culture of urine PA posterior–anterior
MCV mean corpuscular volume PAD peripheral arterial disease
MDI metered dose inhaler PAN polyarteritis nodosa
MDMA methylenedioxymethamphetamine Pap Papanicolaou
MDR multi-drug resistant TB PBG porphobilinogen
MG myaesthenia gravis PBS Pharmaceutical Benefits Scheme
MHT menopause hormone therapy pc after meals
MI myocardial infarction PCA percutaneous continuous analgesia
MIC mitral incompetence PCB post coital bleeding
MID minor intervertebral derangement PCI percutaneous coronary intervention
MMSE mini mental state examination PCL posterior cruciate ligament
MND motor neurone disease PCOS polycystic ovarian syndrome
MRCP magnetic resonance cholangiopancreatography PCP pneumocystitis pneumonia
MRI magnetic resonance imaging PCR polymerase chain reaction
MRSA methicillin-resistant staphylococcus aureus PCV packed cell volume
MS multiple sclerosis PD Parkinson disease
MSM men who have sex with men PDA patent ductus arteriosus
MSST maternal serum screening test PDD pervasive development disorders
MSU midstream urine PEF peak expiratory flow
MTP metatarsophalangeal PEFR peak expiratory flow rate
MVA motor vehicle accident PET pre-eclamptic toxaemia
PET positron emission tomography
PFO patent foramen ovale
PFT pulmonary function test RSI repetition strain injury
PGL persistent generalised lymphadenopathy RSV respiratory syncytial virus
PH past history RT reverse transcriptase
PHR personal health record rtPA recombinant tissue plasminogen activator
PID pelvic inflammatory disease RUQ right upper quadrant
PIP proximal interphalangeal
PJP pneumocystis jirovecii pneumonia
PKU phenylketonuria s serum
PLISSIT permission: limited information: specific suggestion: intensive therapy SABA short-acting beta agonist
PLMs periodic limb movements SAH subarachnoid haemorrhage
PMDD premenstrual dysphoric disorder SARS severe acute respiratory distress syndrome
PMS premenstrual syndrome SBE subacute bacterial endocarditis
PMT premenstrual tension SBO small bowel obstruction
PaO2 partial pressure oxygen (arterial blood) SBP systolic blood pressure
POP plaster of Paris SC/SCI subcutaneous/subcutaneous injection
POP progestogen-only pill SCC squamous cell carcinoma
PPI proton-pump inhibitor SCFE slipped capital femoral epiphysis
PPROM preterm premature rupture of membranes SCG sodium cromoglycate
PR per rectum SCLC small cell lung cancer
prn as and when needed SERM selective estrogen receptor modulator
PRNG penicillin-resistant gonococci SIADH syndrome of secretion of inappropriate antidiuretic hormone
PROM premature rupture of membranes SIDS sudden infant death syndrome
PSA prostate specific antigen SIJ sacroiliac joint
PSGN post streptococcal glomerulonephritis SL sublingual
PSIS posterior superior iliac spine SLD specific learning disability
PSVT paroxysmal supraventricular tachycardia SLE systemic lupus erythematosus
PT prothrombin time SLR straight leg raising
PTC percutaneous transhepatic cholangiography SND sensorineural deafness
PTCA percutaneous transluminal coronary angioplasty SNHL sensorineural hearing loss
PTFL posterior talofibular ligament SNPs single nucleotide polymorphisms
PU peptic ulcer SNRI serotonin noradrenaline reuptake inhibitor
PUO pyrexia of undetermined origin SOB shortness of breath
PUVA psoralen + UVA SLS salt-losing state
pv per vagina sp species
PVC polyvinyl chloride SPA suprapubic aspirate of urine
PVD peripheral vascular disease SPECT single photon emission computerised tomography
SPF sun penetration factor
SR sustained release
qds, qid four times daily Page xviii SSRI selective serotonin reuptake inhibitor
SSS sick sinus syndrome
statim at once
RA rheumatoid arthritis STEMI ST segment elevation myocardial infarction
RACGP Royal Australian College of General Practitioners STI sexually transmitted infection
RAP recurrent abdominal pain STS sodium tetradecyl sulfate
RBBB right branch bundle block SUFE slipped upper femoral epiphysis
RBC red blood cell SVC superior vena cava
RCT randomised controlled trial SVT supraventricular tachycardia
RF rheumatic fever
Rh rhesus
RIB rest in bed T3 tri-iodothyronine Page xxix
RICE rest, ice, compression, elevation T4 thyroxine
RIF right iliac fossa
TA temporal arteritis
RPR rapid plasma reagin
TB tuberculosis
RR relative risk
TCA tricyclic antidepressant
RRR relative risk reduction
tds, tid three times daily
RSD reflex sympathetic dystrophy
TENS transcutaneous electrical nerve stimulation
TFTs thyroid function tests XL sex linked
TG triglyceride
TIA transient ischaemic attack
TIBC total iron binding capacity
TM tympanic membrane
TMJ temporomandibular joint
TNF tissue necrosis factor
TOE transoesophageal echocardiography
TOF tracheo-oesophageal fistula
TORCH toxoplasmosis, rubella, cytomegalovirus, herpes virus
TPHA Treponema pallidum haemaglutination test
TSE testicular self-examination
TSH thyroid-stimulating hormone
TT thrombin time
TUE therapeutic use exemption
TUIP transurethral incision of prostate
TURP transurethral resection of prostate
TV tidal volume

U units
UC ulcerative colitis
U&E urea and electrolytes
UGIB upper gastrointestinal bleeding
µg microgram
UMN upper motor neurone
URT upper respiratory tract
URTI upper respiratory tract infection
US ultrasound
UTI urinary tract infection
U ultraviolet

VAD voluntary assisted dying

VAS visual analogue scale
VBI vertebrobasilar insufficiency
VC vital capacity
VDRL Venereal Disease Reference Laboratory
VF ventricular fibrillation
VMA vanillylmandelic acid
VPG venous plasma glucose
VRE vancomycin-resistant enterococci
VSD ventricular septal defect
VT ventricular tachycardia
VUR vesicoureteric reflux
VVS vulvar vestibular syndrome
vWD von Willebrand disease

WBC white blood cells

WBR white → blue → red
WCC white cell count
WHO World Health Organization
WPW Wolff–Parkinson–White
Page 1

Part 1 The basis of general practice

Page 2

1 The nature, scope and content of

general practice

Medical practice is not knitting and weaving and the labour of the hands, but it must be inspired
with soul and be filled with understanding and equipped with the gift of keen observation; these
together with accurate scientific knowledge are the indispensable requisites for proficient
medical practice.

MOSES BEN MAIMON (1135–1204)

General practice is a traditional method of bringing primary health care to the community. It is a
medical discipline in its own right, linking the vast amount of accumulated medical knowledge
with the art of communication.

Definitions
General practice can be defined as that medical discipline which provides ‘community-based,
continuing, comprehensive, preventive primary care’, sometimes referred to as the CCCP model.
It is regarded as synonymous with primary care and family practice.

The Royal Australian College of General Practitioners (RACGP) uses the following definitions
of general practice and primary care:
General practice is that component of the health care system which provides initial, continuing, comprehensive
and coordinated medical care for all individuals, families and communities and which integrates current
biomedical, psychological and social understandings of health.

A general practitioner is a medical practitioner with recognised generalist training, experience and skills, who
provides and coordinates comprehensive medical care for individuals, families and communities.

General/family practice is the point of first contact for the majority of people seeking health care. In the
provision of primary care, much ill-defined illness is seen; the general/family practitioner often deals with
problem complexes rather than with established diseases.

The RACGP has defined five domains of general practice:

 communication skills and the doctor–patient relationship better than the caring family doctor taking full responsibility for the welfare of the patient and
intervening on his or her behalf? Specialists also need highly competent generalists to whom
applied professional knowledge and skills they can entrust ongoing care.

population health and the context of general practice

Unique features of general practice
professional and ethical role
Anderson, Bridges-Webb and Chancellor4 emphasise that ‘the unique and important work of the
organisational and legal dimensions general practitioner is to provide availability and continuity of care, competence in the realm of
Furthermore the RACGP has identified eight core characteristics of general practice: diagnosis, care of acute and chronic illness, prompt treatment of emergencies and a preventive
approach to health care’.
1. whole person care
The features that make general practice different from hospital- or specialist-based medical
2. person centredness practices include:

3. continuity of care first contact

4. comprehensiveness compassion

5. diagnostic and therapeutic skills diagnostic methodology

6. a command of complexity and uncertainty early diagnosis of life-threatening and serious disease

7. coordinated clinical teamwork continuity and availability of care

8. leadership, advocacy and equity personalised care

Additional functions of primary health care promoted by the American College of Family care of acute and chronic illness
Physicians (AAFP).1,2
domiciliary care
First contact care including the early diagnosis of acute disease
emergency care (prompt treatment at home or in the community)
Continuity of care for the individual patient, their family and his/her environment

Highly personalised care family care

Care of chronic disease palliative care (at home)
Gatekeeper care or co-ordinating role drawing on traditional major disciplines
preventive care
Community health awareness
scope for health promotion and patient education
General practice is fundamentally relational, based on the doctor having a deep understanding of
the whole person and the ability to manage complex conditions and circumstances. The general holistic approach to management
practitioner functions as a physician, counsellor, advocate and agent of change for individuals,
families and their communities.3 health care coordination

General practice is not the summation of specialties practised at a superficial level and we Page 3 The GP has to be prepared for any problem that comes in the door (see FIG. 1.1 ).
must avoid the temptation to become ‘specialoids’. In the current climate, where
medicine is often fragmented, there is a greater than ever need for the generalist. The patient
requires a trusted focal point in the often bewildering health service jungle. Who is to do this
 The disease-centred consultation is the traditional medical model based on the history,
examination and special investigations, with the emphasis on making a diagnosis and treating the
disease. The disease-centred diagnosis, which is typical of hospital-based medicine, is defined in
terms of pathology and does not focus significantly on the feelings or circumstances of the
person suffering from the disease.

Whole-person care—mind and body—is the hallmark of the good GP.

The patient-centred consultation not only takes into account the diagnosed disease and its
management but also adds another dimension—that of the psychosocial hallmarks of the patient,
including details about:

the patient as a person

emotional reactions to the illness

the family

the effect on relationships

work and leisure Page 4

lifestyle

the environment

FIGURE 1.1 Degrees of care of health Taylor and colleagues, in their patient-centred model of health care, emphasise six interactive
components of the patient-centred process:6
Apart from these processes the GP has to manage very common problems including a whole
variety of problems not normally taught in medical school or in postgraduate programs. Many of 1. exploring both the disease and the illness experience
these problems are unusual yet common and can be regarded as the ‘nitty gritty’ or ‘bread and
butter’ problems of primary health care. 2. understanding the whole person

In considering the level of care of symptoms, 25% of patients abandon self-care for a visit to the 3. finding common grounds regarding management
GP. Ninety per cent of these visits are managed entirely within primary care. Levels of care are
4. incorporating prevention and health promotion
represented in FIGURE 1.1 .5
5. enhancing the doctor–patient relationship
Holistic approach to management
6. being realistic regarding time and resources
The management of the whole person, or the holistic approach, is an important approach to
patient care in general practice. Whole-person diagnosis is based on two components: Contemporary general practice focuses on patient-centred medicine, which, in alliance with
evidence-based medicine, benefits both patient and doctor.
1. the disease-centred diagnosis

2. the patient-centred diagnosis

Continuing care
 Australian general practice
The essence of general practice is continuity of care. The doctor–patient relationship is unique in
general practice in the sense that it covers a span of time that is not restricted to a specific major
illness. The continuing relationship involving many separate episodes of illness provides an Per cent of problems
opportunity for the doctor to develop considerable knowledge and understanding of the patient, 1 Hypertension 5.7
the family and its stresses, and the patient’s work and recreational environment.
2 Immunisation 4.2
The epidemiological work of Barbara Starfield and others demonstrates that most of the 3 URTI 3.3
important population health outcomes are more associated with access to primary health care
4 Depression 2.9
than they are to specialist services. In other words, if a society (rich or poor) wishes to reduce the
number of heart attacks, cancer deaths or infant mortality, it is more effective to improve access 5 Diabetes 2.3
to GPs than it is to cardiologists, oncology centres or neonatal units. According to Starfield and 6 Lipid disorders 2.1
her colleagues, ‘The evidence also shows that primary care (in contrast to specialty care) is
associated with a more equitable distribution of health in populations.’7 7 General check-up 1.9
8 Osteoarthritis 1.7
In 2008 the World Health Organization (WHO) reaffirmed the global importance of primary
health care with its landmark report Primary Health Care: Now More Than Ever. WHO8 9 Back pain 1.7
highlighted the evidence that continuity of care through general practice contributed to the 10 Prescription 1.6
following better outcomes:
11 Oesophageal (inc. GORD) 1.6
lower all-cause morbidity 12 Female genital check-up 1.5

better access to care 13 Acute bronchitis/bronchiolitis 1.5

14 Asthma 1.3
fewer rehospitalisations
15 Anxiety 1.2
fewer consultations with specialists Cumulative top 15 34.6
less use of emergency services
Source: Cooke et al.9
better detection of adverse effects of medication interventions
To cover 75% of presenting problems, GPs must be able to diagnose and manage more than 100
Home visits different problems, and to cover 85% requires a good working knowledge of 167 problems.9 The
breadth of knowledge required to become a proficient GP is tremendous.
‘You don’t know your patient until you have seen them in their home.’ Home visits are a
goldmine of information about intrafamily dynamics. They should cement the doctor–patient The content of this book reflects what is fundamental to the nature and content of general
relationship if used appropriately. GPs are the only doctors who practise domiciliary care. practice—that which is common but is significant, relevant, preventable and treatable.

Common presenting problems Symptoms and conditions related to litigation

Medical defence organisations have highlighted the following areas as being those most Page 5
Common presenting symptoms in Australian general practices (BEACH study, 2013) are
vulnerable for management mishaps:
presented in TABLE 1.1 9 (note that the top 15 problems represent only one-third of all
encounters). acute abdominal pain

acute chest pain

Table 1.1 Most frequent presenting problems in breast lumps
Australian general practice
 children’s problems, especially the sick febrile child <2 years, groin pain and lumps epilepsy

dyspnoea ± cough (?heart failure, cancer, TB) hypothyroidism

headache chronic mental illness, especially depression

The most common reasons for claims against GPs are: medication monitoring

diagnostic error 38% arthritis

procedural complications 18%

The family
treatment issues 16%
Working with families is the basis of family practice, and families living in relative harmony
general duty of care 14% provide the basis for the good mental health of their members and also for social stability.
medication-related issues 9% Families take many shapes and forms, among them single-parent households, de facto
partnerships, three-generational households, same-sex couples and families formed by a
legal issues 2% partnership between two separated parents and their children. Psychosocial problems may occur
in almost any family arrangement and family doctors need to know how to address such
consent issues 1%
problems.
medicolegal reports 1%
Family therapy is ideally undertaken by GPs, who are in a unique position as providers of
anaesthesia 1% continuing care and family care. It is important for them to work together with families in the
counselling process and to avoid the common pitfalls of working in isolation and assuming
Source: S Bird, MDA National personal responsibility for changing the family. We should understand that definitions of family
vary greatly across cultures.
Chronic disease management Bader12 summarises working with families succinctly:

A study of international target conditions10,11 in chronic disease management has highlighted the From the perspective of family therapy, working with families means avoiding the trap of being too directive,
too responsible for the family’s welfare, with the result that the family becomes overly dependent on the general
importance of the following (as common themes): practitioner for its health and development. From the perspective of family education, working with families
means developing the skills of anticipating guidance, helping families to prepare, not only for the normal
ischaemic heart disease changes occurring as the family develops, but also for the impact of illness on the family system.

chronic heart failure

Families in crisis
cerebrovascular disease
Doctors are closely involved with families who experience unexpected crises, which include
hypertension illnesses, accidents, divorce, separation, unemployment, death of a family member and financial
disasters.
type 2 diabetes

chronic obstructive pulmonary disease The effect of illness

asthma Serious illness often precipitates crises in individual members of the family, crises that have not
previously surfaced in the apparently balanced family system. For example, bereavement over
obesity the unexpected loss of a child may lead to marital breakdown.
In the long term, other family members may be affected more than the patient. This may apply responsibility for identifying an underlying family-based problem.
particularly to children and manifest as school underachievement and behaviour disturbances.

During the crisis the obvious priority of the doctor is to the patient, but the less obvious needs of The patient and family dynamics
the family should not be ignored.
Family doctors see many people who present with physical symptoms that have primarily an
emotional or psychosocial basis with either little or no organic pathology. In order to understand
Guidelines for the doctor the clinical manifestations of the sick role of patients, family doctors should first understand the
Include the family as much as possible, starting early in the acute phase of the illness. This individual’s response to stress stimuli, which may come from external (family, work or sexual
may necessitate family conferences. behaviour) or internal (personality trait or psychosocial) sources (see FIG. 1.2 and
TABLE 1.2 ).
Include the family on a continuing basis, especially if a long-term illness is anticipated. Page 6
It is helpful to be alert for changes in attitudes, such as anger and resentment towards
the sick member.

Include the family in hospital discharge planning.

If a serious change in family dynamics is observed, the use of experts may be needed.

Offer a family conference at critical times.

Significant presentations of family dysfunction

The following presentations may be indicators that all is not well, and the doctor needs to ‘think
family’:

relationship or sexual difficulties

multiple presentations by multiple family members

abnormal behaviour in a child

the ‘difficult patient’

inappropriate behaviour in the antenatal and/or postpartum period

drug or alcohol abuse in a family member

evidence of physical or sexual abuse in one of the partners (male or female) or a child

psychiatric disorders, especially depression and psychosis

increased stress/anxiety
FIGURE 1.2 Family dynamics and psychosomatic illness iceberg
complaints of chronic fatigue or insomnia

It is important that the family doctor remains alert to the diversity of presentations and takes the
Table 1.2 Areas of possible biopsychosocial dysfunction
 Areas of possible biopsychosocial dysfunction

Table 1.3
Work Family Sex The family life cycle12
Type of work Present family (change of structure Sexual
Workload and function) dysfunction 1. Leaving Establishing personal independence. Beginning the
Work Extended family (parents and Disharmony home emotional separation from parent(s).
environment relatives) Deprivation 2. Getting Establishing an intimate relationship with
Goals Growing environment (family tree) Guilt married, spouse/partner. Developing further the emotional
Work entering de separation from parent(s).
satisfaction facto

3. Learning to Dividing the various relationship roles in an equitable

How to evaluate the family dynamics live way. Establishing a new, more independent
together relationship with family.
Carefully observe family members interacting. 4. Parenting Opening the family to include a new member. Dividing
the first the parenting roles.
Invite the whole family to a counselling session (if possible).
child
Visit the home: a visit on the way home from work may be very revealing. This will be 5. Living with Increasing the flexibility of the family boundaries to
appropriate in some but not all family practice settings. the allow the adolescent(s) to move in and out of the family
adolescent system.
Prepare a genogram (see FIG. 23.1 , CHAPTER 23 ): family dynamics and behaviour can be
understood by drawing a family map or genogram (a diagrammatic representation of family 6. Launching Accepting the multitude of exits from and entries into
structure and relationships).13,14 children: the family system. Adjusting to the ending of parenting
the empty- roles.
The genogram nest phase

The genogram is a very valuable pedigree chart that usually covers three generations of a Page 7 7. Retirement Adjusting to the ending of the wage-earning roles.
Developing new relationships with children,
family tree.13 Such a visual framework helps the general practice consultation as you can
grandchildren and each other.
continue to build on that basic framework. Copies can be given to patients and families to reflect
on at home and return to their GP for further insights.15 Genograms are a useful strategy for 8. Old age Dealing with lessening abilities and greater
involving family members who may have been reluctant to be involved in discussions on family dependence on others. Dealing with losses of friends,
matters.14 An example, including the use of symbols, is shown in FIGURE 23.1 (refer to family members and, eventually, each other.
CHAPTER 23 ).

The family life cycle

Helpful in understanding the dynamics of the family is the concept of the family life cycle,16
which identifies several clearly defined stages of development (see TABLE 1.3 ). Such an
understanding can help the doctor form appropriate hypotheses about the problems patients are
experiencing at a particular stage. Each stage brings its own tasks, happiness, crises and
difficulties. This cycle is also well represented in FIGURE 1.3 , which indicates the approximate
length of time on each of the stages.
 5 Fraser RC, ed. Clinical Method: A General Practice Approach (3rd edn). Oxford:
Butterworth-Heinemann, 1999.

6 Taylor RJ, McAvoy BR, O’Dowd T. General Practice Medicine. Edinburgh: Churchill
Livingstone, 2003: 6–7.

7 Starfield B, Shi L, Macinko J. Contribution of primary care to health systems and health.
Milbank Q, 2005; 83(3): 457–502. doi:10.1111/j.1468-0009.2005.00409.x

8 World Health Organization. The World Health Report 2008; Primary Health Care: Now
More Than Ever. Geneva: WHO, 2008.

9 Cooke, G et al. Common general practice presentations and publication frequency [online].
Aust Fam Physician, Jan/Feb 2013; 42(1/2): 65–68.

10 Piterman L. Chronic Disease Management OSP Report. Melbourne: Monash University,

2004.

11 Rakel RE, Rakel DP. Textbook of Family Medicine (9th edn). Philadelphia: Elsevier
FIGURE 1.3 The family life cycle (approximate time in each stage)17, 18 Saunders, 2016: 16.

12 Bader E. Working with families. Aust Fam Physician, 1990; 19: 522–8.
Resources
13 McGoldrick M, Gerson R. Genograms in Family Assessment. New York: WW Norton,
1985: chs 1–4.
The World Organization of National Colleges, Academies and Academic Associations of Page 8
General Practitioners/Family Physicians (WONCA). Available from: 14 Jackson L, Tisher M. Family therapy skills for general practitioners. Aust Fam Physician,
www.globalfamilydoctor.com, accessed February 2021. 1996; 25: 1265–9.
Australian Government, Institute of Family Studies. Family Matters No. 87, 2011. Think Family: 15 Larner G, Lajorie M. Family therapy in general practice: how to treat. Australian Doctor,
A new approach to Families at Risk. Available from: 2006; 10 December: 23–30.
https://aifs.gov.au/sites/default/files/fm87e.pdf, accessed February 2021.
16 Van Doorn H. Common Problems Checklist for General Practice. Melbourne: Royal
References Australian College of General Practitioners, 1989: 19.

17 McWhinney IR, Freeman T. A Textbook of Family Medicine (2nd edn). Oxford: Oxford
1 American Academy of Family Physicians. Official definition of Family Practice and University Press, 2009: 230–44.
Family Physician (AAFP Publication No. 303). Kansas City, Mo: AAFP, 1986.
18 Duvall EM. Family Development (5th edn). Philadelphia: Lippincott, 1977.
2 Rakel RE. Essentials of Family Practice. Philadelphia: WB Saunders Company, 1993: 2–
3.

3 RACGP. What is General Practice? Available from:

https://www.racgp.org.au/becomingagp/what-is-a-gp/what-is-general-practice/, accessed
February 2021.

4 Anderson NA, Bridges-Webb C, Chancellor AHB. General Practice in Australia. Sydney:

Sydney University Press, 1986: 3–4.
 Page 9 an understanding of the process of the consultation. Two classic models are those by Pendleton
and colleagues,1 and by Stott and Davis.2 Pendleton and colleagues, in their landmark book The
Consultation: An Approach to Learning and Teaching,1 defined seven key tasks to the
consultation, which serve as helpful guidelines:

2 Consulting skills 1. To define the reason for the patient’s attendance, including:

the nature and history of problems

their aetiology

the patient’s ideas, concerns and expectations

The essential unit of medical practice is the occasion when in the intimacy of the consulting
room the person who is ill or believes himself (or herself) to be ill, seeks the advice of a doctor the effect of the problems
whom he (she) trusts. This is the consultation and all else in the practice of medicine derives
from it. 2. To consider other issues:

SIR JAMES SPENCE 1960 continuing problems

The objectives of the consultation are to: risk factors

determine the exact reason for the presentation 3. To choose, with the patient, an appropriate action for each problem

achieve a good therapeutic outcome for the patient 4. To achieve a shared understanding of the problems with the patient

develop a strong doctor–patient relationship 5. To involve the patient in the management and encourage him or her to accept appropriate
responsibility

The skills of general practice 6. To use time and resources efficiently and appropriately:

A successful outcome to the medical consultation depends on a whole array of skills required by
the GP. Although interrelated, these skills, which can be collectively termed ‘consulting skills’,
include interviewing skills, clinical skills, diagnostic skills, management skills, communication
skills, educative skills, therapeutic skills, manual skills and counselling skills.
Communication skills, which are fundamental to consulting skills, are the key to the
effectiveness of the doctor as a professional, and expertise with these skills is fundamental to the
doctor–patient relationship. Communication skills are essential in obtaining a good history and
constitute one of the cornerstones of therapy (see CHAPTER 3 ).
in the consultation
in the long term
7. To establish or maintain a relationship with the patient that helps to achieve the other tasks
The exceptional potential in each primary care consultation described by Stott and Davis,2 which
is presented in TABLE 2.1 , also acts as an excellent aide-mémoire to achieve maximal benefit
from the consultation.

A skilled interviewer will succeed in transmitting his or her findings to the patient so that they Table 2.1 The potential in each primary care consultation
are clearly understood, are not unduly disturbing, and inspire trust and confidence in the
physician.
A B
Models of the consultation Management of presenting problems Modification of health-seeking behaviour
C D
Several models that formalise the general practice consultation can be very useful for developing
 Management of continuing problems Opportunistic health promotion

Source: Stott & Davis2

Phases of the consultation

The consultation can be considered in three phases, as follows: Page 10

1. Establishment of rapport (see FIG. 2.1 )

2. Diagnostic phase

the interview and history

the physical and mental examination

investigations

3. Management phase

explanation and education

FIGURE 2.1 The consultation: establishment of good rapport is the foundation
prescribing medication to successful consulting skills
procedural–therapeutic or extended diagnostic
Practice tip
referral

follow-up Remembering the patient’s preferred name and their basic past history creates
powerful rapport.

The history
The doctor has four basic tasks to perform during the history-taking phase of the consultation.
These are to determine:

1. the patient’s stated reason for attending

2. why the patient is attending today, or at this particular time in the course of this illness

3. a list of problems or supplementary symptoms

4. any other initially unspoken or hidden reason for attending (e.g. the fear of cancer)

The old medical cliché that ‘a good history is the basis of the clinical examination’ is as relevant
as always. The art of history taking, which is based on good communication, is the most In order to determine any underlying agenda or significant psychosocial problems, it is very
fundamental skill in general practice and requires a disciplined approach. helpful to use analytical questions. Such opening questions and inviting statements could
include:
An interesting approach is that used by Professor Rita Charon of Columbia University: ‘I will be
your doctor, and so I need to know a great deal about your body, health and your life. Please tell Why have you come to see me today?
me what you think I should know about your situation.’3
Do you have any particular concern about your health?
Guidelines include:4
That really interests me—tell me more—it seems important. Page 11
Commence by eliciting the presenting complaint.
What were you hoping I could do for you today?
Permit an uninterrupted history.
Where would you put your real feelings between 0 and 100%?
Use appropriate language—keep the questions simple.
What is it that’s really upsetting or bothering you?
Use specific questions to clarify the presenting complaint.
What do you really think deep down is the cause of your problem?
Write notes or use the keyboard to record information but maintain as much eye contact as
possible. Are you basically satisfied with your life?

Enquire about general symptoms, such as fatigue, weight changes, fever, headache, sleep and Is there anything that I haven’t asked you and that you should tell me about?
coping ability (see TABLE 2.2 ). These are important since they uncover ‘red flags’ for
serious, life-threatening disorders. Tell me about things at home.

Tell me about things at work.

Undertake a relevant systems review.

A historical checklist includes past medical history, complete medication history, drug habits
and sensitivities, family history, psychosocial history and preventive care history.
Give feedback to the patient about your understanding of the problems and agenda, and
correct any misconceptions.
Do you experience any bullying?
Are you afraid that something bad is going to happen to you?
Is your relationship with any particular loved one/person causing you stress? (This may lead to
information about sensitive issues such as domestic violence or sexual problems.)

Is there anything in your life that you would like to change?

Table 2.2 Important general questions
I’m concerned about what you are not telling me.
Fatigue, tiredness or malaise
Fever, sweating, shakes Basic interviewing techniques
Weight change, especially loss
A number of basic interviewing techniques5 encourage communication. It is important to use the
Pain or discomfort anywhere least controlling interview techniques before embarking on direct questioning.
Any unusual lumps or bumps
Any unusual bleeding Questions
Skin problems—rash or itching
When the patient is asked a question, the doctor tends to take control of the interview, and so
directs it along the lines of his or her own thinking or hypothesis generation. The problem is that
if questions are used too early in the interview, the amount of desirable information is restricted
Good questions and may disrupt the true priorities of the patient’s concerns.
Open-ended questions and direct questions are very useful at appropriate times, while other
questions are very restrictive. Examples, using pain as the ‘problem’, are:
Open-ended question: ‘Tell me about the pain.’
Direct question: ‘Where is the pain?’
Closed question: ‘Is the pain severe?’
Leading question: ‘The pain is severe?’
Reflective question: ‘You want to know the cause of the pain?’
The open-ended question
The open-ended question is essential in initiating the interview. A question such as ‘What kind of
troubles have you been having?’ says to the patient ‘I’m interested in anything you may feel is
important enough for you to tell me’.
The open-ended question gives the patient an opportunity to take temporary control of the
consultation and to outline problems and concerns.
Ongoing interview strategies of listening and silence, facilitation and summarisation are outlined
in CHAPTER 3 (section on Communication in the consultation).
Information from other sources
Sometimes it is important to obtain information from other sources, especially friends or
relatives. Off-hand comments from others may be loaded with ‘cues’ and one should be listening
intently.
Problem definition
Part of the diagnostic process is defining the patient’s problem or problems. The more complex
the presentation, the more necessary it is to have an orderly approach. It is clearly important to
list the problems in a priority order. These problems may have been ‘offered’ by the patient,
‘observed’ by the doctor, ‘derived’ during the interview or ‘known’ from the past history.
Problems can be conveniently considered as organic or physiological, and intrapersonal or
social.6
Touching the patient
Sometimes a natural response is to touch the distressed patient as a reassuring gesture. It is best
to adopt a caring-and-support gesture, such as offering tissues to the weeping patient, but it may
be quite acceptable for most patients to give a reassuring, momentary touch somewhere between
the shoulder and wrist on the arm nearest to you. Touching should be a natural gesture that is
comfortable for both the doctor and patient. Touch elsewhere should generally be avoided.
The physical and mental examination
If a diagnostic hypothesis based on the history is being tested, the examination may be confined
to one system or to one anatomical region. However, other regions, systems or a general
examination may be undertaken for medicolegal or preventive reasons. Patients tend to feel
vulnerable during the physical examination, so their sensitivity and modesty have to be
respected. Generally, the examination is conducted in relative silence, with the doctor instructing
the patient what to do.
Patients need to be warned of possible discomfort or pain that may accompany certain Page 12
examinations, of the reason for the examination and of its immediate results, particularly
if normal. Continued silence on the doctor’s part is often interpreted by patients as being
indicative of something serious or unusual being found. For the same reason, the doctor’s non-
verbal behaviour is important.
Medicolegal guidelines for examinations7,8
The following guidelines have been recommended by the NSW Medical Board for consultations
and physical examinations:
Carefully explain the nature and purpose of the physical examination before you start. Take
particular care with explanations before rectal, vaginal, breast and genital examination.
Indicate when an examination may be uncomfortable and ask the patient to advise if you are
causing pain.
If a patient is required to disrobe, explain to what extent undressing is required and why.
A patient’s modesty should be preserved when undressing and dressing before and after a
physical examination. Privacy screens, sheets and gowns should be provided as a matter of
course. Clinic staff should not interrupt physical examinations.
If the patient requests the presence of a chaperone or a friend, this should be respected.
Do not lock the door of the consultation room. The setting should allow the patient confidence
to terminate the consultation at any time if he or she is uncomfortable.
Ask yourself, ‘Is what I am doing part of accepted medical practice?’.9
Investigations
It is often necessary to arrange for special tests to assist in the diagnostic process or to monitor
the progress of certain illnesses or response to treatment. The informed consent of patients must
be obtained. A collaborative decision for or against certain tests may be negotiated.
GPs have a responsibility (clinical and economic) to be very discerning and selective in the
investigations that they choose. The questions that should be asked in decision making include:
Is this investigation necessary?
Will it change my management?
Richard Asher (1954) listed the questions a clinician should ask before requesting an
investigation:10
Why am I ordering this test?
What am I going to look for in the result?
If I find it, will it affect my diagnosis?
How will this affect my management of the case?
Will this ultimately benefit the patient?
In general, investigations should be performed only when the following criteria are satisfied:10
The consequence of the result of the investigation could not be obtained by a cheaper, less
intrusive method (e.g. taking a better history or using time).
The risks of the investigation should relate to the value of the information likely to be gained.
The result will directly assist in the diagnosis or have an effect on subsequent management.
The three strikes and you’re out rule
A very useful rule is to bail out of the diagnosis and refer to a colleague if you have
failed to make a diagnosis after three consultations.
Management phase of the consultation
The management phase of the consultation may immediately follow the information-gathering
interview, or it may take place on review, after diagnostic tests or referral. It should be
remembered that there are at least two people concerned in management: the doctor and the
patient. Poor patient compliance with any proposed therapy can be a result of a poorly conducted
management phase. It is necessary not only for the doctor to make statements concerning therapy
and the reasons for the chosen therapy, but also for the information to be conveyed in a language
appropriate to each patient’s understanding. Negotiate a management plan.
Management includes immediate care, prevention and long-term care. Doctors generally tend to
be authoritarian in their management proposals. Whole-person management, however, implies
that the patient’s views are listened to, explanations are offered where necessary by the doctor
and an educative approach is adopted to encourage the patient to actively participate in
management and preventive behaviour, where possible.
The objectives of the management phase of the consultation are summarised in TABLE 2.3 .
Table 2.3 Objectives of the management phase of the consultation5
To make use of the doctor–patient relationship in therapy
To involve the patient as far as possible in the management of his or her own
problem
To educate the patient about the illness
To promote rational prescribing
To achieve compliance in therapy
To emphasise preventive opportunities
To provide appropriate reassurance
To encourage continuity of ongoing care
The sequence of the management interview5
The following, which represents an excellent teaching strategy, is a suggested 10-point Page 13
plan or sequence for conducting a management interview. These guidelines will not always need
to be applied in their entirety, and may need to be staged over a number of consultations. The use
of this sequence should ensure identification of all the patient’s problems by the doctor
(including fears, feelings and expectations), adequate patient understanding of his or her
problems, an acceptable and appropriate treatment plan being defined for each problem,
preventive opportunities being addressed, and the patient being satisfied with the consultation
and being clear about follow-up arrangements.
The sequence is as follows.
1 Tell the patient the diagnosis
2 Establish the patient’s knowledge of the diagnosis
3 Establish the patient’s attitude to the diagnosis and management
4 Educate the patient about diagnosis
 Correct any incorrect health beliefs recognised in point 2. 2. advice

Supplement the patient’s existing knowledge to a level appropriate to the needs of the patient 3. prescription
and the doctor.
4. referral
5 Develop a management plan for the presenting problem
5. investigation
Develop precise instructions using three headings:
6. observation (follow-up)
Immediate: always included, even if no action is proposed
7. prevention
Long term: for chronic, long-term or recurrent illnesses
Prescriptions
Preventive: sometimes specific measures apply—often patient education is the method
required It is worth emphasising that prescribing medicine is a relatively complex skill that requires
considerable knowledge of the disease, patient’s expectations, the drugs prescribed, their
The patient should be encouraged at this stage to participate in decision making regarding interactions and their adverse reactions. Part of this skill is making a decision not to prescribe
management and to make a commitment to the plans. medication when it is not absolutely necessary and then explaining the reasons and including
non-pharmacological measures. This decision may be made in the context of a patient expecting
6 Explore other preventive opportunities
a biochemical solution for his or her problem. As McAvoy points out, ‘If in doubt whether or not
7 Reinforce the information to give a drug—don’t’.10

Use the patient’s own results (e.g. X-rays and ECGs). Rational prescribing applies particularly to opioids, antibiotics and tranquillisers.

Encourage the patient to participate in the decision making and in accepting some degree of Antimicrobial stewardship
responsibility for his or her own management.
This positive strategy describes a systematic approach to optimising the use of antimicrobials,
8 Provide take-away information with a view to improve outcomes and reduce adverse consequences, especially the development
of resistant strains.
Examples of this important strategy include patient instruction leaflets and resource contacts.
General guidelines for antibiotic prescribing
9 Evaluate the consultation
Choose the agent with the:
10 Arrange follow-up
narrowest spectrum that will cover the likely pathogens (based on culture/sensitivity)
Closing the session
lowest cost if efficacy and safety are otherwise equal Page 14
Good closure is an important strategy; ask ‘Has this visit helped you and your problems—is
there anything more I can do?’ indications should be evidence based

ensure oral therapy is used where clinically appropriate

A patient management strategy
dosage individualised to the patient
Brian McAvoy, writing in Fraser’s excellent book Clinical Method: A General Practice
Approach, presents a helpful aide-mémoire in the approach to patient management:10 fewest serious side effects

1. reassurance and/or explanation duration as short as possible

 proven microbiological guidelines to guide therapy
Avoid wherever possible:
prescribing antibacterial antibiotics for viral respiratory infections
combinations if a single drug is likely to be effective
topical antibiotics, as resistance is much more likely to develop (exceptions include eye
infections and vaginitis)
antibiotic combinations, except in proven clinical circumstances or when coverage is difficult
with a single drug
prophylactic antibiotics, unless they are of proven benefit (in general only in some elective
surgery or dental procedures)
The common respiratory infections such as acute otitis media, pharyngitis, tonsillitis, acute
bronchitis, bronchiolitis and influenza have commonly a viral cause and it is appropriate to treat
symptomatically with a ‘wait and see’ surveillance.11
Referral
The decision to refer a patient is also another important skill. It is often difficult to find the right
balance. Some practitioners refer excessively—others cling to their patients inappropriately. It is
a mistake not to refer a patient with a serious chronic or life-threatening disease. Apart from
consultants and hospitals, referral should be considered to GP colleagues or partners with special
interests or expertise, support groups and other members of the primary health care team, such as
physiotherapists, dietitians, chiropodists and social workers. At all times the GP should act as the
focal reference point and maintain control of patient management.
The ‘gatekeeper’ role of the GP
A patient’s GP is the obvious and ideal linchpin in the health care system to take responsibility
for the patient’s health concerns and management. The patient may become confused with the
system, especially if his or her problems are many and complex. The patient’s GP has a vital role
in acting as a ‘gatekeeper’ between primary and secondary care, and between paramedical
services. The GP should always act in the patient’s best interests and intervene, if necessary, to
ensure that the patient is getting the best possible care.
The healing art of the doctor
The counselling process in general practice is based on the therapeutic effect of the doctor. This
well-recorded feature is reinforced if the doctor has a certain professional charisma, and is caring
and competent. We cannot underestimate the dependency of our patients on this healing factor,
especially where significant psychic factors are involved.
Key points on patient management12
The diagnostic process begins at the door of the waiting room when you invite the
patient in.
It is difficult, perhaps impossible, to reassure patients in the absence of an
appropriate physical examination and certain investigations.
Reassurance must always be appropriate and therefore based on a substantial
foundation: inappropriate reassurance damages the credibility of both the doctor
and his or her profession.
The two key characteristics of the doctor in establishing the basis of a successful
outcome for the doctor–patient relationship are caring and responsibility.
Vital factors included in this relationship are good communication, genuine interest
and trust.
Listen to what the patient is saying and not saying.
References
1 Pendleton D et al. The Consultation: An Approach to Learning and Teaching. Oxford:
Oxford University Press, 1984.
2 Stott N, Davis R. The exceptional potential in each primary care consultation. J R Coll
Gen Pract, 1979; 29: 201–5.
3 Charon R. The self-telling body. Narrative Inquiry, 2006; 16:191–200.
4 Nyman KC. Successful Consulting. Melbourne: Royal Australian College of General
Practitioners, 1996: 11–32.
5 Rose AT. Basic interview techniques. In: Kidd M, Rose A. An Introduction to Consulting
Skills. Community Medicine Student Handbook. Melbourne: Monash University, 1991:
32–40.
6 Gask L, Usherwood T. The consultation. BMJ, 2002; 324: 567.
7 Johnson P. Bedside manners: advice for doctors in training. UMP Journal, 1998; 2: 2.
8 Guidelines for Medico-Legal Consultation and Examinations. Sydney: NSW Medical
Board, 1997.
9 Bird S. Managing professional boundaries. Aust Fam Physician, 2013; 42(9): 666–8.
10 Fraser RC. Clinical Method: A General Practice Approach (3rd edn). Oxford: Page 15
Butterworth-Heinemann, 1999: 6–72.

11 Scott AM, Del Mar C. Controlling antibiotic prescribing for lower respiratory tract
infections. BMJ, 2017; 357: j2398.

12 Tam M. Hints and tips in the medical consultation: The Medicine Box: Advice March 3 Communication skills
2007: 1–3.

Most people have a furious itch to talk about themselves and are restrained only by the
disinclination of others to listen. Reserve is an artificial quality that is developed in most of us as
a result of innumerable rebuffs. The doctor is discreet. It is his business to listen and no details
are too intimate for his ears.

W SOMERSET MAUGHAM (1874–1965), THE SUMMING UP

Hippocrates wrote:
In the art of medicine there are three factors—the disease, the patient and the doctor . . . It is not easy for the
ordinary people to understand why they are ill or why they get better or worse, but if it is explained by someone
else, it can seem quite a simple matter—if the doctor fails to make himself understood he may miss the truth of
the illness.1

Francis Macnab, Doctor of Divinity and patient, wrote: ‘The style of the doctor, the
communication of the doctor and the person of the doctor at the level of primary contact and
primary care can be crucial in a person’s life.’2

Much of the art of general practice lies in the ability to communicate. Listening is generally
regarded as the most important skill.

Research continues to focus the ‘blame’ for communication breakdown on the doctor, ignoring
the role of the patient.3

Communication
Communication can be defined as ‘the successful passing of a message from one person to
another’.

There are five basic elements in the communication process:

the communicator

the message

the method of communicating

 the recipient Communication in the consultation can be considered in the following sequence:

the response The doctor requires appropriate communication skills for complete diagnosis (physical,
emotional and social) and competent management. It is important to be aware of the patient’s
Important principles facilitating the communication process are: cultural background and educational level, and allow for these factors. The majority of
interaction between doctor and patient occurs in the traditional consultation. This involves both
the rapport between the people involved verbal and non-verbal communication.
the time factor, facilitated by devoting more time
Prepare
the message, which needs to be clear, correct, concise, unambiguous and in context
The ‘prepare’ phase includes preparation done both well before the consultation and Page 16
the attitudes of both the communicator and the recipient then just prior to the consultation. Well before consulting, the doctor should think about and
prepare the physical environment. Comfort and privacy should be maximised, and distractions
These elements and principles can be seen emerging in various phases through the consultation, and interruptions minimised. The patient should be physically positioned to feel empowered (e.g.
as illustrated in FIGURE 3.1 . avoid talking across a desk or talking down to a patient on a bed).

As well as reviewing the environment, doctors should review themselves. They should do some
self-reflection to consider what personal qualities, assumptions and values they have that may
influence a consultation.

Just prior to the consultation, a review of the patient’s health record will improve the doctor’s
awareness of important facts about the patient. Opening the file is actually when the consultation
starts. Here, crucial clues can be found, such as:

what happened at the last consultation

the important medical issues for this patient

any recent test results or correspondence that have arrived

the names of partners, parents or children who may come into the room with the patient

brief notes on personal characteristics, likes/dislikes (e.g. has needle phobia)

When a record is examined well, the reasons for the consultation can often be anticipated prior to
the formal start of the consultation, giving the doctor a wonderful opportunity to improve
communication.

Increasingly in general practice we see patients as part of a team. The patient may previously
have been seen by a practice nurse or a more junior doctor or medical student. This ‘teamlet
model of primary care’5,6 has been shown to help elucidate patients’ concerns, as have ‘patient
agenda forms’, which patients fill out prior to the consultation, prompting them to list what is on
FIGURE 3.1 The sequence of communication in the consultation their agenda for the consultation.6,7

Source: Reproduced with permission from Macy Initiative on Health Communication, New York University School of Medicine.
At first contact, we usually call a patient from the waiting room into the consulting room. Having
your eyes and ears ready and focused here can give you invaluable information. What is the
person wearing? What is the significance of any badges, necklaces, rings or tattoos? What does
Communication in the consultation3,4
his or her body language suggest? Who is accompanying the patient and how are they interacting Listen with understanding, in a relaxed, attentive silence. Use reflective questions, such as:
with each other? Clues about their interests (e.g. a child’s T-shirt reflecting a favourite TV
character), their cultural and social backgrounds (e.g. dress and appearance) and even their ‘You se‘em very sad today.’
medical issues at hand (e.g. a limp, a bandage or carrying an X-ray folder or hospital letter) ‘You seem upset about your husband.’
abound in this ‘pre-opener space’. Picking up on these clues early helps the doctor anticipate and ‘It seems you’re having trouble coping.’
reflect on issues before they emerge in the consultation, avoids communication breakdown, ‘You seem to be telling me that ...’
makes the patient feel that the doctor is interested in him or her and can make the doctor appear ‘Your main concern seems to me to ...’
switched on and observant.
Three techniques that have been demonstrated8,11 to improve how we elicit patient Page 17
concerns are:
Open
facilitation
When we get to the ‘opener’ (e.g. ‘What can I do for you today?’ or ‘Why have you come to see
me today?’) and beyond, we should:8 the open-to-closed cone

greet and address the patient by his or her preferred name (and anyone else entering the room)
try to make the patient feel comfortable
try to appear ‘unhurried’ and relaxed
focus firmly on the patient
use open-ended questions where possible
make appropriate reassuring gestures
Listen and gather
It is in the early stages of the consultation that silence (on the doctor’s part) can be golden. In
what is termed active listening, described by Egan9 as follows:
One does not listen with just his ears: he listens with his eyes and with his sense of touch. He listens by
becoming aware of the feelings and emotions that arise within himself because of his contact with others (that is,
his own emotional resonance is another ‘ear’), he listens with his mind, his heart, and his imagination. He listens
to the words of others, but he also listens to the messages that are buried in the words or encoded in all the cues
that surround the words. He listens to the voice, the demeanour, the vocabulary, and the gestures of the other. He
listens to the context, verbal messages and linguistic pattern, and the bodily movements of others. He listens to
the sounds, and to the silences.
Allowing the patient to talk (without interruption), and even leaving a slightly prolonged pause,
often provides enough space for the patient’s concerns to emerge. This is especially the case with
psychosocial issues.10
Listening includes four essential elements:
summarisation
Facilitation refers to comments or behaviours by the doctor that encourage the patient to keep
talking. This could include a head-nod, a ‘hmm’ at the right time, or ‘Tell me more about that’.
The open-to-closed cone is a gradual narrowing of focus from an indirect non-directive
exploration to a more direct exploration. It is often difficult to resist the urge to ‘dive in’ and
explore the initial concern raised and narrow the cone too quickly.6,12
After each problem or concern is elicited, the doctor should continue to explore to ensure there
are not any more. Using a patient-centred approach leads to improved patient trust and
satisfaction, more appropriate prescribing and more efficient practice.6
Summarisation is when the doctor provides the patient with an explicit verbal summary of the
information gathered thus far in the consultation.11 This helps to orientate the patient,
acknowledging to him or her that the doctor has taken on board what they have said, and
reflecting back to the patient the doctor’s understanding of it.
Non-verbal communication
Non-verbal communication or body language is a vital feature of the communication process.
Human communication takes place through the use of gestures, postures, position and distances
(non-verbal communication or body language) more than by any other method. Non-verbal cues
comprise the majority of the impact of any communicated message (see TABLE 3.1 ).13
Table 3.1 Impact of the message

checking facts Cue %

checking feelings
Words alone 7
encouragement
reflection Tone of voice 38
 Non-verbal communication 55

Recognition of non-verbal cues in our communication is important, especially in a doctor–patient

relationship. Charles Darwin in his Expression of the Emotions in Man and Animals (1872)
concluded that there is a unique pattern of non-verbal actions for each emotion, such as snarling
as a sign of aggression. The ability to identify non-verbal cues improves communication, rapport
and understanding of the patient’s fears and concerns. Recognising body language can allow
doctors to modify their behaviour, thus promoting optimum communication.

Interpreting body language

The interpretation of body language, which differs between cultures, is a special study in its own
right, but there are certain cues and gestures that can be readily understood. Examples illustrated FIGURE 3.3 Body language barrier signals: (a) arms folded, (b) legs crossed,
include: the depressed patient (see FIG. 3.2 ); barrier-type signals, often used as a defensive
(c) ‘ankle lock’ pose
mechanism to provide comfort or indicate a negative attitude (see FIG. 3.3 ); and a readiness
gesture, indicating a desire to terminate the communication (see FIG. 3.4 ).

FIGURE 3.2 Posture of a depressed person: head down, slumped, inanimate;

position of desk and people correct FIGURE 3.4 Body language: ‘readiness to go’ gestures

Having noted the non-verbal communication, the doctor must then deal with it. This Page 18
may require confrontation—that is, diplomatically bringing these cues to the patient’s
attention and exploring the associated feeling further.

The patient’s perspective

To be truly patient-centred, it is not enough merely to find out the patient’s concerns and needs
—we also need to explore his or her ideas, beliefs and expectations.8 What is the patient’s
perspective on his or her concerns and needs? What does the patient expect of you and from the
consultation? What are the priorities?
To best meet this challenge, doctors should be vigilant for verbal and non-verbal cues that
suggest frustrations, fears and anxieties.3 A shuffle in a chair or a stiffening in posture may give
a clue as to the emotional context a patient places on a particular issue. The issue is therefore not
only whether we have listened, but whether we have understood.10
Discovering the patient’s beliefs about illness will allow us to make statements to them that are
congruent with those beliefs. This is especially important in mental health, where illness beliefs
are often emotionally laden and unpredictable.
Understanding the patient’s perspective also needs to be considered in a cultural context. Culture
can have many dimensions, including ethnicity, age, gender, sexuality, community and religious
beliefs. Being culturally competent by showing an interest in, respect for and sensitivity to that
culture will help us achieve a shared understanding of where the patient is coming from and how
he or she is seeing things.8
Communicating during the physical examination or
procedure
In the same way that we obtain consent for surgical procedures, we should also fully inform the
patient of what we plan to do and obtain consent in any physical interaction with the patient.
Physical examination can be very confrontational for some patients and this can be
underestimated by the doctor. There may be factors of which the doctor is unaware that may
make examination particularly difficult for the patient, such as unpleasant previous experiences,
cultural, gender or sexual issues surrounding touch, or phobias about medical procedures or
needles.
As well as preparing the patient, explaining during the examination or procedure what is
happening and what we are observing and finding will help the patient feel valued and respected.
We should also continue to keep an ear out for any further patient concerns being raised.3
If we are fully eliciting the patient’s concerns and needs and are consulting using a patient-
centred approach, a point is reached in the consultation where the information flow will need to
go in the opposite direction—from doctor back to patient (in fact, in most consultations this flow
often moves repeatedly back and forth). How we deliver this information is critical to patient
communication.
Four techniques that will help maximise patient understanding are:
signposting
‘chunk and check’
avoiding jargon
using visual and physical techniques to communicate8
Signposting is a technique whereby the doctor explicitly states what he or she has done and/or is
about to do (e.g. ‘Andrew, I have finished examining you, now I would like to explain what I
think the issues are’ or ‘Mrs Jones, I have two matters I would like to discuss: first ...’).
Signposting helps orientate the patient, which further helps him or her to relax and focus better
on what you are saying.
Chunk and check is where the doctor provides a chunk of information to the patient and then
immediately checks the patient’s understanding of what has been said. Chunk and check works
best when the chunks are small, as this information is often new to the patient and best digested
in small grabs.
Jargon is a barrier to communication in many professions (think accountants or IT technicians)
and medicine is rife with jargon.
When dealing with patients, using jargon not only impairs the patient’s understanding, but can
also be alienating and intimidating. The patient needs to have the cognitive and communicative
capacity to understand the message.14
Visual and physical methods of conveying information given (or plans made) can Page 19
8
include diagrams, models, patient hand-outs or information sheets. Having ready access
to electronic visual materials or websites on a desktop computer can also help. Videos on
websites such as YouTube can be used to illustrate how the body functions, how a disease
manifests or a particular medical procedure, and directing patients to reputable and reliable
information sources on the internet or elsewhere (before they find unreliable information
themselves) will help avoid misinformation and extend the communication beyond the
consultation.
Negotiate and agree on a plan
Looking beyond patient-centred communication, we can then think about planning: what do we
intend to do, how we are going to decide this, who is going to do it? The preferred technique for
this is shared or collaborative decision making.14,15 The aim should be to have such
collaboration at all stages of the consultation. But because patients can often feel intimidated, it
is a challenge for the doctor to make the patient feel comfortable enough to do so.16
To enable this collaboration, the doctor and patient should treat each other’s concerns with
respect; this will lead to a shared responsibility for agenda setting.10 Such collaboration, when
done well, can lead to a coming-together of thinking that has been called a shared mind.14 ‘This
is what I would suggest, what do you think?’ As a way of thinking, a shared mind involves a
doctor being mindful of the patient’s values, thoughts and feelings (as well as those of his or her
own), and seeing where the two connect.17
This mindfulness of each other’s position can help the negotiation of what happens in the
consultation and also avoid communication breakdowns. For instance, what shall we deal with
today, and what should be delayed or rolled over to another consultation?10 It can also help
repair a communication breakdown.
One technique that uses this principle is called an empathic bridge.10 This is where we anchor
the conversation in the patient’s experience by reflecting or paraphrasing. From this anchor, we
then manoeuvre the conversation back to where it needs to be.
Another aspect of the doctor–patient relationship that enhances collaborative decision making,
particularly in general practice, is shared experiences.18 GP–patient relationships evolve over
time, and a shared experience such as helping a patient through a difficult pregnancy, a major
illness or even doing a home visit can enrich the relationship, deepen the connection and trust
between doctor and patient, and lead to greater collaborative decision making.
Close
How should we close a consultation? If we follow the principles of patient-centred
communication and remember that we should keep our focus on the patient’s concerns and
needs, it soon becomes apparent.
First, is the patient aware of the imminent closure? Anxious and distressed patients may have no
idea how long they have been ruminating about their concerns through the consultation, and
letting them know in advance that closure is being planned (and why) will allow them to not feel
pushed out of the room.
Secondly, making sure that there are no further disclosures of concerns or needs to come (yet
again) will reduce the risk of what has been termed the ‘doorknob presentation’—the raising of a
patient concern that happens as the doctor puts his or her hand on the doorknob to leave the room
(this has also been called the ‘Oh, by the way doctor’ syndrome in the USA, the ‘à propos,
docteur’ in France and ‘tussen haakjes’ in Denmark, which translates to ‘between two brackets’
or, as we may say, ‘parenthetically’).10
Thirdly, summarising the critical points of the consultation and planned actions and expectations
will provide a final opportunity to identify gaps between what the doctor and patient are
respectively thinking. We should also prepare a safety net by considering any possible
unexpected outcomes to what is being planned (e.g. what a parent should watch out for and what
to do if things worsen with the febrile infant patient).
Finally, we should thank and say farewell to the patient with an appropriate parting statement.
Does this include a handshake? This may be determined by your style, the patient’s style and
cultural issues.
Use of relationship-building skills
During the consultation and throughout a doctor–patient relationship over many consultations
(and potentially, in general practice, over decades), effective communication is underpinned by
using skills that develop the interpersonal relationship between doctor and patient.3,8
These skills include the doctor paying attention to non-verbal behaviour on display, as mentioned
above, such as appropriate eye contact, posture, position and movement. Verbal cues such as the
speed of speech, volume and tone can also be used. If using a computer or taking written notes,
the doctor should do so in a fashion that does not interfere with dialogue or rapport. Also, given
that patients are often highly emotionally invested in what we say, consulting in a manner that
reflects confidence (without stepping over into arrogance) will help build trust.
Rapport, which originates from an old French word that literally means ‘to carry back’, Page 20
can be engendered by fostering connections back and forth with the patient. Displaying
empathy for the patient’s situation or feelings, acknowledging his or her view or efforts, and
dealing sensitively with embarrassing or disturbing topics such as pain or grief will engender
rapport. We can show we are willing to provide emotional support by overtly expressing our
concern or understanding, or a willingness to help or offer partnership.8,16 An offer such as ‘I am
really keen to help you with this situation’ can go a long way.
Connections that build rapport can also happen away from medical issues, and are often more
powerful. This is where the ‘clues’ that we were looking for at the beginning of the consultation
can come into play. If a short interplay can happen between doctor and patient about something
the patient is passionate about or interested in, which has nothing to do with the medical issues at
hand, the patient will feel that he or she is respected as a person, not just as a medical
presentation to be solved. Examples of such clues that could be picked up and explored by the
doctor could be a favourite toy being held by a child, a book that a patient carries into the room
or the doctor noticing that the occupation of the patient is something he or she is interested in
asking about. It comes down to patients feeling that the doctor is actually interested in them.
When such connections are made, any tension in the consultation room can be seen to evaporate.
Other rapport-building techniques
A person can develop a rapport with another by mimicking his or her body language, speech,
posture, pace and other characteristics. Such techniques can be used to help the doctor
communicate better with a patient and also to improve the patient’s attitude by changing the
patient’s body language position.
Mirroring
Mirroring is a useful technique whereby the limb positions and body angles of the person you are
talking to can be copied. A mirror image is formed of their position so that when they look at you
they see themselves as in a mirror. It is not necessary to copy uncomfortable gestures or unusual
limb positions, such as hands behind the head. A partial mirror is often sufficient.
Pacing
People exhibit a certain rhythm or pace that can be revealed through their breathing, talking and
movements of the head, hands or feet. If you can copy the pace of another person, it will
establish a sense of oneness or rapport with them. Once this pace is established, you can change
their pace by changing yours. This is called leading.
Vocal copying
Vocal copying is another way to develop rapport with people. It involves copying intonation,
pitch, volume, pace, rhythm, breathing and length of the sentence before pausing.
Manage flow
At the end of the day, the doctor has a professional responsibility to appropriately meet the needs
of the patient but also to keep control of a consultation so that it does not affect other
consultations which follow. In most consultations, this is not difficult, but with a small
proportion of patients, particularly those who have mental health and/or psychosocial issues to
deal with, maintaining control and managing time can be challenging.19
A balance must be struck between maintaining control and not undermining the doctor–patient
relationship.
The doctor having a ‘wide-angle lens’ on the consultation, so that he or she is mindful of where
they are up to in the consultation and how much time has been taken up already, as well as the
actual medical issues being discussed, will help anticipate a problem. Doing so subtly (e.g. not
looking at a watch!) will help. It can be useful to have a wall clock situated behind the patient’s
chair or to be aware of where the consultation timer is on the computer screen. Naturally, even if
the time is way over, it may be entirely appropriate to carry on if it is an important issue, such as
with a suicidal or distressed patient.
If a consultation’s flow is becoming problematic, the doctor should employ appropriate use of
power.18 This can be done with techniques such as setting rules in advance for patients where
this is a problem (e.g. time limits for the consultation or limits on the number of concerns to be
addressed). We can also use, if required, blocking behaviours, which can be verbal or non-
verbal. These are behaviours that consciously block the flow of a consultation that is not being
appropriately controlled. Examples include the doctor using body language that suggests he or
she has something to say, or purposefully focusing on the (sometimes very short) space between
a hyper-verbal patient’s sentences to enable him or her to ’jump in’ and take control of the
consultation. On the other hand, it is important to avoid blocking approaches to effective patient
communication. These are highlighted in the following negative dozen ‘road blocks’.20
‘Road blocks’ to good communication
Judging
1. Criticising: ‘You didn’t bother to follow up that test’
2. Name-calling: ‘You are becoming a worrisome drug addict’ Page 21
3. Diagnosing: ‘I can read you like a book’
4. Praising evaluative: ‘You’re a good patient—I know you can manage this ...’
Sending solutions
1. Ordering: ‘You must stop smoking’
2. Threatening: ‘If you don’t change, you will be in dire circumstances’
3. Moralising: ‘I cannot condone that sort of behaviour—it’s wrong and won’t help you’
4. Excessive/inappropriate questioning
5. Advising/patronising: ‘When you’re overseas, be on your best behaviour’
Avoiding the other’s concerns
1. Diverting/changing the subject: ‘What did you think of the election result?’
2. Logical argument: ‘This wouldn’t have happened if you ...’
3. Reassuring: ‘What are you worrying about? Hundreds of people have to face up to that ...’
Practice tips
Using a patient-centred approach leads to improved patient trust and satisfaction,
more appropriate prescribing and more efficient practice.
Undertaking the strategies of facilitation, the open-to-closed cone and
summarisation will help us effectively elicit patient concerns.
Associated with listening, observe non-verbal language, which may in many
instances be the most significant part of the communication process.
Techniques that will help maximise patient understanding are signposting, ‘chunk
and check’, avoiding jargon and using visual and physical techniques to
communicate.
Collaborative decision making helps the negotiation of what happens in the
consultation and also avoids communication breakdowns.
Key features of good communication21
 A patient-centred approach
Eliciting all of the patient’s concerns
Exploring the patient’s ideas, beliefs and expectations
Listening
Showing empathy and respect
Summarising
Avoiding jargon
Collaborative decision making
Good closure
References
1 Elliott-Binns E. Medicine: The Forgotten Art. Tunbridge Wells, Kent: Pitman Books,
1978: 35.
2 Macnab F. Changing levels of susceptibility. In sickness and in health. Aust Fam
Physician, 1986; 15: 1370.
3 NYU Macy Initiative on Health Communication. Overview of the Structure and Sequence
of Effective Doctor Patient Communication. New York University, 2001.
http://nyumacy.med.nyu.edu/curriculum/model/m07.html, accessed September 2013.
4 Makoul G. Essential elements of communication in medical encounters: the Kalamazoo
consensus statement. Acad Med, 2001; 76: 390–3.
5 Bodenbeimer H, Laing B. The teamlet model of primary care. Ann Fam Med, 2007; 5:
457–61.
6 Epstein R et al. Have you really addressed your patient’s concerns? Family Practice
Management, 2008; 15(3): 36–40.
7 Middleton R, McKinley R, Gillies C. Effect of patient completed agenda forms and
doctor’s education about the agenda on the outcome of consultations: randomised control
trial. BMJ Online, 2006.
8 Calgary-Cambridge Guide to the Medical Interview—Communication Process. Available
from: https://www.gp-training.net/communication-skills/calgary-cambridge-
model/communication-process/, accessed October 2013.
9 Egan G. The Skilled Helper (6th edn). Boston: Brooks Cole, 1998: 7–8.
10 Baker L, O’Connell D, Platt F. ‘What else?’ Setting the agenda for the clinical interview.
Ann Intern Med, 2005; 143: 766–70.
11 Takemura Y, Atsumi R, Tsuda T. Identifying medical interview behaviors that best elicit
information from patients in clinical practice. Tohoku J Exp Med, 2007; 213(2): 121–7.
12 Mauksch L, Hillenburg L, Robins L. The establishing focus protocol: training for
collaborative agenda setting and time management in the medical interview. Families,
Systems and Health, 2001; 19(2): 147–57.
13 Mehrabian A. Silent Messages. Belmont, CA: Wadsworth, 1971.
14 Politi M, Street R. The importance of communication in collaborative decision making:
facilitating shared mind and the management of uncertainty. J Eval Clin Pract, 2011; 17:
579–84.
15 Wensing M et al. Deconstructing patient centred communication and uncovering shared
decision making: an observational study. BMC, 2002; 2: 2.
16 Charles C, Whelan T, Gafni A. What do we mean by partnership in making decisions
about treatment? BMJ, 1999; 319(7212): 780–2.
17 Epstein R, Peters E. Beyond information: exploring patients© preferences. JAMA, 2009;
302: 195–7.
18 Stewart M, Gilbert B. Reflections on the doctor–patient relationship: from Page 22
evidence and experience. BJGP, 2005; 55(519): 793–801.
19 Elder N, Ricer R, Tobias B. How respected family physicians manage difficult patient
encounters. J Am Board Fam Med, 2006; 19: 533–41.
20 Baker L, Chanen A, Morton A, Mendel S. Rhedwest Communication Skills. Proceedings.
Centwest/Rhedwest Training Program Workshop, 2003: 2–3.
21 Lloyd M, Bor R. Communication Skills for Medicine (3rd edn). Elsevier, 2009: 240–2.
 Page 23
4 Counselling skills
The doctor should have a kind disposition, great patience, self-possession, meticulous freedom
from prejudice, an understanding of human nature resulting from an abundant knowledge of the
world, adroitness in conversation and a special love of his calling.
G GRIESINGER 1840
The term counselling refers to the giving of advice to help direct or influence the decisions or
actions of another. In the clinical context counselling can be defined as the therapeutic process of
helping a patient to explore the nature of his or her problem in such a way that he or she
determines his or her decisions about what to do, without direct advice or reassurance from the
counsellor.
The counselling process in general practice is based on the therapeutic effect of the doctor. There
is an enormous and ever-increasing need for people in the community to have many of their
emotional and social problems addressed by the health profession. Modern medicine has
acquired a much more scientific face over recent years at the expense of its once respected
humanistic one. Medicine is primarily a humanitarian pursuit, not an economic or scientific one,
and uses science as a tool. Many feel that medicine is losing sight of this, at the considerable
expense of its standing in the community.1
The public perceives that GPs can and do counsel people because more people go to their GP for
counselling than to any other group of health workers, including psychologists, psychiatrists,
social workers, marriage guidance counsellors and clergy.1 People do not generally tell the
doctor or even realise that counselling is exactly what led them to come to the doctor in the first
place. The GP is, therefore, ideally placed in the community to make the most significant
contribution to fill the community’s needs in this area.
The GP as an effective counsellor
GPs can be effective counsellors for the following reasons:2
They have the opportunity to observe and understand patients and their environment.
They are ideally placed to treat the whole patient.
Their generalist skills and holistic approach permit GPs to have a broad grasp of a patient’s
problems and a multifaceted approach to treatment.
They can provide treatment in comfortable and familiar surroundings, including the doctor’s
rooms and the patient’s home.
They are skilled at working as a member of a professional team and directing patients to more
expert members of the team as necessary.
They can readily organise ‘contracts’ with the patient.
They often have an intimate knowledge of the family and the family dynamics.
They fit comfortably into continuing patient care with appropriate follow-up treatment
programs.
To be an effective counsellor the GP must prepare for this role, first by making a commitment to
its importance, then by acquiring the knowledge and skills for basic counselling by reading,
attending workshops and discussing cases with colleagues who are skilled in counselling.2
Appropriate workshops are those based on the seminal model of therapy by Balint,3 which aim to
teach the patient new coping skills and so alleviate symptoms and improve the patient’s
functioning in social and occupational roles. Well-developed interviewing skills are essential, as
is self-discipline to appreciate one’s strengths and limitations.
Features of counselling
Doctors can respond to patients’ problems and distress by a spectrum of behaviours from doctor-
centred, directive behaviour (directed psychotherapy) or advice at one end, to patient-centred,
non-directive behaviour at the other, where the patient does most of the talking (expressive
psychotherapy).2 In handling psychosocial problems, advice-giving is at one end of the spectrum
and psychotherapy at the other.
Counselling, as an activity in general practice, can be represented by a moving point Page 24
between these two extremes.1
Counselling can be seen as having the following features:1
It is a clear-cut treatment option, like a course of antibiotics.
It is a cooperative problem-solving process.
 It is an educational venture where patients learn new information and new activities.
Counselling models
It is a developmental process for patients.

It is a change process—often moving a patient from a ‘stuck state’. The PLISSIT model
It is a goal-directed activity. The PLISSIT model, developed by Annon (1974)5 as an aid in therapy for sexual problems, is a
very useful model for problems presented as feelings where there is limited scope for
It is a process of energising patients and lifting their morale. intervention by the therapist.

It is a sensitive response to problems within a caring relationship. The mnemonic PLISSIT stands for the following:

P is for permission giving

A problem-solving approach
LI is for limited information
Defining the problem (what the matter really is) is the most important step in the process of
patient care. The following outline is one approach to counselling that is applicable to a general SS is for specific suggestion
practice context.1
IT is for intensive therapy
1. Listen to the problem of first presentation: this involves listening not only to issues, events and
Annon emphasises that every primary care practitioner should be competent to offer ‘permission
experiences, but also to the patient’s feelings and distress. The emphasis here is more on the
giving’ and ‘limited information’.
communication skills of facilitation, silence, clarification, reflection, paraphrasing,
confrontation and summary, than on questioning. In many cases this phase of the counselling
constitutes the major part of the therapy; for example, in grief or bereavement counselling, the The Colagiuri and Craig model
doctor supports the patient through a natural but distressing process.
The medical counselling model was developed by Colagiuri and Craig (see FIG. 4.1 )6 as a
2. Define the problem, if possible, in behavioural terms: useful tool for teaching contraceptive, abortion and sterilisation counselling. It can be applied in
most situations as it empowers the patients to make their own decisions through facilitation, as
Beneath the feeling is the experience, beneath the experience is the event, the event is opposed to the directive and advisory learning model.
related to a problem.4

3. Establish a contract for counselling, with an agreed number of visits initially (e.g. weekly half-
hour or hour appointments for 4 to 6 weeks).

4. Define short-term and long-term goals for action.

5. Decide on one option—‘experimental action’.

6. Build an action program with the patient—negotiate ‘homework’ for the patient between
visits.

7. Evaluate progress.

8. Continue action or select another option.

9. Evaluate progress.

10. Terminate or refer. FIGURE 4.1 Medical counselling model

 Source: Colagiuri and Craig6 Counselling is difficult if a social relationship is present.

Don’t say to the patient ‘I’m counselling you’ or ‘I’m giving you psychotherapy’—make it a
The value of patient-centred counselling natural communication process.

There is evidence that the use of non-directive counselling techniques leads to more accurate The therapist must be versatile and adapt a counselling style to the clinical occasion.
diagnosis and therefore to more appropriate management and an improved outcome.7
Characteristics of the effective counsellor have been demonstrated to be genuineness, non-
Jerome Frank wrote in 1967: ‘The field of counselling and psychotherapy has for years presented possessive warmth for the patient, and accurate and empathetic understanding.
the puzzling spectacle of unabating enthusiasm for forms of treatment where effectiveness could
not be objectively demonstrated’.8 Traux and Carkhuff9 measured important aspects of the
psychotherapeutic relationship and demonstrated what had long been recognised: the outcome A fundamental feature of counselling is reflective listening to direct patients to think
was enhanced if practitioners had such qualities as accurate and sensitive awareness of the about and then resolve their problems.
patient’s feelings, deep concern for the patient’s welfare (without attempting to dominate) and
openness about their own reactions.
Some useful interviewing skills used in counselling are summarised in TABLE 4.1 .
The essential feature of the patient-centred approach is that the counsellor is more like a Page 25
facilitator; that is, by the asking of well-directed questions it is hoped that patients can
realise their own solutions for their problems.1 This encourages patients to attain understanding Table 4.1 Interview skills used in counselling
and personal growth themselves rather than just put their personal affairs in the hands of
someone else. This does not mean to say that the facilitator is passive in the process of assessing
Use reflective statements.
the relative merit of various solutions produced by the patient. The doctor-centred approach is
most applicable for patients who are so confused or distraught that their ability to reflect usefully Use silence.
is temporarily or permanently inaccessible. Here, taking a more active and authoritarian role may Allow expressions of emotion.
be just what is required. It is therefore important to be flexible and move between the two ends Offer supportive comments.
of the spectrum as needed. Paraphrase and summarise.
Allow patients to correct your interpretations of their feelings.
Basics of counselling and psychotherapy Observe lack of congruence.
Try to understand what the patient is feeling:
Listening and empathy are the beginning of counselling. anger
Good communication is the basis of counselling. hostility
fear
The therapist must really care about the patient. manipulation
Always be aware of the family context. seduction
insecurity
It is important for therapists to handle and monitor their own feelings and emotions. Make intelligent guesses to prompt patient to continue.
Don’t reassure too soon.
Maintain eye contact.

The therapist must tolerate and be comfortable with what the patient says.

Confidentiality is essential.
Counselling strategies4,7
Counselling is easier if there is a good rapport with the patient, especially if a long-standing
The therapy should be patient-centred.
relationship exists.
Use gentle, clever, probing questions. their care and take responsibility for change.

Facilitate the discussion to draw out relevant areas. Avoid:

It is important to be non-judgmental. telling patients what they must do/offering solutions

Counsel through intuition and base it on common sense. giving advice based on your own personal experiences and beliefs

Do not tell the patient what to do. bringing up problems that the patient does not produce voluntarily

Do not try to rush patients into achieving a happy ending. Page 26

What counselling is not
Provide guidance to allow the patient to gain insight.
Giving information
Wherever possible, make therapy non-authoritarian and non-directional.
Giving advice
Use appropriate ‘gentle’ confrontation to allow self-examination.
Being judgmental
Help patients to explore their own situation and express emotions, such as anxiety, guilt, fear,
anger, hope, sadness, self-hate, hostility to others and hurt feelings. Imposing one’s own values, behaviour and practices

Explore possible feelings of insecurity and allow free expression of such feelings. The same as interviewing

Explore patients’ belief systems and consider and respect their spiritual aspirations and Handing out patient education material
conflicts.
Cautions1
Ask key searching questions, such as:
Individual doctors cannot be useful to all patients, so be selective.
‘What would be different in your life if you were well?’
We cannot solve patients’ problems for them.
‘Who are you mad at?’
Patients’ problems belong to them and not to their counsellors.
‘If I understand you correctly you are telling me that ...’
Patients often have to change by only an inch in order to move a mile.
‘You seem to be telling me that ...’
If a counselling relationship is no longer productive, then terminate and refer.
‘Correct me if I’m on the wrong track, but you are saying that ...’
Most patients in primary care need information, support and a lift in morale, not long-term
‘What do you think deep down is the cause of your problem?’ psychotherapy.
‘What does your illness do to you?’
Patients unlikely to benefit
‘Do you really worry about any things in particular?’
The following groups of patients are not likely to benefit from counselling therapy1 (i.e. relative
‘How do you think your problem should be treated?’
contraindications):
‘If you could change anything in your life, what would it be?’
psychotic patients
Empower your patient. Better outcomes are likely if your patients are active participants in
patients who have had an unrewarding experience with psychiatrists and other
 psychotherapists
people who are antagonistic to the notion of a psychosocial diagnosis, subsequently found to
be organic
patients with little awareness or language to express emotional difficulty
patients who do not believe doctors can treat psychosocial problems
patients with a vested interest in remaining unwell who are therefore resistant to
change (e.g. patients with work-related disabilities awaiting legal settlement)
patients with chronic psychosomatic tendencies who are willing to do almost anything to
maintain the relationship
those in an intractable life situation who are unable or unwilling to change
Types of psychotherapy2,10
Interpersonal psychotherapy/counselling, ideal for primary care and the treatment of
depression, is therapy for interpersonal problems.
Mindfulness based on intervention therapy.
Behaviour therapy (BT) is where the patient is directed to do something.
Cognitive therapy (CT) is based on the identification of automatic thoughts that are invariably
negative. Cognitions are thoughts, beliefs and perceptions.
Cognitive behaviour therapy (CBT), which combines BT and CT.
The psychotherapy continuum is illustrated in FIGURE 4.2 .2
FIGURE 4.2 Psychotherapy continuum
Source: Selzer R, Ellen S. Psych-lite: Psychiatry That’s Easy to Read. Sydney: McGraw Hill, 2010: 70–3
Cognitive behaviour therapy
CBT is a form of non-pharmacologic treatment emphasising self-help and aiming to change
perceptions and behaviour that may perpetuate symptoms and disability. It is basically a system
of graded exposure (systematic desensitisation). It can be applied in any area of medical practice
as a form of psychotherapy and is suitable in general practice for the treatment of depression,
insomnia, eating disorders, delusions and hallucinations in psychotic disorders and anxiety in all
forms, especially social anxiety disorder and phobias—in all of which CBT has proved to be
better than a placebo.11
It is a relatively brief, active, directive and practical form of therapy. However, not all therapists
Page 27
or patients are suited to CBT.
The basic processes of CBT are to:
define specific and concrete goals for functional activities and moods, e.g. pain control
educate the patient
teach basic skills for symptom control, relaxation and breathing control (especially for
hyperventilation)
identify, challenge and change maladaptive thoughts, feelings, perceptions and behaviour
Some basic principles and objectives of CBT are to:
aim to bring about a desired change in patients’ lives, i.e. aim to achieve desired goals
assess, monitor and attempt to modify thoughts and behaviour
reinforce positive behaviour and discourage negative behaviour
educate about any misconceptions about a patient’s illness
encourage the patient to be an active participant (not a passive recipient)
get patients to establish a problem list and hierarchy of problems
aim for more realistic thinking and more adaptive responses
Mindfulness
Mindfulness, which is based on meditation, is the process about raising awareness and a special
way of paying attention to help the person cope with the daily events in their life.
The basic processes of mindfulness are to:
train people to focus on the positive aspects of their lives and shut out distraction and
negativity, i.e. attention training
learn to concentrate in a restful way and cope with stress
 emphasise attentiveness to the present moment

voluntarily reign in a wandering attention time and again

Specific areas of counselling

Opportunities for basic counselling by the GP are ubiquitous in medical practice. Complex
problems require referral but, even then, the GP still has an important role in continuing
management.

Areas demanding counselling include:

any crisis situation—breaking bad news

bereavement or grief

terminal illness/palliative care (CHAPTER 126 )

marital problems (CHAPTER 1 )

family problems (CHAPTER 1
sexual dysfunction (CHAPTER 108
chronic pain
anxiety and stress (CHAPTER 70
FIGURE 4.3 Counselling skills: these skills include good eye contact,
) Page 28
listening, empathy and appropriate communication skills
)
Aims of crisis intervention
Resolve the crisis and restore psychological equilibrium as quickly and constructively as
) possible.

depression (CHAPTER 10 ) Encourage the person in crisis to regain control and take appropriate action.

intellectual handicap in a child Principles of management

infertility (CHAPTER 107 ) Intervene early—actively and directly.
any disease or illness, especially severe illness Establish an empathetic alliance.
sexual abuse/child abuse (CHAPTER 88 ) Be accessible.
intimate partner violence (CHAPTER 110 ) Attend to family and social supports.
insomnia and other sleep disturbances (CHAPTER 63 ) Be prepared for the difficult phase of 24–48 hours.

Crisis management Do not carry the burden of crisis.

Aim for brief, time-limited intervention (no more than six interviews over 6 weeks).
Crisis situations are not uncommon in general practice and people in crisis are usually highly
aroused and demanding. Examples include tragic deaths, such as children drowning or sudden When necessary, be prepared to provide short-term use of psychotropic drugs (e.g. a hypnotic)
infant death syndrome (SIDS), unexpected marital break-up and breaking bad news. for two or three nights of good sleep.
 Ten rules to help those in distress
The following rules are given to those in crisis (personal explanation followed by a take-home
hand-out):
1. Give expression to your emotions. You need to accept your reactions as normal and not be
afraid to cry or call out. Try not to bottle up feelings.
2. Talk things over with your friends. Try not to overburden them but seek their advice and listen
to them. Do not avoid talking about what has happened.
3. Focus on things as they are now—at this moment. Aim not to brood on the past and your
misfortune. Concentrate on the future in a positive way.
4. Consider your problems one at a time. Try not to allow your mind to race wildly over a wide
range of problems. You can cope with one problem at a time.
5. Act firmly and promptly to solve a problem. Once you have worked out a way to tackle a
problem, go for it. Taking positive action is a step in allowing you to get on with life.
6. Occupy yourself and your mind as much as possible. Any social activity—sports, theatre,
cards, discussion groups, club activity—is better than sitting around alone. Many people find
benefit from a holiday visit to an understanding friend or relative. Religious people usually
find their faith and prayer life a great source of strength at this time.
7. Try not to nurse grudges or blame other people. This is not easy but you need to avoid getting
hostile. In particular, endeavour not to get angry with yourself and your family, especially
your spouse.
8. Set aside some time every day for physical relaxation. Make a point of doing something
physical, such as going for a walk, swimming or enjoying an easy exercise routine.
9. Stick to your daily routine as much as possible. At times of crisis a familiar pattern of regular
meals and chores can bring a sense of order and security. Avoid taking your problems to bed
and thus ensuring sleepless nights. Try to ‘switch off’ after 8 pm. Taking sleeping tablets for
those few bad nights will help.
10. Consult your family doctor when you need help. Your doctor will clearly understand Page 29
your problem because stress and crisis problems are probably the commonest he or
she handles. Consult your doctor sooner rather than later.
Remember that there are many community resources to help you cope (e.g. your religious
leader, social workers, community nurses, crisis centres and organisers within churches and
other religious centres).
Take care: do drive carefully and avoid accidents, which are more common at this time.
Bereavement
Bereavement or grief may be defined as deep or intense sorrow or distress following loss.12
Raphael uses the term to connote ‘the emotional response to loss: the complex amalgam of
painful affects including sadness, anger, helplessness, guilt, despair’.13
The GP will see grief in all its forms over a wide variety of losses. Although the nature of loss
and patient reaction to it varies enormously, the principles of management are similar.
Stages of normal bereavement
1. Shock or disbelief. Feelings include numbness and emptiness, searching, anxiety, disbelief (‘I
don’t believe it’), fear and suicidal ideation. Concentration is difficult and spontaneous
emotions, such as crying, screaming or laughing, tend to occur. There may be a sense of the
deceased’s presence, and hallucinations (visual and auditory) may occur.
2. Grief and despair. Feelings include anger, ‘Why me?’, guilt and self-blame, and yearning.
Social withdrawal and memory impairment may occur. The feeling of intense grief usually
lasts about 6 weeks and the overall stage of grief and despair for about 6 months, but it can
resurface occasionally for a few years. The last few months involve feelings of sadness and
helplessness.
3. Adaptation and acceptance. Features of the third stage include significant feelings of apathy
and depression. This phase takes a year or more. Physical illness is common and includes
problems such as insomnia, asthma, bowel dysfunction, headache and appetite disturbances.
Pathological bereavement
Pathological bereavement can occur and may manifest as intense emotion, particularly anger,
and multiple visits with somatic complaints; the patient often gets around to long dissertations
about the deceased and the circumstances surrounding death. Extreme anger is likely when the
sense of rejection is great, as with divorce or sudden death. Guilt can also be intense.12
Raphael’s classification of the patterns of pathological grief and its various resolutions are
presented in TABLE 4.2 .13
Table 4.2 Patterns and resolution of pathological grief
Morbid or pathological patterns
Absence, inhibition or delay of bereavement
Distorted bereavement
Chronic grief (intense anguish continues unabated)
 Outcomes Normal bereavement can persist for years. Ongoing counselling is indicated if it continues
Normal resolution, satisfactory adjustment; reintegration in life, satisfying unabated, or psychiatric referral sought if grief is extreme. Regular enquiries during routine
attachments consultations or meetings are important if the patient appears to be coping.
General symptomatology (leading to increased care-eliciting behaviour)
Depression, suicidal behaviour Breaking bad news
Other psychiatric disorders (anxiety state; phobia; mania; alcoholism; criminal
activity, such as shoplifting) Good communication skills are fundamental to giving bad news appropriately. When bad news is
Altered relationship patterns broken insensitively or inadequately the impact can be distressing for both giver and recipient,
leaving lasting scars for the latter. For the doctor it may represent professional failure, fear of
Vulnerability to loss
people’s reaction and feelings of guilt. Doctors should have a plan for this difficult process and
Anniversary phenomenon learn how to cope with the recipient’s reaction. Most of the circumstances described apply to
Death (more likely in the first 12 months) unexpected death or anticipated death.14

Sharing bad news with a patient

The GP as counsellor1
This difficult task is based on sound communication skills and good dialogue. The meeting
Important rules to bear in mind: should be face to face, not over the phone or internet.

The bereaved may be feeling very guilty. Basic guidelines

They may be angry towards their doctor or the medical profession in general. Plan the consultation, review clinical data, set aside ample time.

They need a clear explanation as to the exact cause and manner of death. Autopsy reports Meet in an appropriate room with privacy and no interruption.
should be obtained and discussed.
Ask the patient if they would like company (e.g. a relative or friend).
The bereaved tend to view an apparent lack of concern and support as disinterest or guilt.12
Make good eye contact and be alert for non-verbal responses.
Early intervention averts pathological grief.
Use simple, understandable language; avoid medical jargon, speak clearly and sensitively.
The GP probably had a close relationship with the deceased and the family. The GP will have a
special awareness of those at risk and the nature of the relationships within the family. The Be honest and diplomatically to the point (don’t cover up the issue).
family is likely to maintain the relationship with the GP, expressing the physical and
Allow time, silence, tears or anger.
psychological effects of grief and consulting about intercurrent problems.12
Avoid inappropriate methods (refer to ‘avoid’ in TABLE 4.4 ) and don’t give precise
Working through the stages of grief with patients will allow GPs to reach some Page 30
predictions about life expectancy.
acceptance of their own emotions, as well as ensure that patients feel supported and
cared for, rather than distanced by embarrassment. Write down significant points and use sketches or diagrams as appropriate.
Help from religious sources is highly valued as it can meet both spiritual and personal needs.
Other resources include funeral directors, hospice (and other) counsellors and support groups,
Management
such as those for SIDS.12 Follow the 10 basic steps of the management interview (see CHAPTER 2 ) with the emphasis on
the patient’s understanding of the message and his/her feelings about it (see TABLE 4.3 ). Offer
At least 30 minutes should be allowed for consultations.
ongoing support and arrangements for continuing involvement, including allied health
professionals.
Long-term counselling

Table 4.3
 Table 4.3 Seven-step protocol for breaking bad news
1. Assess the patient’s interest in, and capacity for, detailed information.
2. Establish the patient’s beliefs about the illness, and what he or she wants to
know.
3. Provide accurate information in small doses, checking regularly what has been
understood.
4. Monitor how the patient feels about the problem and what has been said.
5. Repeat the messages as the illness progresses, especially after each new step
of management and/or deterioration.
6. Involve family members as much as the patient wants.
7. Plan for continued involvement. An assurance of continuing contact between
doctor and patient is important.
Remember that there are two ‘patients’—child and family. The same ‘bad news’ Page 31
principles apply. Talk in age-appropriate terms to the child with the aim of establishing
their understanding of their illness and feelings.
Unexpected death
Some basic initial rules:16
If relatives have to be contacted it is preferable for the doctor (if at all possible) or a
sympathetic police officer to make the contact personally, rather than a relatively matter-of-
fact telephone call from the hospital or elsewhere.
If a telephone message is necessary, it should be given by an experienced person.
The relatives or close friends should not drive to the clinic alone.

The setting for the interview:

Source: Buchanan15
Use a suitable quiet private room if possible.
Coping with patient responses
See the recipients of the news alone in the room.
The responses cover a wide range—stunned silence, disbelief, acute distress, anger, extreme
guilt. Advise that the meeting should be undisturbed.

Be prepared for any of these responses. Guidelines for the doctor

Appropriate training using simulated patients, video replays and skilled feedback improves Be well prepared: check the facts and plan your approach.
communication skills.
Always ask those involved if they have heard any news or know the reasons for the
Give permission and encouragement for reactions, such as crying and screaming. consultation.

Have a box of tissues available. Always assess their understanding.

A comforting hand on the shoulder or arm or holding a hand is an acceptable comfort zone. Give information in an unhurried, honest, balanced, empathetic manner.17

Offer a cup of tea or a cool drink if available. Look directly at the person you are talking to, be honest and direct, and keep information
simple (avoid technical language).
Ask the patients or relatives how they feel, what they would like to do and if they want you to
contact anyone. The sad news must be accompanied by positive support, understanding and encouragement.

Arrange follow-up. Give recipients time to react (offer time and moments of silence to allow the facts to sink in)
and opportunities to ask questions.
Give appropriate patient education material.
Avoid false reassurance.
Provide information about support services.
Remember that relatives appreciate the truth and genuine empathy.
Children
In the event of death, relatives should be given a clear explanation of the cause of death.
A list of guidelines for the interview is summarised in TABLE 4.4 .16 amounts than usual in the nervous system. It is rather like a person low in iron becoming anaemic.

Depression can follow a severe loss such as the death of a loved one, a marital separation or financial loss. On
the other hand, it can develop for no apparent reason, although it may follow an illness such as glandular fever or
Table 4.4 influenza, an operation or childbirth.
Breaking bad news for unexpected death:
recommended actions during the interview Emphasising the ‘missing chemical’ theory really helps patients and family come to Page 32
terms with an illness that tends to have socially embarrassing connotations. It also helps
Allow compliance with therapy when antidepressant medication is prescribed.
Time Ongoing contact, support and availability are an important component of counselling, with
Opportunities to react appropriate referral to someone with more expertise, should that be required. CBT is a most
Silence effective and important approach to the management of depressive illness.
Touching
Free expression of emotions Chronic pain
Questions
Viewing of a dead or injured body Patients suffering from long-term pain are a special problem, especially those with back pain
who seem to be on a merry-go-round of failed multiple treatments and complex psychosocial
Avoid problems. These patients are frequently treated in pain clinics. As family doctors, we often
Rushing observe an apparently normal, pleasant person transformed into a person who seems neurotic,
Bluntness pain-driven and doctor-dependent. The problem is very frustrating to the practitioner, often
Withholding the truth provoking feelings of suspicion, uncertainty and discomfort.
Platitudes De Vaul and colleagues19 list five subgroups of patients where perplexing pain presents as the
Protecting own inadequacies major symptom:
Euphemisms
1. pain as a symptom of depression
The notion ‘nothing more can be done’
Using medical jargon 2. pain as a delusional symptom of psychosis
Meeting anger with anger
Leaving the patient or loved one without a follow-on contact 3. pain as a conversion symptom of hysterical neurosis

4. pain as a symptom of an unresolved bereavement reaction

Source: McLauchlan16 5. pain as a symptom of a ‘need to suffer’

Patients who somatise their symptoms present one of the most difficult challenges to our skills
The depressed patient and usually require a multidisciplinary team approach.

Studies have emphasised the importance and therapeutic efficacy of counselling in the Management involves:
management of the depressed patient.18 The most practical approach by the GP to the depressed
patient is empathy, support and a logical explanation of their malaise. The author gives the thorough medical assessment
following explanation to the patient.
psychological assessment
Depression is a very real illness that affects the entire mind and body. It seriously dampens the five basic
activities of humans, namely their energy for activity, sex drive, sleep, appetite and ability to cope with life. detailed explanations to the patient and family about treatment
They cannot seem to lift themselves out of their misery or fight it themselves. Superficial advice to ‘snap out of
it’ is unhelpful because the person has no control over it.
rational explanations about the cause of the pain
The cause is somewhat mysterious but it has been found that an important chemical is present in smaller
 management of associated problems (e.g. depression, sexual dysfunction) Excessive drinking

behavioural modification to encourage increased activity and a gradual return to normality First-line management

Problem gambling Ask (as part of social history).

Consider South Oaks Gambling screen to support provisional diagnosis.20

Problem or pathological gambling is a persistent and recurrent behaviour despite its detrimental
effect (disruption of personal, family or work life). It is undoubtedly a dependence disorder Confront firmly if suspected.
similar to alcohol and other drugs, with a similar approach to management. Refer to DSM-5
criteria for pathological gambling. Prevalence: 0.5–1.5% adult population. Consider using the Prochaska and DiClemente model of change (CHAPTER 12 ).

Dangers Provide education material.

Suicide risk (high) Look into the family (domestic violence?) and provide support.

Major depression (up to 75%) Advise the family not to provide ‘rescue money’.

Stress-related problems There is no recommended pharmacological treatment.

Domestic violence Counselling approach

Page 33
Key warning Problem gambling is a treatable condition and GPs can provide a central role in
management. As for smoking and alcohol dependence, a brief intervention and education
Gambling >$200 week consultation session about the impact of excessive behaviour can be most effective. CBT is a
very effective treatment for gambling. It combines systematic discussion and carefully structured
Chasing losses behavioural assignments to help patients modify problematic thinking patterns and behaviours.
‘CBT directed towards correcting erroneous perceptions, irrational beliefs and misunderstanding
Other telltale signs of concepts of randomness and independence of chance events is a fundamental element of any
therapeutic approach.’21
Spending many hours gambling
It is appropriate to use specialist gambling counsellors when one’s intervention is not proving
Placing larger, more frequent bets effective or where there is evidence of disturbing gambling problems. (Refer to:
www.gaaustralia.org.au)
Lying about behaviour

Being secretive Family counselling

Promising cutting back, but not doing it
Relationship disharmony
Impulsive activity
Family doctors often have to provide counselling for one or both partners in a relationship. The
Mood swings problems may be resolved quite simply or be so complex that relationship breakdown is
inevitable despite optimal opportunities for counselling.
Gambling at the expense of other pleasant social activities
Opportunities for prevention, including anticipatory guidance about relationship problems, do
Growing debts exist and the wise practitioner will offer appropriate advice and counselling. Examples include
an accident to a child attributable to neglect by a parent, or similar situation in which that parent
may be the focus of blame, leading to resentment and tension. The practitioner could intervene Positive guidelines for success (summary)22
from the outset to alleviate possible feelings of guilt and anger in that relationship.
1. Know yourself.
Some common causes of relationship disharmony are:
2. Share interests and goals.
selfishness, jealousy
3. Make love, not war.
unrealistic expectations
4. Cherish your partner.
financial problems/meanness
5. Prepare yourself for parenthood, where relevant.
poor communication, not listening to each other
6. Seek proper help when necessary.
sickness (e.g. depression)
7. Do unto your partner as you would have your partner do unto you.
drug or alcohol excess

fault finding, ‘playing games’ with each other The BE attitudes (virtues to help achieve success)
driving ambition BE honest BE loyal
BE loving BE desiring
immaturity
BE patient BE fun to live with

Basic counselling of couples/families BE forgiving BE one

The following text on basic counselling of couples22 can also be regarded as a patient education BE generous BE caring
sheet:

The two big secrets of relationship success are caring and responsibility. Making lists—a practical task
Make lists for each other to compare and discuss.

Some important aspects List qualities (desirable and undesirable) of your parents.

Research has shown that we tend to choose partners who are similar to our parents and that we
may take our childish and selfish attitudes into our relationships.
We often expect our partner to change and meet our needs.
If we take proper care and responsibility, we can keep these problems to a minimum.
Physical passion is not enough to hold a relationship together—‘when it burns out, only ashes
will be left’.
While a good sexual relationship is great, most experts agree that what goes on out of bed
counts for more.
When we do something wrong, it is most important that we feel forgiven by our partner.
List qualities of each other.
List examples of behaviour each would like the other to change.
List things you would like the other to do for you.
Put aside special quiet times each week to share these things.
Pitfalls23
Page 34
The GP who is too closely attached to one member of a couple can easily become
trapped in the role of the ‘rescuer’ or ‘saviour’ of that person. The best defence against this trap
is to respect the couple’s autonomy and work with them to achieve the goals they set for
themselves, thus avoiding three major pitfalls for the GP in treating couples or families:
1. assuming personal responsibility for changing the family guilt, fear, anger, hostility and hurt feelings.

2. working alone, neglecting the assistance of the family Explore possible feelings of insecurity and allow free expression of such feelings.

3. becoming a ‘rescuer’ or ‘saviour’ Ask key searching questions, such as:

Other pitfalls What do you think deep down is the cause of your problem?

Conducting family therapy in the absence of a significant family member How do you think your problem should be treated?

Breaching confidentiality of individuals within a relationship or family Provide ‘okay’ specific suggestions, such as:

Failing to recognise the ‘ganging-up effect’ I wonder if your basic problem is that you are a perfectionist?

Taking sides Many people in your situation feel guilty about something that may be trivial
and need to feel forgiven.
Failing to use available resources
Effective counselling comes from commitment, experience and a genuine caring and
Overrelating to your own experiences compassionate feeling for patients and their ethos.

Possible solutions to avoid pitfalls23

Let the couple do the work. Key rules to counselling
Ensure that the goals for therapy are realistic. The patient must leave feeling better.
Point out that all family members have to work together and that therapy works best when Provide insight into their illness and/or behaviour.
there is openness on all sides.
Address any feelings of guilt (people must feel okay or forgiven about any
Identify any tendency to look for scapegoats within the family. perceived transgression).
Look out for vulnerable family members—the ‘hidden patient’.

Avoid trying to achieve quick solutions. If one feels out of one’s depth, then immediate referral to an expert is important. CBT is an
appropriate therapy for most conditions.
Obtain clear-cut agreements on confidential matters and record this in the history.

Keep an open mind and avoid forcing your own values on to the family. Patient education resources
Share the burden with a colleague or other resources. Hand-out sheets from Murtagh’s Patient Education 8th edition:

Depression
Summary: counselling skills strategies
Coping with a crisis
Provide guidance and facilitation to allow the patient to gain insight.
Bereavement
Use appropriate ‘gentle’ confrontation to allow self-examination.
Gambling: problem gambling
Help patients to explore their own situation and express emotions such as anxiety,
 disclosure of diagnosis inevitable? Dev Med Child Neurol, 1984; 26: 33–9.
References
18 Williams CD. Overcoming Depression and Low Mood: A Five Areas Approach (3rd edn).
1 Hassed C. Counselling. In: Final Year Handbook. Melbourne: Monash University, London: Hodder Education, 2009.
Department of Community Medicine, 1992: 97–104.
19 De Vaul RA, Zisook S, Stuart HJ. Patients with psychogenic pain. J Fam Pract, 1977; 4(1):
2 Selzer R, Ellen S. Psych-lite: Psychiatry That’s Easy to Read. Sydney: McGraw Hill, 53–5.
2010: 70–3.
20 Lesieur HR, Blume S. The South Oaks Gambling Screen (SOGS): a new instrument for
3 Balint M. The Doctor, His Patient, and the Illness (2nd edn). London: Pitman, 1964. the identification of pathological gamblers. Am J Psychiatry, 1987; 144: 1184–8.

4 Harris RD, Ramsay AT. Health Care Counselling. Sydney: Williams & Wilkins, 1988: 21 Blaszczynski A. How to treat: problem gambling. Australian Doctor, 2005; 12 August:
68–95. 37–44.

5 Annon JS. The Behavioral Treatment of Sexual Problems. Vols 1 and 2. Honolulu: 22 Murtagh JE. Patient Education (7th edn). Sydney: McGraw-Hill, 2017: 2.
Enabling Systems Inc, 1974.
23 Bader E. Working with families. Aust Fam Physician, 1990; 19: 522–8.
6 Craig S. A medical model for infertility counselling. Aust Fam Physician, 1990; 19: 491–
500.

7 Cook H. Counselling in general practice: principles and strategies. Aust Fam Physician,
1986; 15: 979–81.

8 Frank JF. Foreword. In: Traux CB, Carkhuff RR. Toward Effective Counselling and
Psychotherapy: Training and Practice. New York: Aldine, 1967: ix.

9 Traux CB, Carkhuff RR. Toward Effective Counselling and Psychotherapy: Training and
Practice. New York: Aldine, 1967.

10 Psychotropic guidelines [updated 2021]. In: Therapeutic Guidelines [digital]. Page 35

Melbourne: Therapeutic Guidelines Limited; 2021. www.tg.org.au, accessed
January 2018.

11 Tiller JWG. Cognitive behaviour therapy in medical practice. Australian Prescriber, 2001;
24(2): 33–7.

12 Williams AS. Grief counselling. Aust Fam Physician, 1986; 15: 995–1002.

13 Raphael B. The Anatomy of Bereavement: A Handbook for the Caring Professions.

London: Hutchinson, 1984: 33–62.

14 VandeKieft GK. Breaking bad news. Am Fam Physician, 2001; Dec 15: 64(12): 1975–8.

15 Buchanan J. Giving bad news. Medicine Today. October 2001: 84–5.

16 McLauchlan CAJ. Handling distressed relatives and breaking bad news. In: Skinner D.
ABC of Major Trauma. London: British Medical Association, 1991: 102–6.

17 Cunningham C, Morgan P, McGucken R. Down’s syndrome: is dissatisfaction with

 Page 36 of disease) and information about methods to avoid disease (e.g. sexually transmitted infection).

Illness education

5 Health promotion and patient A lot of so-called ‘health’ education is, in reality, information about the cause of particular
illnesses. Clearly, the medical practitioner is in a pre-eminent position to provide his or her
patients with specific information about the cause of an illness at the time, either individually or
education to the family. This educative strategy has a preventive objective that is often the modification of
help-seeking behaviour.

Whoever is to acquire a competent knowledge of medicine, ought to be possessed of the
advantage of instruction.
HIPPOCRATES (460–370 BC)
Health promotion
Health promotion is the motivation and encouragement of individuals and the community to see
good health as a desirable state that should be maintained by the adoption of healthy practices. It
is also the process of helping people to increase control over and improve their health (WHO
definition 2009).
For those who feel healthy, the message may have little meaning, but it is reinforced by contact
with others who become ill, particularly within the family.
Every consultation is an opportunity to provide information about the condition under care and
this can be reinforced in written, diagrammatic or printed form. Patients’ own X-rays can be
similarly used to illustrate the nature of the problem.
Health promotion in general practice
GPs are ideally placed to undertake health promotion and prevention, mainly due to opportunity.
There are several reasons for this health promotion role:
Population access: over 80% of the population visits a GP at least once a year.2
On average, people visit a GP about five times each year.
GPs have a knowledge of the patient’s personal and family health history.
The GP can act as leader or coordinator of preventive health services in his or her local area.

The Lalonde report1 highlighted the notion that all causes of death and disease had four The GP can participate in community education programs.
contributing elements:
GPs should undertake opportunistic health promotion—the ordinary consultation can be used
inadequacies of the existing health care system not just to treat the presenting problem, but also to manage ongoing problems, coordinate care
with other health professionals, check whether health services are being used appropriately
environmental hazards and undertake preventive health activities.2
behavioural factors and unhealthy lifestyles
Opportunistic health promotion
human biological factors
The classic model by Stott and Davis (see TABLE 2.1 in CHAPTER 2 ) highlights the
Health education opportunities for health promotion in each consultation.3 Since the consultation is patient-
initiated, it is the doctor who needs to be the initiator of preventive health care. The potential in
Health education is the provision of information about how to maintain or attain good health. the consultation involves reactive and proactive behaviour by the doctor (see FIG. 5.1 ).4

There are many methods, including the advertising of health practices, the provision of written
information (e.g. about diet and exercise, immunisation, accident prevention and the symptoms
 coordination of care by organising referral to appropriate agencies or specialists and
maintaining adequate medical records

the modification of abnormal or inappropriate help-seeking behaviour (e.g. the person who
never attends is at risk from ‘silent disease’; the too-frequent attender wastes resources and
serious illness may be overlooked)

This mix of reactive and proactive behaviour is not appropriate in every consultation. It requires
counselling skills and training in the delivery of quality general practice.

Methods
Being informed and updated by maintaining continuing medical education, especially in
preventive roles.

Using health promotional material for patient education:

hand-outs

waiting room posters

waiting room video systems

Having an efficient medical record system.

Operating a patient register and recall system.

Encouraging regular health checks for at-risk groups.

FIGURE 5.1 The potential in every general practice consultation Providing regular advice on:

Source: Reproduced with permission from M Sales4 nutrition

Reactive professional behaviour deals only with the presenting complaint. It may be Page 37 exercise
performed with skill but if the practitioner is only trained to perform reactively then the
opportunity for preventive and promotive health care will be lost. stress management

Proactive behaviour is defined as professional behaviour that is necessary for the patient’s well- weight control
being, but it is performed not merely as a response to the presenting problem and it is initiated by
the doctor.4 It includes health promotion, preventive care and screening and the early detection Providing personal health records to the parents of newborn babies.
of disease, before it becomes symptomatic. Other aspects of proactive care are seen in
FIGURE 5.1 . Health goals and targets
Proactive behaviour also includes:4
Health goals and targets as determined by the Health Targets and Implementation Page 38

continuing care of a previously treated problem (e.g. rechecking blood pressure, checking Committee5 were set in three areas—population groups, major causes of illness and death, and
diabetic control, follow-up bereavement counselling) risk factors (see TABLE 5.1 ).
 Table 5.1 Established health promotion goals and targets5 diabetes mellitus

injury prevention and control

Population groups
mental health
Socioeconomically disadvantaged
Indigenous Australians
International arrivals—migrants, refugees
Promoting healthy lifestyle in general practice
Older people
GPs can provide a simple framework to encourage patients to adopt a healthy lifestyle whether
Children and adolescents they have a particular disorder or not. The acronyms act as a good aide-mémoire for practitioners
Vulnerable women and men for opportunistic health promotion.
Major causes of morbidity and mortality
Cardiovascular and cerebrovascular disease
The SNAP guide6
Cancer esp. lung, breast, cervical, prostate, skin The SNAP guide was developed by the Royal Australian College of General Practitioners to
Diabetes mellitus address important risk factors with patients with a view to encouraging change if appropriate.
Respiratory disease esp. asthma, COPD The guide comes as a comprehensive booklet and includes the ‘Estimation of absolute 5-year
Communicable diseases risk of cardiovascular events’ tables.
Mental illness The SNAP guide can be summarised by the following risk factors.
Musculoskeletal disease
Disability S = Smoking
N = Nutrition
Accidents and injury A = Alcohol
Risk factors P = Physical activity
Hypertension, high blood lipids, obesity The guide emphasises that there are health inequalities in the community because the risk factors
Drugs—smoking, alcohol, illicit drugs and substance abuse, pharmaceutical are far more prevalent in people from low-socioeconomic-status backgrounds and Indigenous
misuse/abuse Australians.
Physical inactivity
The guide focuses on the ‘5 As’ as stages of change theory to promote change of lifestyle where
Occupational and environmental health hazards
appropriate (see TABLE 5.2 ).
Inappropriate nutrition
Unprotected and unsafe sexual activity
Table 5.2 The ‘5 As’

The seven priority health areas leading to reduction of morbidity and mortality rates for 1 Ask Identify patients with risk factors
Australians are:5
2 Assess Level of risk factor and its relevance to the individual in terms of
asthma health
Readiness to change/motivation
cancer control 3 Advise Provide written information
Provide a lifestyle prescription
cardiovascular health
4 Assist Pharmacotherapies
obesity control
Support for self-monitoring
 Good nutrition is fundamental to good health. It influences management in all branches of
5 Arrange Referral to special services medicine. Modern people’s health varies from the excesses of inappropriate nutrition, resulting
Social support groups in obesity and various degenerative disorders, to malnutrition and other deficiency states seen in
Phone information/counselling services those unfortunates deprived of nutrients.
Follow-up with the GP
The essential components of nutrition10 can be classified as:

macronutrients—proteins, fats and carbohydrates, which are interchangeable sources of

This information can be accessed at: http://www.racgp.org.au/guidelines/snap. energy and also water

The NEAT guide macrominerals—sodium, chloride, potassium, calcium, phosphate and magnesium

micronutrients—water-soluble vitamins (e.g. C, B); fat-soluble vitamins (e.g. A, E, K);

The NEAT guide (see TABLE 5.3 ) is similar to the SNAP guide, but with a greater emphasis on
counselling the patient about lifestyle and the importance of stress management. essential trace elements (e.g. copper, iodine, iron, zinc)

Nutritional factors may play a vital role in the causation of several of the major diseases, such as
Table 5.3 coronary artery disease, hypertension, diabetes and cancer. Where weight loss is a goal, see
The NEAT guide CHAPTER 80.

N = Nutrition: optimal diet Special diets are important in the management of many hereditary metabolic disorders, such as
phenylketonuria and galactosaemia, and several other disorders such as coeliac disease.
E = Exercise/physical activity
A = Avoidance or moderation of potential harmful substances (CATS): Protein11
caffeine
alcohol Proteins are composed of carbon, hydrogen, oxygen, nitrogen, phosphorus, sulphur and iron.
tobacco They make up the greater part of plant and animal tissue and provide the amino acids essential
sugar, salt and social drugs for the growth and repair of tissue. Protein in the body in muscle, connective tissue and enzymes
is constantly being broken down, while dietary protein is hydrolysed to amino acids that are both
T = Tranquillity and promotion of recreation, relaxation techniques, meditation essential and non-essential. A complete protein is one that contains all the nine indispensable
amino acids, namely, histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine,
tryptophan and valine.
Psychosocial health promotion Protein in animal products (fish, meat and milk) is of high quality and that in vegetable products
is lower because of a limited supply of lysine (in cereals) and methionine and cysteine (in
There is a tendency for health goals and targets to focus mainly on physical illness and Page 39 legumes).12 Vegetarian diets are usually adequate in protein, especially if the combining
not emphasise mental health. However, this area represents an enormous opportunity for vegetable groups complement each other in basic amino acid groups. Diets that exclude all
anticipatory guidance. It includes the important problems of stress and anxiety, chronic pain, animal products may be inadequate, especially in children. Infants and children require 2–2.2 g
depression, crisis and bereavement, sexual problems, adolescent problems, bullying, domestic protein/kg/day.
abuse, child behavioural problems, psychotic disorders and several other psychosocial problems.
High protein content foods—lean beef and lamb, chicken, fish, eggs, milk, cheese, soy beans
Time spent in counselling, giving advice and stressing ways of coping with potential problems
such as suicide and deterioration in relationships is rewarding. GPs need to pay more attention to Medium protein content foods—bread, spaghetti, corn, potatoes (cooked), rice (cooked),
promoting health in this area, which at times can be quite complex. cabbage, cauliflower

Nutrition for health Energy malnutrition

This is a deficiency syndrome with a reduction in all macronutrients, energy (kilojoules) and skin changes
many micronutrients due to an inadequate intake of protein and energy foodstuffs.
Caused by a diet low in protein with some carbohydrate, leading to hypoalbuminaemia.
It is commonly found in infants and children in developing countries but can occur in persons of
any age in any country.
Carbohydrates
Clinically, protein-energy malnutrition has three forms:
Dietary carbohydrates include simple sugars, complex carbohydrates (starches) and indigestible
1. dry (thin, desiccated)—marasmus carbohydrate (dietary fibre). Carbohydrates are the main source of dietary energy. The two most
important crops feeding the world are rice and wheat, which are rich in starch. Starch and
2. wet (oedematous, swollen)—kwashiorkor sucrose account for the majority of carbohydrates consumed in all diets. Carbohydrates that are
available in food are:
3. combined—marasmic kwashiorkor
sugars—sucrose, lactose, maltose, glucose, fructose
Marasmus
polyols—sorbitol, xylitol, maltitol, lactitol
Clinical features:
starch—amylose, amylopectin
grossly underweight
dextrose
gross muscle wasting
As long as adequate energy and protein are provided in the diet, there is no specific requirement
abdominal distension Page 40 for dietary carbohydrate. A small amount—100 g/day—is necessary to prevent ketosis.12

no fat
The glycaemic index (GI)
hungry
The GI, which applies to carbohydrate foods, is a numerical index based on a reference point of
‘old man’s’ face 100. It is a measure of the capacity to increase postprandial glucose levels compared to a glucose
load. The standard food is glucose, which is given an arbitrary level of 100.
no oedema
The higher the GI, then the higher the rise in blood glucose level and thus the greater the insulin
normal hair response. Low-GI foods may improve glycaemic control.

Caused by a diet low in protein and calories. Low-GI foods (<55) include dense wholegrain breads, porridge, most fresh fruits, yoghurt and
low-fat milk. High-GI foods (>70) include sweet breakfast cereals, potatoes, white bread,
Kwashiorkor watermelon, ripe bananas, dates, white rice and biscuits.

Clinical features:
Fat
oedema (feet first, then generalised)
Dietary fat, which is composed mainly of fatty acids and dietary cholesterol, is the most
‘moon’ face concentrated source of food energy.11
anorexia Fatty acids are classified according to the number of unsaturated double bonds:
hair pale and thinned nil—saturated (e.g. butyric and stearic acids)
apathetic one—monounsaturated (e.g. oleic acid)
 more than one—polyunsaturated (e.g. linoleic acid, eicosapentanoic acid [EPA],
docosahexanoic acid [DHA])
Polyunsaturated fatty acids (two or more unsaturated bonds) can be subdivided into:
n-6 (e.g. linoleic acid, 2 unsaturated bonds; arachidonic acid, 4 unsaturated bonds)
n-3—omega-3 fatty acids (e.g. alpha-linolenic acid, 3 unsaturated bonds; EPA, 5 unsaturated
bonds; DHA, 6 unsaturated bonds)
The n-3 and n-6 polyunsaturated fatty acids with chain lengths of 18 or more are called essential
fatty acids because they are required for vital body functions and animals, including humans, are
unable to synthesise them.11
The proportions of saturated, monounsaturated and polyunsaturated fatty acids in the diet are
important determinants of health and disease.11 The current strategy is to reduce total fat intake
and reduce saturated fats and increase unsaturated fats, especially n-3 polyunsaturated fats.
Fish oil contains omega-3 fatty acids (EPA and DHA), which are considered more potent than
the omega-3 fatty acids found in plants. The value of omega-3 fatty acids in preventing
cardiovascular mortality has been well proven. They have no effect on cholesterol levels but
have a well-documented potent hypotriglyceridaemic effect.13
Omega-3 rich foods include salmon, trout, halibut and tuna. Suitable plants include avocado,
walnuts, other nuts and seeds, and legumes (beans and lentils). Our diet should include these fats.
Trans fats, which are unsaturated fats usually generated industrially by a hydrogenation process,
should be avoided.
Cholesterol, which is a major constituent of cell membranes, is synthesised by the body and is
not an essential nutrient. The plasma cholesterol level, and hence the amount of cholesterol in the
diet, has been related to the development of atherosclerosis.
Nutritional assessment
The first step in nutritional assessment is to identify the high-risk patient.14 Those at Page 41
high risk of nutritional insufficiency include those with a history of obesity, eating disorders,
chronic illness, psychological disorders, the elderly, the institutionalised, trauma victims and
those with long periods of hospitalisation, including major surgery. Of particular interest is the
rate of growth and development in infants and children and the body composition in children and
adults.
When taking the history it is appropriate to include a 24-hour recall of foods eaten and ideally
get the patient to complete a symptom questionnaire that can then be linked to a computerised
nutritional evaluation program, such as Nutricheck.14 Evaluate sunlight exposure.
A nutritionally focused physical examination should be performed on each patient at risk, with
the emphasis on body weight, waist size, muscle wasting, fat stores and signs of micronutrient
deficiencies. Examples of the latter include zinc deficiency, which affects taste, smell and the
skin. Deficiencies of vitamins B6 and B12 cause neurological disorders, such as peripheral
neuropathy.11 Alcoholism and malnutrition affect many systems, including the gastrointestinal
system. The oral cavity, especially the gums, teeth and buccal mucosa, are affected by vitamin B
complex and vitamin C deficiencies. Bones and joints are affected in scurvy, rickets,
osteomalacia and osteoporosis. The important anthropometric measurements include height and
weight, skinfold thickness and waist:hip circumference ratio (refer to CHAPTER 67 ).
Laboratory investigations depend on the clinical examination and should be selective.
The general principles of optimal nutrition
In order to help people make healthy choices, the health foundations of several countries have
developed recommendations for eating a healthy diet.
The heart-healthy eating pyramid of the Australian Nutrition Foundation (2012)11 has a
simplified system, namely:
Eat most—vegetables, dried peas, beans and lentils, cereals, bread, fruit and nuts
Eat moderately—healthy protein foods such as lean meat, eggs, fish, chicken (without skin),
milk, yoghurt, cheese
Eat in small amounts—oil, margarine, reduced-fat spreads, butter, sugar and salt, and avoid
trans fats
The RACGP in its red book15 outlines dietary recommendations based on national guidelines.
For adults this is summarised as follows.
Enjoy a wide variety of foods each day:
five serves of vegetables and two serves of fruit
lean meat, fish, poultry, eggs, tofu, nuts and seeds and/or alternatives
grains and cereals, mostly wholegrain or high-fibre varieties such as bread, rice, pasta, oats
and couscous
drink plenty of water
Take care to:
limit saturated fat
limit salt intake
limit alcohol intake
 limit sugars and foods containing added sugars, including soft drinks and commercial juice Ubiquinone—meats, fish, peanuts

limit red meat to 3–4 serves per week and limit or avoid processed meat Phytochemicals—soy, tea, green tea, herbs, apples, onions, cocoa

care for food: prepare and store it safely

Folate-containing foods
encourage and support breastfeeding
Green leafy vegetables—broccoli, spinach
See CHAPTER 80 for further detail on the dietary management of a person who wants to lose
weight. Wheat grain

Wholegrain cereals
Antioxidants
Starchy beans—kidney and butter
The antioxidant issue is still controversial and unclear. Empirical observation of healthy Peas, corn, cauliflower
communities over the years indicates good health outcomes, especially with cardiovascular
status, in people having an optimal diet containing high levels of vitamins and minerals Nuts
(especially from fruit and vegetables).
Avocado
Food antioxidants (see TABLE 5.4 ) appear to protect against free radicals, which can suppress
immunity.16 Liver

Folic acid fortified foods (e.g. breakfast cereals)

Table 5.4 Food antioxidants
Vitamin deficiency disorders18
Vitamin A, especially beta-carotene
Vitamin C These are rare in our society but can occur sporadically and are not rare in children in some third
Vitamin E world countries or in refugees from these countries. Deficiencies tend to be seen as a specific
disorder or as a multivitamin effect.
Ubidecarenone (co-enzyme Q10)
Selenium, zinc, manganese and copper (nutrient cofactors) Vitamin A (beta-carotene/retinol) deficiency causes night blindness and eye disease, as well as
dryness with keratinisation of the conjunctivae and cornea. It causes growth retardation in
children. Toxicity from overdosage of vitamin A is a serious problem.
Source: Sali16
Vitamin B complex
Prime sources of antioxidants in food17 Vitamin B1 (thiamine) deficiency causes beriberi (dry or wet), heart failure, neuropathy
Vitamin C—citrus fruits, berries, papaya, green leafy vegetables and also Wernicke–Korsakoff syndrome (typically in alcoholics).

Vitamin E—seed-like cereal grains, nuts and oils (plants), eggs
Beta-carotene—orange-coloured and dark-green leafy vegetables
Selenium—grains, meats, Brazil nuts, fish
Page 42
Vitamin B2 (riboflavin) deficiency causes growth retardation, dry scaly skin and angular
cheilitis.
Vitamin B3 (niacin, nicotinic acid) deficiency causes pellagra, the classic ‘d’ triad—
diarrhoea, dementia, dermatitis ± neuropathy.

Copper—cocoa, wheat bran, yeast Vitamin B6 (pyridoxine) deficiency may cause oral soreness, anaemia and CNS
dysfunction.
 Vitamin B12 (cobalamin) deficiency causes pernicious anaemia, neuropathy, glossitis and
memory dysfunction.
Vitamin C (ascorbic acid) deficiency is responsible for scurvy. Clinical features: muscle
weakness, malaise, fatigue, bleeding swollen inflamed gums, atraumatic haemarthrosis,
cachexia, oedema, impaired wound healing, impaired bone growth. One sign is the
hyperkeratotic hair follicle with surrounding hyperaemia. Diagnosis by decreased plasma
ascorbic acid and X-rays of bones and joints.
Vitamin D (calciferol) deficiency causes rickets in children and osteomalacia in adults.
Clinical features (rickets): impaired growth, skeletal deformities (bow legs, pelvis, ‘rachitic
rosary’), inability to walk, bone pain (arms, legs, spine, pelvis), dental deformities, muscle
weakness. In adults: muscle weakness, bone pain, bowing of long bones. Diagnosis: low
plasma 25(OH)D3 and phosphate; elevated PTH and alkaline phosphatase; X-rays of joints
and long bones of leg.
Vitamin E (tocopherol) deficiency causes no specific disease but may result in vague,
undifferentiated symptoms and anaemia.
Vitamin K (phylloquinone) deficiency is rare and can lead to an increased bleeding tendency.
Folic acid deficiency is responsible for pernicious anaemia and neural tube defects in the
fetus.
Anaemia and iron
Iron-deficiency anaemia is a common problem in our society, particularly in children from 6
months to 2 years who have been given a lot of cow’s milk. In such cases it is important to
educate people about iron-rich foods and the quantities they need (see CHAPTER 13 ).
Guidelines for safe consumption of alcohol
(current NHMRC recommendations)19
Healthy males and females
No more than ten standard drinks per week
No more than four standard drinks on any single occasion, then don’t drink at all for 2–3 other
days
Young people
People aged under 18 years should not drink alcohol
Pregnancy and breastfeeding
No alcohol is the safest option
Refer to CHAPTERS 12 and 100 for alcohol guidelines.
Iodine deficiency
The body needs small amounts of iodine to maintain normal function of the thyroid Page 43
gland—crucial for normal growth and development. In iodine-deficient areas (in soil and water)
there is a high rate of stillbirths, congenital hypothyroidism and cretinism. In adults, deficiency
causes goitre and hypothyroidism. The usual intake of iodine in healthy persons is 100–200
mcg/day, mostly from iodised salt. An adequate intake is 150 mcg/day with higher requirements
for pregnancy (220 mcg) and breastfeeding (290 mcg).20
Australian dietary guidelines19
(See: www.nhmrc.gov.au)
1. To achieve and maintain a healthy weight, be physically active and choose amounts of
nutritious food and drinks to meet your energy needs
2. Enjoy a wide variety of nutritious foods from these five groups every day
plenty of vegetables, including different types and colours, and legumes/beans
fruits
grain (cereal) foods, mostly wholegrain and/or high cereal fibre varieties, such as breads,
cereals, rice, pasta, noodles, polenta, oats, quinoa and barley
lean meat and poultry, fish, eggs, tofu, nuts and seeds, and legumes/beans
milk, yoghurt, cheese and/or alternatives, mostly reduced fat (reduced fat and milk not
suitable for children <2 years)
drink plenty of water
3. Limit intake of foods containing saturated fat, added salt, added sugars and alcohol
limit intake of foods high in saturated fat, such as many biscuits, cakes, pastries, pies,
processed meats, commercial burgers, pizza, fried foods, potato chips, crisps and other
savoury fats (e.g. butter, cream, cooking margarine, coconut and palm oil) with foods that
contain predominantly polyunsaturated and monounsaturated fats, e.g. oils, nut butters/pastes
and avocado (low fat diets are unsuitable for children <2 years)
limit intake of food and drinks containing added salt; do not add salt to foods in cooking or at
 the table
limit intake of food and drinks containing added sugar, such as confectionery, sugar-
sweetened soft drinks and cordials, fruit drinks, vitamin waters, and energy and sports drinks
if you choose to drink alcohol, limit intake and follow NHMRC guidelines
4. Encourage, support and promote breastfeeding
5. Care for your food, and prepare and store it safely
Summary of general dietary guidelines for good health
Keep to an ideal weight (BMI: adults 20–25).
Eat a high-fibre diet.
Eat more fruits and vegetables, least-processed breads and cereals, preferably
wholegrain.
Eat fish at least twice a week (daily if possible).
Choose a nutritious diet.
Eat less saturated fat, refined sugar and salt.
Use low-fat dairy products—milk and yoghurt.
Avoid fast foods and deep-fried foods.
Do not eat animal meat every day, and then only in small portions. Note that
processed meats, such as sausages, have a very high fat content.
Use monounsaturated (olive) oils and perhaps margarine instead of butter.
Use olive oil for cooking rather than polyunsaturated oils.
Always trim fat off meat.
Limit alcohol intake to 10 standard drinks per week.
Drink more water.
Limit salt intake; pepper is okay.
Limit caffeine intake (0–3 drinks a day maximum).
Check plasma cholesterol level and, if it is elevated, aim to reduce it with diet.
The appropriate diet is a low-carbohydrate, healthy-fat, Mediterranean-based diet.
Patient education resources
Evidence has shown that intervention by GPs can have a significant effect on patients’ attitudes
to a change to a healthier lifestyle. If we are to have an impact on improving the health of the
community, we must encourage our patients to take responsibility for their own health and thus
change to a healthier lifestyle. They must be supported, however, by a caring doctor who follows
the same guidelines and maintains a continuing interest. Examples include modifying diet,
nutrition, cessation of smoking, reduction of alcohol intake, undertaking exercise, depression and
anxiety.
Patient education materials have been shown to have a beneficial effect. Giving patients Page 44
a hand-out about tetanus increased the rate of immunisation against tetanus among
adults threefold.7 An education booklet on back pain for patients reduced the number of
consultations made by patients over the following year and 84% said that they found it useful.8
Providing systematic patient education on cough significantly changed the behaviour of patients
to follow practice guidelines and did not result in patients delaying consultation when they had a
cough lasting longer than 3 weeks or one with ‘serious’ symptoms.9
One form of patient education is giving hand-outs (either prepared or printed from a computer at
the time of the consultation) to the patient as an adjunct to the verbal explanation which, it must
be emphasised, is more important than the printed hand-out.
Murtagh’s Patient Education 8th edition:
Diet guidelines for good health
Resource
American Society for Nutrition. Available from: https://nutrition.org.
References
1 Lalonde, M. A New Perspective for Health of Canadians. A Working Document. Ottawa:
Government of Canada, 1974.
2 Australian Long Term National Health Plan. The Department of Health. Canberra,
November 2019. nphs@health.gov.au
3 Stott N, Davis R. The exceptional potential in each primary care consultation. J R Coll
Gen Pract, 1979; 29: 201–5.
4 Sales M. Health promotion and prevention. Aust Fam Physician, 1989; 18: 18–21.
5 Health Targets and Implementation (Health for All) Committee. Health for All
Australians. Canberra: AGPS, 1988.
6 Harris M. SNAP. A Population Guide to Behavioural Risk Factors in General Practice.
South Melbourne: RACGP, 2004.
7 Cates CJ. A handout about tetanus immunisation: influence on immunisation rate in
general practice. BMJ, 1990; 300(6727): 789–90.
8 Roland M, Dixon M. Randomised controlled trial of an educational booklet for patients
presenting with back pain in general practice. J R Coll Gen Pract, 1989; 39(323): 244–6.
9 Rutten G, Van Eijk J, Beek M, Van der Velden H. Patient education about cough: effect on
the consulting behaviour of general practice patients. Br J Gen Pract, 1991; 41(348): 289–
92.
10 Porter RS, Kaplan JL. The Merck Manual of Diagnoses and Therapy (19th edn). New
Jersey: Merck Research Laboratories, 2011: 2–7.
11 Wahlqvist ML. Food and Nutrition. Sydney: Allen & Unwin, 1997.
12 Crimmins B. Nutrition. Check Program 391. Melbourne: RACGP, 2004; 391: 1–30.
13 Howe P. Nutrition and cardiovascular risk. Medical Observer, 2001; 16 November: 36–7.
14 Sydney-Smith M. Nutritional assessment. Current Therapeutics, 2000; September: 13–22.
15 Royal Australian College of General Practitioners. Clinical Guidelines for Preventive
Activities in General Practice (8th edn). Melbourne: RACGP, 2013: 45–7.
16 Sali A. Strategies for cancer prevention. Aust Fam Physician, 1987; 16: 1603–13.
17 Wahlqvist ML, Wattanapenpaiboon N. Antioxidant nutrients. Australian Prescriber, 1999;
22(6): 142–4.
18 Truswell AS. Nutrient supplements. How to treat. Australian Doctor, 2003; 21 March: I–
VII.
19 National Health and Medical Research Council. Australian Dietary Guidelines. Canberra:
Department of Health and Ageing, 2013.
20 Porter RS, Kaplan JL. The Merck Manual of Diagnosis and Therapy (19th edn). New
Jersey: Merck Research Laboratories, 2011: 53.
Page 45
6 Prevention in general practice
When meditating over a disease, I never think of finding a remedy for it, but, instead, a means of
preventing it.
LOUIS PASTEUR 1884
Definitions1
Prevention may be defined as the means of promoting and maintaining health or averting illness.
It is concerned with removal or reduction of risks; early diagnosis; early treatment; limitation of
complications, including those of iatrogenic origin; and maximum adaptation to disability.
The promotion of health concerns helping well people to learn healthy behaviours and to accept
responsibility for their own well-being.
A preventive attitude implies that the doctor understands and can utilise the preventive potential
in each primary care consultation by an ‘opportunistic approach’. In addition to the traditional
management of both presenting and continuing problems, the doctor takes the opportunity to
modify the patient’s health-seeking behaviour, to provide education about the illness and to
promote health by relating the patient’s present condition to previous unhealthy behaviour.
A general reference for prevention is the RACGP red book—Guidelines for Preventive Activities
in General Practice (9th edn). See: https://www.racgp.org.au/clinical-resources/clinical-
guidelines/key-racgp-guidelines/.
Primary prevention
Primary prevention includes action taken to avert the occurrence of disease. As a result there is
no disease. Primary preventive strategies include:
1. education to bring about changes in lifestyle factors known to be associated with diseases (e.g.
smoking cessation, healthy balanced diets, reduction in alcohol intake, exercise)
2. sterilisation of surgical instruments and other medical equipment
3. eradication, as with vector control of mosquitoes to prevent malaria

4. immunisation against infective diseases

5. sanitation, keeping our water supplies clean and disposing efficiently of sewage and industrial
wastes

6. legislation to ensure that some of these primary preventive measures are carried out

Secondary prevention
Secondary prevention includes actions taken to stop or delay the progression of disease.

The term is usually applied to measures for the detection of disease at its earliest stage, i.e. in the
presymptomatic phase, so that treatment can be started before irreversible pathology is present.
The early recognition of hypertension through routine testing (screening) of patients allows
treatment during the presymptomatic phase of the illness process. Screening for cervical cancer
allows the treatment of cervical dysplasia, a premalignant condition. Other examples include
mammography and endoscopy for polyps of the large bowel.

Tertiary prevention
Tertiary prevention includes the management of established disease so as to minimise disability.
The term is usually applied to the rehabilitation process necessary to restore the patient to the
best level of adaptation possible when there has been damage of an irreversible nature. A patient
who has suffered a stroke because of hypertension may be restored to a useful lifestyle with
appropriate rehabilitation.
Relationship between types of prevention
It can be seen that there is a clearer demarcation between primary and secondary prevention than
between secondary and tertiary prevention, although the latter term is particularly useful in
dealing with the elderly and the handicapped. Conceptually, curative medicine falls within the
definitions of secondary and tertiary prevention while public health measures are mainly
concerned with primary prevention. Prevention is really wider than medical practice but because
of the success of public health practices in the past, more attention is now being focused on
prevention by doctors (see FIG. 6.1 ).2
FIGURE 6.1 The phases of prevention in relation to the natural history of
disease
As GPs our role in prevention is twofold. Page 46
1. First, we can recognise the preventable factors that are involved in an illness process and
determine appropriate interventions.
2. Second, we can act to implement the preventive measure. In cases where the responsibility
rests with the individual or the community, doctors can support prevention through education,
applying political pressure or working with community agencies.
The practice of preventive medicine
What is preventable?
The first step in the implementation of prevention is to define which specific diseases can be
prevented and to what extent, given certain restraints such as human resources, technology and
the cost to the community. All diseases have a potential preventability but it may be unrealistic
to try to achieve this.

Diseases that can be prevented can be grouped according to their aetiology. They fall into the
following broad categories:

genetic disorders
 conditions occurring during pregnancy and the puerperium 4. interventional care—immunisation, behaviour modification and drug prophylaxis Page 47

developmental disorders 5. rehabilitation

accidents
Optimal opportunities for prevention
infections
Primary prevention par excellence can be practised in general practice under the opportunities
addictions provided by the following clinical circumstances:
behavioural disorders antenatal care
occupational disorders postnatal care
premature vascular disease advising people travelling overseas
neoplasms visits by infants with their parents
handicap in the disabled times of crisis or potential crisis
certain ‘other’ diseases (e.g. diverticular disease) pregnancy planning
Mortality is the only reliable index by which the outcome of preventive activities can be judged. The Royal College of General Practitioners (UK) has identified the seven most important
Conditions can be ranked in importance as causes of premature death according to the ‘years of opportunities for prevention as:
potential life lost before 78 years [of age]’ as follows:1
1. family planning
Accidents, poisoning, suicide and violence
2. antenatal care
Neoplasms
3. immunisation
Circulatory diseases
4. fostering the bonds between mother and child
Perinatal conditions
5. discouragement of smoking
Congenital conditions
6. detection and management of raised blood pressure
Alzheimer disease
7. helping the bereaved
This gives quite a different perspective to prevention and explains why the efforts of public
health authorities and practising doctors do not always coincide.
Mortality and morbidity considerations
The interventions available to us in medical practice are as follows:
An understanding of the mortality and morbidity patterns in the modern human being is essential
1. educational—health promotion, health education and illness education to the planning of preventive programs. The great infectious diseases of the past, such as
tuberculosis, syphilis, smallpox, influenza, diphtheria and streptococcal infections, have been
2. screening largely contained but other diseases have become prominent as life expectancy increases. The
great modern diseases are atherosclerosis (hardening of the arteries), malignant disease (cancer),
3. surveillance
HIV infection and iatrogenesis (doctor-induced illness). The two most common causes of death
in Australia are cancer and cardiovascular disease, each accounting for approximately 20% of all
deaths.3 two decades up to 20124

By comparison, the 10 leading causes of death in the world are (in order): ischaemic heart Improvements Deterioration
disease; stroke; COPD; lower respiratory tract infection; neonatal conditions; trachea, bronchus
Overall mortality Alcohol-related diseases
and lung cancers; Alzheimer disease and dementia; diarrhoeal diseases; diabetes mellitus; and
kidney disease (WHO: Fact sheet: The top 10 causes of death; December 2020). Heart disease Drug abuse
Stroke Dementia
These diseases and the common causes of mortality (see TABLE 6.1 ) act as a focus for our
energies in addressing preventive programs. Smoking Depression, mental health
Road safety Health inequalities
Table 6.1 Common causes of deaths in Australia Diseases controlled by immunisation Obesity
in 2019 (in rank order) Dental health Diabetes
Cancer, overall especially Arthritis/musculoskeletal problems
1 Ischaemic heart disease
cervix Fall injuries
2 Dementia/Alzheimer disease
3 Cerebrovascular disease stomach Environmental pollution problems
4 Tracheal, bronchial and lung cancer
5 Chronic lower respiratory disease breast
6 Colorectal cancer testis
7 Diabetes mellitus
8 Blood and lymph cancer colorectal
9 Influenza and pneumonia Pregnancy complications
10 Diseases of the urinary system Congenital abnormalities
11 Heart failure
HIV/AIDS
12 Prostate cancer
13 Suicide, intentional self-harm
*Cancer is the no. 1 cause if grouped together
A global strategy for good health
Source: Australia’s leading causes of death. Causes of death, Australia, 2019. Australian Bureau of Statistics. Available from:
https://www.abs.gov.au/statistics/health/causes-death/causes-death-australia/latest-release#australia-s-leading-causes-of-death-2019
The World Health Organization (WHO) defines good health as ‘a state of dynamic harmony
between the body, mind and spirit of a person and the social and cultural influences which make
It is worth focusing on the changes in disease indices during the past generation in order to up his or her environment’.
evaluate the effect of preventive and health promotion programs during this period (see
TABLE 6.2 ).3 The messages are to harness and promote with renewed vigour those strategies A considerable amount of epidemiological information has emerged to support what GPs have
that are working, such as prevention of death from coronary artery disease and motor vehicle known for a long time—that a commonsense, healthy lifestyle not only promotes good health but
accidents, and to re-evaluate those important areas, such as Aboriginal mortality, HIV infection, also reduces the risk of the main causes of mortality and morbidity in this country, including
cancer, suicide and asthma, which are bad news! On the positive side, the overall life expectancy cardiovascular disease and cancer.
in Australia has risen to 82.5 years.
The common theme for virtually all disease is to follow the nutrition and lifestyle guidelines
presented in CHAPTER 5 .

Table 6.2 Major changes in public health in Australia, with trends in the Behaviour modification
two decades up to 20124
Lifestyle habits that have developed over many years can be very difficult to change Page 48 blood pressure
even when the individual is well motivated to change. A variety of instructional,
motivational and behavioural techniques can be used to initiate a lifestyle change program; GPs total cholesterol/HDL ratio
should be aware of these and use the resources of a multidisciplinary team to give support to
motivated people who as a rule find behaviour modification difficult. Malignant disease
Vascular disease Primary prevention of cancer is an important objective and there is a need to focus on this vital
factor as much as on secondary prevention.
Risk factors for vascular disease (atherosclerosis) are:
Updated important facts about cancer in Australia*
hypertension
(current and immediate future)
smoking
It continues to be more common in men than women overall; in 2019 more than half (54%) of
high cholesterol all diagnosed cases were expected to be in men.

diabetes Breast cancer (in women) is expected to be the most common type of cancer diagnosed,
followed by colorectal cancer and prostate cancer.*
obesity
The death rate from all cancers has fallen from 209 deaths per 100 000 people in 1982 to an
sedentary lifestyle estimated 161 per 100 000.
stress Survival rates from all cancers have improved substantially, with 5-year survival increasing
from 48% in 1984–1988 to 69% in 2011–2015.
alcohol excess
Survival varied by cancer type, with the largest survival improvements seen in prostate cancer,
poor diet non-Hodgkin lymphoma, kidney cancer and multiple myeloma.
family history Pancreatic cancer and lung cancer showed only small improvements, while bladder cancer and
cancer of the larynx actually had lower survival rates.
The guidelines for good health given in CHAPTER 5 , if followed, will help prevent the
development of cardiovascular and cerebrovascular disease. Lung cancer is likely to be the leading cause of cancer death, followed by colorectal cancer,
prostate cancer, breast cancer in women and pancreatic cancer.
It is worth noting that the death rate from coronary heart disease is about 70% higher for smokers
than for non-smokers, and for very heavy smokers the risk is almost 200% higher. It has been *Excluding basal and squamous cell carcinoma
shown that the incidence of heart disease falls in those who have ceased smoking.
Source: Cancer Council of Australia (www.cancer.org.au/cancer-information); and Australian Institute of Health and Welfare (AIHW), Cancer in
Australia, Cancer series no 101. Cat no. CAN 100. 2019. Canberra.
GPs can estimate the absolute 5-year risks of cardiovascular events in their patients by referring
to the Absolute CVD risk clinical guidelines set out by the Heart Foundation That environmental factors are involved in the aetiology of colorectal cancer and other Page 49
(www.heartfoundation.org.au); see CHAPTER 75 . cancers is indicated by wide variations in incidence between different countries.
The parameters used are: Suspicion falls on diet and there is epidemiological evidence implicating diets high in animal fats
and low in insoluble fibre, fruits and vegetables, and also high alcohol consumption. It is noted
gender and age
that there are higher incidence rates in people migrating from low- to high-risk countries, such as
smoking status Japanese to Hawaii and Greeks and Italians to Australia.5

diabetes status Studies in the US indicate that at least 35% of all cancer deaths are related to diet. Obese
individuals have an increased risk of colon, breast and uterine cancers. High-fat diets are a risk
factor for prostate, breast and colon cancers. Salt-cured, smoked and nitrate-cured foods increase
the risk of upper GIT cancers. Foods rich in vitamin A and folate (dark green and deep yellow
vegetables and fruits) and vitamin C and cruciferous vegetables (cabbage, Brussels sprouts,
broccoli and cauliflower) are all considered to have protective effects for various cancers.6,7
Phytochemicals (plant chemicals) exist in these foods and in other vegetables and fruit that have
a cancer-protective effect.8
Overall, diet, smoking, alcohol and occupational exposures (5%) appear to account for over 73%
of all cancer mortality.7
Doll and Peto9 considered that environmental factors were responsible for 80–90% of cancers
and estimated that diet was a major factor in the cause of cancer in 40% of men and 60% of
women.
The role of immunity in cancer
The development of a number of cancers appears to be related to a depression of the individual’s
immune system, particularly in relation to cellular immunity, in a similar way (albeit on a
different scale) to the effect of HIV infection. Studies have shown that the immune system is
adversely influenced by:10
stress, especially bereavement
depression
In some instances malignancies appear to undergo unpredictable remissions with patients
following an optimal diet, taking antioxidants, changing their lifestyle and practising meditation.
However, an Australian study indicated that the enthusiasm for the value of antioxidants may be
unjustified.11
Diet certainly appears to be a most important factor in the primary prevention of disease. If
immune-deficient diseases can respond in such a way, imagine what a powerful primary
preventive force such a lifestyle represents for all disease.
Asthma and other respiratory diseases
The death rate and morbidity rate for asthma and other respiratory diseases is unacceptable and
much of it can be prevented.12 A report on the cost of asthma claimed that there is evidence that
a significant proportion of diagnosed asthmatics are currently receiving treatment that does not
provide the best possible control of the disease.12
Prevention means being better informed and treating such an ‘irritable’ disease as bronchial
asthma aggressively. It means focusing on better assessment and monitoring (e.g. home use of
the mini peak flow meter), better delivery of medication to the airways (e.g. use of spacers
attached to inhalers and/or use of pumps and nebulisers) and appropriate management of the
cause (inflammation of the bronchial tree) by the use of inhaled corticosteroids or sodium
cromoglycate as the first-line treatment for significant asthma. An appropriate strategy is to
follow the six-step asthma management plan (see TABLE 6.3 ) of the National Asthma
Campaign.

ageing
Table 6.3 The six-step asthma management plan
drugs
1. Establish the severity of the asthma.
pollutants
2. Achieve best lung function.
cigarette smoke 3. Maintain best lung function—identify and avoid trigger factors.
4. Maintain best lung function—follow an optimal medication program.
inappropriate diet
5. Develop a written, accessible action plan.
alcohol 6. Educate and review regularly.

radiation
Source: National Asthma Campaign: Australia, 2008
On the other hand, a protective effect on the immune system may be provided by:
Page 50
The protective effect for asthma and COPD of vitamin C, fish oils, a low-salt diet and
food antioxidants (see TABLE 5.4 in CHAPTER 5 ) other natural antioxidants is highlighted by Sridhar.13
tranquillity
Periodic health examination
meditation
Since 86% of the population visit a GP at some stage of the year,3 and these people visit about
five times each year (on average), GPs are in an ideal position to develop strategies for a periodic
health examination. An emphasis should be placed on the history in addition to the physical
examination and related basic investigations.
As for any smooth-running quality professional program, it is important to be organised with
prepared practice staff, checklists and record systems. The Royal Australian College of General
Practitioners (RACGP) has developed a College Record System, which has several leaflets
covering all approaches to the patient ‘check-up’.14
The following guidelines for the periodic health examination are adapted from those
recommended by the Preventive and Community Medicine Committee of the RACGP.14 This
represents appropriate screening at the front line of primary health care.
Aims of screening
In practice, screening is not only to detect disease in asymptomatic people at its earliest stage in
order to classify them as likely or unlikely to have a disease, but also to find individuals at risk or
those with established disease who are not receiving adequate care. There are three levels at
which screening practice can be applied in general practice:
1. ‘well’ individuals with risk factors that predispose to disease (e.g. obesity, uncomplicated
essential hypertension, hyperlipidaemia)
2. asymptomatic individuals with signs of early disease or illness (e.g. developmental dysplasia
of the hip, ectopic testis, glaucoma, bacteriuria of pregnancy, carcinoma in situ of cervix)
3. symptomatic individuals whose irreversible abnormalities are unreported but the effects can be
controlled or assisted (e.g. visual defects, deafness, mental handicap)
The history14
An appropriate history will allow the recognition of certain risk factors that may foreshadow
future disease. Though established patients will have a previously acquired database, their
history should be reviewed and updated. It is recommended that the following items be included
in history taking in the appropriate age groups.
Family history. In particular, cardiovascular disease, some cancers (breast, bowel, melanoma
with dysplastic naevi), diabetes, asthma, genetic disorders and bowel disease will alert the doctor
to specific risk factors (and psychological factors) for these patients.
Suicide and accidents. Consider the risk factors predisposing to suicide and accidents, which are
the major preventable causes of death in children and young adults.
Substance abuse. Tobacco and alcohol are the major causes of preventable death in adults,
although other drugs contribute to a lesser extent. Counselling by GPs, about smoking in
particular, has been shown to be effective.
Exercise and nutrition. These factors have a role to play in preventing cardiovascular disease and
to a lesser extent in blood pressure control, cancer, diabetes and constipation. They have an even
greater role to play in improving general well-being and preventing morbidity.
Occupational health hazards. Consider these in working adults, as occupational health hazards
can significantly contribute to morbidity and mortality (e.g. exposure to toxic substances, unsafe
work practices). Specific examples include:
coal miners—pneumoconiosis
gold, copper and tin miners—silicosis
asbestos workers and builders—asbestosis, mesothelioma
veterinarians, farmers, abattoir workers—zoonoses
aniline dye workers—bladder cancer
health care providers—hepatitis B
Physical functioning, home conditions and social supports. Consider these in elderly people, as
physical function and social supports are of crucial importance in determining whether they can
care for themselves—intervention can prevent accidents and death.
Sexuality/contraception. Sexually transmitted infections are all preventable, as are unwanted
pregnancies. Opportunities should be sought to ask young people, in particular, about their
sexuality, and to counsel them. The question ‘Do you have any concerns about sex?’ is very
useful in this context.
Osteoporosis. Osteoporosis affects nearly a third of all postmenopausal women, most of Page 51
whom suffer osteoporotic fractures. Fractures of the femoral neck have a particularly
poor prognosis, with up to a third of these women dying within 6 months, and many more
requiring continuing nursing home care. Bone loss accelerates at the time of the menopause, and
can be reduced by hormone replacement therapy.
Women at risk of osteoporosis are short, slim, Caucasian; they drink coffee and alcohol, smoke,
eat a high-protein and high-salt diet, and don’t exercise.
Masquerades in general practice. It is worth considering the ‘masquerades’ (see CHAPTER 9 ,
TABLES 9.4 and 9.5 ), which may present as undifferentiated illness, as a means of following
the important medical principle of early detection of disease: engendering a certain awareness.
Primary masquerades to consider are:
depression
diabetes mellitus
 drug problems
anaemia
thyroid disorders, especially hypothyroidism
urinary tract infection
vertebral (spinal) dysfunction
Hypothyroidism has been estimated to exist in up to 15% of women aged 60 and above, and
searching for clues may elicit subtle symptoms and signs previously attributed to ageing.
Relationships and psychosocial health. Consider the mental health of patients, particularly the
elderly, by enquiring about how they are coping with life, how they are coping financially, about
their peace of mind and how things are at home. Focus on the quality of their close relationships
(e.g. husband–wife, father–son, mother–daughter, employer–employee). Enquire about losses in
their life, especially family bereavements.
Screening for children14
Childhood health record books provide an excellent opportunity for communication between
different health care givers; parents should be provided with the record books and encouraged to
bring them to every visit. Various recommendations for screening are made under the following
headings.
Height/weight/head circumference. Record length/height, weight and head circumference at
regular intervals. Head circumference can be recorded until 2 years and should increase by 1 cm
per month in the first 3 months, then 0.5 cm per month from 3–6 months. It provides further data
about a child’s growth. It is important to check the fontanelles. Calculate the BMI from 2 years.
The adequacy of a child’s growth cannot be assessed on one measurement and serial recordings
on growth charts are recommended.
Hips. Screen for congenital dislocation at birth, 6–8 weeks, 6–9 months and 12–24 months (see
CHAPTER 54 ).
The flexed hips are abducted, checking for movement and a ‘clunk’ of the femoral head forwards
(the test is most likely to be positive at 3–6 weeks and usually negative after 8 weeks).
Shortening or limited abduction is also abnormal. Ultrasound examination is more sensitive than
the clinical examination, especially up to 3–4 months. Observe gait when starting to walk.
Strabismus. Strabismus should be sought in all infants and toddlers by occlusion testing (not very
sensitive), examining light reflexes and questioning parents, which must be taken very seriously.
Amblyopia can be prevented by early recognition and treatment of strabismus by occlusion and
surgery. Early referral is essential.
Visual acuity. At birth and 2 months, eyes should be inspected and examined with an
ophthalmoscope with a 3+ lens at a distance of 20–30 cm to detect cataracts and red reflexes. At
9 months gross vision should be determined by assessing ability to see common objects. Visual
acuity should be formally assessed at school entry using Sheridan Gardiner charts.
Hearing. Hearing should be tested by distraction at 9 months or earlier; also by pure tone
audiometry at 1000 and 4000 hertz when a child is 4 years (preschool entry) and 12 years.
Note: Formal audiological evaluation should be carried out at any time if there is clinical
suspicion or parental concern. No simple screening test is very reliable for sensorineural or
conductive deafness.
Testes. Screen at birth, and 6–8 weeks, 6–9 months and 3 years for absence or maldescent. Those
who have been treated for maldescent have a higher risk of neoplastic development in
adolescence.
Oral health/dental assessment/fluoride. Advise daily fluoride drops or tablets, if water supply is
not fluoridated. Children’s teeth should be checked regularly, particularly if a school dental
service is not available. Advice should be given on sugar consumption, especially night-time
bottles, and tooth cleaning with fluoride toothpaste to prevent plaque.
Scoliosis. Screening of females by the forward flexion test, which is carried out around 12 years
of age, is of questionable value because of poor sensitivity and specificity.
Congenital heart disease. The heart should be auscultated at birth, in the first few days, at 6–8
weeks and on school entry.
Femoral pulses. Testing for absence of femoral pulses or delay between Page 52
brachial/femoral pulses at birth and 8 weeks will exclude coarctation of the aorta. Refer
the child immediately if concerned.
Speech and language. A child’s speech should be intelligible to strangers by 3 years. It is related
to hearing.
General development
Apart from speech and language, check social and emotional development, toilet habits,
behaviour and mood.
This includes ‘parents’ evaluation of developmental status’ (PEDS) (see: www.pedstest.com;
www.rch.org.au/ccch).
For general checklists, see www.cdc.gov/actearly. Be alert to the ‘red flags’ of autism spectrum
disorder (see CHAPTER 87 ).
Screening in the elderly
Refer to CHAPTER 125 .
 risk.
Screening for adults14
Should a positive history be elicited, then the following are recommended:
The following recommendations apply for adults.
past history of large bowel cancer or colonic adenomas—colonoscopy
Weight. Weight should be recorded at least every few years. Obesity is a major reversible health
risk for adults, contributing to many diseases (e.g. heart disease, diabetes, arthritis). Body mass past or present history of ulcerative colitis—colonoscopy with biopsies
index (BMI) should ideally be between 20 and 25.
familial polyposis, Gardner syndrome—sigmoidoscopy or colonoscopy

Prophylactic colectomy needs consideration in some individuals.

Abdominal obesity is a major risk factor for adults. The waist:hip circumference ratio is regarded
Apart from FOBT screening, the National Health and Medical Research Council (NHMRC)
as a useful predictor of cardiac disease. Recommended waist:hip ratios are: currently recommends:
males <0.9 for people at moderate risk (family history category 2)—2-yearly FOBT for people age 40–49,
then colonoscopy every 5 years for people age 50–74
females <0.8

Blood pressure. Blood pressure should be recorded at least every 1–2 years on all people 16 for high risk (family history category 3)—2-yearly FOBT for people age 35–44, then
colonoscopy every 5 years for people age 45–74
years and over. There is no dispute that control of blood pressure results in reduced mortality
from cerebrovascular accidents and, to a lesser extent, heart disease, kidney failure and
Refer to the RACGP Guidelines for Preventive Activities in General Practice14 for Page 53
retinopathy.
further information. Genetic testing should be considered in those at risk.
Cholesterol. All adults aged 45 and over should have a 5-yearly estimation of serum cholesterol.
Prostate cancer. Screening is controversial. The RACGP guidelines do not recommend routine
Total cholesterol is adequate for screening purposes. HDL levels give additional information.
screening with DRE, PSA or transabdominal ultrasound. Patients should make their own
The National Heart Foundation recommends keeping cholesterol levels below 4.0 mmol/L. For
decision after being fully informed of the potential benefits, risks and uncertainties of testing.
most, dietary modification is sufficient to achieve these levels; some may require drug treatment.
Doctors should also use their clinical judgment for their individual male patients.
Fasting blood glucose. Screen every 3 years for all patients >40 years of age.
Skin cancer. All patients should be informed regularly about the need for protection of the skin
Cervical cancer. From age 25 (to age 74), women who have ever been sexually active should and eyes from ultraviolet (UV) radiation, using hats, clothing, sunglasses and sunscreens, and
commence cervical screening with a HPV test 2 years after their last Pap test. If negative, this avoiding exposure during peak UV periods (10 am to 3 pm).
can be performed every 5 years. If positive, cervical cytology will be checked with the sample
Skin cancer, which is increasing in incidence, is common in Australia, particularly in more
and follow-up is determined according to the national guidelines. Women aged 70–74 should be
northern areas. Squamous cell carcinoma, and melanoma in particular, may be lethal. Detection
offered a final ‘exit test’ and can cease screening if negative.
and treatment of early lesions prevents mortality and morbidity. Prevention of skin cancer by
Breast cancer. Mammography should be performed at least every 2 years on women aged 50–74 reduction of sun exposure should be taught to all patients.
years. It is not useful for screening prior to age 40 years due to difficulty in discriminating
Oral hygiene/cancer. Patients should be counselled about cessation of smoking and alcohol
malignant lesions from dense tissue. Women aged 40–49 years may also choose to have a
consumption, and dental hygiene should be taught. The oral cavity should be inspected annually
mammogram.14 Mammography must not be used alone to exclude cancer if a lump is palpable.
in patients over the age of 40 years.
Such lesions require a complete appraisal since, even in the best hands, mammography still has a
false-negative rate of at least 10%. Genetic testing should be considered in those at risk. Although oral cancer has a relatively low incidence, premalignant lesions may be detected by
inspection of the oral cavity. Its incidence is highest in elderly people with a history of heavy
Colorectal cancer (CRC). A history should be taken, with specific enquiry as to family history of
smoking or drinking. Poor dental hygiene may result in poor nutrition, particularly among the
adenomas or colorectal cancer, past history of inflammatory bowel disease and rectal bleeding. elderly.
Rectal examination should be performed as part of an examination. Immunochemical faecal
occult blood testing (FOBT) every 2 years is now recommended for screening for people over 50
years (continuing to 74 years) without symptoms and with average or slightly above average
 12–16 years (contact
Cancer screening in summary:14 state authorities)
Pregnant women Influenza, pertussis
Screen for breast, cervical and colorectal cancer.
From 65 years Influenza (yearly), pneumococcal
Routine population-based screening is at this stage of evidence not recommended polysaccharide (23vPPV)
for lung, melanoma, ovarian, prostate and testicular cancers. 70–79 years Herpes zoster

Hib = Haemophilas influenzae type b

Immunisation HPV = human papilloma virus
DTP (triple antigen) = diphtheria, tetanus, pertussis

Note: Aboriginal and Torres Strait Islanders (ATSIP) and other at-risk groups have further recommended immunisations, including influenza,
pneumococcus and hepatitis A.
Children and adolescents should be immunised according to the current NHMRC recommended
standard vaccination schedule (see: www.health.gov.au/health-topics/immunisation).

The NHMRC advises administering intramuscular and subcutaneous vaccines to the anterolateral
Adverse effects of vaccination
thighs for children under 12 months, and to the deltoid region in older children and adults. Do
not postpone immunisation for minor illnesses such as mild URTI. Common adverse effects are irritability, malaise, fever and a local reaction to the injection. There
is a very small risk of anaphylaxis. It is advisable to wait 15–30 minutes for observation after
All adults should receive an adult diphtheria and tetanus (ADT) booster every 10 years. vaccination. Paracetamol is recommended for fever and local pain; however, routine use at the
time of or immediately after vaccination is not recommended.15
All women of child-bearing years should have their rubella antibody status reviewed. During
pregnancy, it is recommended to have the seasonal influenza vaccination any time in the Fever and illness. Children with minor illness (providing the temperature is <38.0°C) Page 54
pregnancy and a pertussis booster in the final trimester. may be vaccinated safely. Otherwise it should be delayed. A simple past febrile
convulsion or pre-existing neurological disease is not a contraindication to pertussis vaccination.
Absolute contraindications include encephalopathy within 7 days of a previous DTP or an
immediate severe or anaphylactic reaction to DTP.
Table 6.4 National Immunisation Program Schedule15 (as from 2018)
The case for vaccines
Age Immunisation
Influenza. The population needs to be immunised against this ever severe and constantly
Birth Hepatitis B mutating endemic infection. Influenza immunisation is recommended on an annual basis for
2 months DTP, Hib, hepatitis B, polio, pneumococcus, persons of all ages with chronic debilitating diseases, especially chronic cardiac, pulmonary,
rotavirus kidney and metabolic diseases, persons over 65 years of age, all Aboriginal and Torres Strait
Islander people over 12 months of age, especially adults over 50 years of age, and persons
4 months DTP, Hib, hepatitis B, polio, pneumococcus, receiving immunosuppressant therapy. Health care personnel may wish to consider it for their
rotavirus own use.
6 months DTP, polio, Hib and hepatitis B
Pneumococcal disease. This should be considered for the same risk groups as influenza vaccine.
12 months Measles/mumps/rubella (MMR), Those at higher risk of fatal pneumococcal infection (e.g. post-splenectomy or Hodgkin
pneumococcus, meningococcal ACWY lymphoma) should receive a booster every 5 years. This is currently provided for all children.
18 months DTP, varicella, measles, mumps, rubella
(MMR), Hib Hepatitis A. Immunisation is recommended for:
4 years DTP, polio certain occupational groups at risk (e.g. health workers, child care workers, sewage workers)
School programs HPV, DTP (adult), meningococcal ACWY,
hepatitis B (if no first course) non-immune homosexual men
 those with chronic liver disease
recipients of blood products
travellers to hepatitis A-endemic areas
FIGURE 6.2 Immunisation of an older child: important continuing preventive
care
Hepatitis B. Immunisation is recommended routinely for all children at birth, 2 months, 4 months
and at either 6 or 12 months, and for individuals of all ages who, through work or lifestyle, may
be exposed to hepatitis B and have been shown to be susceptible. Such groups would include
health care personnel, personnel and residents of institutions, prisoners and prison staff, persons
with frequent and/or close contact with high-risk groups, and persons at increased risk due to
their sexual practices. Household contacts of any of the above groups should be considered for
immunisation. Booster doses are not recommended for immunocompetent people but are
recommended for immunosuppressed individuals. Universal vaccination represents a preventive
step against hepatocellular cancer.
Haemophilus influenzae type b. Hib immunisation is recommended for all children, especially
those in child care. It is ideal to achieve immunity by the age of 18 months and preferably
commencing at 2 months. Risk factors for Hib disease include day care attendance, presence of
ill siblings under 6 years of age in the home and household crowding.
Q fever. People at reasonable risk from Q fever, particularly abattoir workers, should be given
this vaccine, which is virtually 100% effective.
Measles-mumps-rubella. Both females and males should be immunised against measles, mumps
and rubella at the age of 12 months and 18 months using the trivalent vaccine. All non-immune
women who are postpartum or of child-bearing age should be immunised.
Varicella vaccine. This is available and one dose is given at 18 months. Those over 12 years
have a course of two injections.
Meningococcal vaccine. Meningococcal disease is caused by Neisseria meningitides, which has
13 serogroups of which A, B and C account for over 90% of isolated cases, with serogroup B
responsible for most cases. A vaccine against serogroup B is available but is not yet part of the
recommended schedule, as evaluation studies are being assessed. The main vaccine that is
available is a quadrivalent polysaccharide vaccine against serogroups A, C, Y and W125 for use
in individuals over 2 years as a single injection. Universal prevention by immunisation remains
unsatisfactory. It is most useful when a community outbreak due to proven serogroup C occurs.
Rotavirus. A course of two (usually) or three oral live attenuated rotavirus vaccines is given to
children to cover a common cause of childhood gastroenteritis. Inform parents of the risk of
intussusception with the first dose.
Human papillomavirus. A course of two injections is provided by schools to all pupils aged 11–
12 years.
Neonatal screening
Blood from a heel prick at 48–72 hours following birth checks 25 conditions including Page 55
cystic fibrosis, phenylketonuria and hypothyroidism.
Genetic screening
Genetic screening programs are presented in CHAPTER 23 .
Key checkpoints
Leading risk factors contributing to the burden of disease in Australia are
tobacco, hypertension, excess weight/obesity, physical inactivity,
hypercholesterolaemia, alcohol, and low fruit and vegetable consumption.
Studies in the US conclude that a healthy lifestyle consists of not smoking, BMI
<30 kg/m2, five servings of fruit and vegetables a day and about 150 minutes of
exercise each week.
Resource
Australian Government. Australian Institute of Health and Welfare, 3 February 2017, Cat. No. Australian Technical Advisory Group on Immunisation (ATAGI). Australian
OAN 100. 15 Immunisation Handbook. Australian Government Department of Health, Canberra, 2018.
Available from: immunisationhandbook.health.gov.au.
References
1 Silagy C. Prevention in general practice. In: McNeil J et al., eds, A Textbook of Preventive
Medicine. Melbourne: Edward Arnold, 1990: 269–77.

2 Piterman L, Sommer SJ. Preventive Care. Melbourne: Monash University, Department of

Community Medicine, Final Year Handbook, 1993: 75–85.

3 Australia’s leading causes of death, 2019. Causes of Death, Australia, 2019. Australian
Bureau of Statistics. Available from: https://www.abs.gov.au/statistics/health/causes-
death/causes-death-australia/latest-release#australia-s-leading-causes-of-death-2019,
accessed February 2021.

4 Egger G, Spark R, Donovan L. Health Promotion Strategies and Method. Sydney,

McGraw-Hill, 2013: 8.

5 Locke FB, King H. Cancer mortality risk among Japanese in the United States. National
Cancer Institute, 1980; 65: 1149.

6 Potter JD, McMichael AJ. Diet and cancer of the colon and rectum: a case control study.
National Cancer Institute, 1986; 76: 557–69.

7 Rakel RE, Rakel D. Textbook of Family Medicine (9th edn). Philadelphia:

Elsevier/Saunders, 2016: 87–105.

8 Editorial. Position of the American Dietetic Association: photochemicals and functional

foods. J Am Diet Assoc, 1993; 93: 493–6.

9 Doll R, Peto R. The Causes of Cancer. New York: Oxford University Press, 1981: 1197–
219.

10 Sali A. Strategies for cancer prevention. Aust Fam Physician, 1987; 16: 1603–13.

11 Bury R. Clinical Application of Antioxidant Nutrients. Melbourne: Department of Human

Services, 1996; 26.

12 Antic R. Report on the Cost of Asthma in Australia. Melbourne: National Asthma

Campaign, 1992: 14–33.

13 Sridhar MK. Editorial. Nutrition and lung health. BMJ, 1995; 310: 75–6.

14 Royal Australian College of General Practitioners. Guidelines for Preventive Activities in

General Practice (9th edn).
 Page 56
7 Research and evidence-based
medicine
Not the possession of truth, but the effort of struggling to attain it brings joy to the researcher.
GOTTHOLD LASSING (1729–1781)
Effective research is the trademark of the medical profession. When confronted with the great
responsibility of understanding and treating human beings, we need as much scientific evidence
as possible to render our decision making valid, credible and justifiable.
Research can be defined as ‘a systematic method in which the truth of evidence is based on
observing and testing the soundness of conclusions according to consistent rules’1 or, to put it
more simply, ‘research is organised curiosity’,2 the end point being new and improved
knowledge.
In the medical context the term ‘research’ tends to conjecture bench-type laboratory research.
However, the discipline of general practice provides a fertile research area in which to evaluate
the morbidity patterns and the nature of common problems in addition to the processes specific
to primary health care.
There has been an excellent tradition of research conducted by GPs. Tim Murrell in his paper
‘Nineteenth century masters of general practice’3 describes the contributions of Edward Jenner,
Caleb Parry, John Snow, Robert Koch and James MacKenzie, and notes that ‘among the
characteristics they shared was their capacity to observe and record natural phenomena, breaking
new frontiers of discovery in medicine using an ecological paradigm’.
This tradition was carried into the 20th century by Australian GPs such as Clifford Jungfer, Alan
Chancellor, Charles Bridges-Webb, Kevin Cullen and Trevor Beard,4 and now the research
activities of the new generation of GPs, academic-based or practice-based, have been taken to a
higher level with the development of evidence-based medicine (EBM).
Based on the work of the Cochrane Collaboration and the initiatives of Chris Silagy, Paul
Glasziou and Chris Del Mar in particular, research has moved from the relatively ‘pure’ hospital
environment to ‘real world’ scenarios which better reflect the circumstances of patients living in
the community. Plenty of interventions which seem to work well in sponsored clinical trials are
less impressive when measured in general practice. Some other interventions such as lifestyle
management turn out to be surprisingly effective once they are accurately measured.
The focus of EBM has been to improve health care and health economics. Its development has
gone hand in hand with improved information technology. EBM is inextricably linked to
research.
The aim of this chapter is to present a brief overview of research and EBM and, in particular, to
encourage GPs, either singly or collectively, to undertake research—simple or sophisticated—
and also to publish their work. The benefits of such are well outlined in John Howie’s classic text
Research in General Practice.5
Why do research?
The basic objective of research is to acquire new knowledge and to justify decision making in
medical practice. Research provides a basis for the acquisition of many skills, particularly those
of critical thinking and scientific methodology. The discipline of general practice is special to us
with its core content of continuing, comprehensive, community-based primary care, family care,
domiciliary care, whole-person care and preventive care. To achieve credibility and parity with
our specialist colleagues, we need to research this area with appropriate methodology and to
define the discipline clearly. There is no area of medicine that involves such a diverse range and
quantity of decisions each day as general practice, and therefore patient management needs as
much evidence-based rigour as possible.
Our own patch, be it an isolated rural practice or an industrial suburban practice, has its own
micro-epidemiological fascination. Thus, it provides a unique opportunity to find answers to
questions and make observations about that particular community.
Increasingly, GPs are expected to be able to sift through mountains of information in Page 57
order to reliably offer advice about how the evidence applies to the individual sitting in
front of them. Much of the information available to patients and doctors is either dubious opinion
or skewed towards the interests of an entity providing the intervention, rather than to the patient.
An understanding of how research is produced provides a basis for the ability to critically
appraise medical evidence.
There are also personal reasons to undertake research. The process assists professional
development, encourages clear and critical thinking, improves knowledge and offers the
satisfaction of developing new skills and opening horizons.
The author undertook many small studies on common, everyday problems during 10 years in
country practice to determine the most effective treatments for which no or minimal evidence in
the literature could be found. Many of these recommendations—for problems such as tennis
elbow, cold sores, aphthous ulcers, ingrown toenails, hiccoughs, back pain, nightmares,
temporomandibular dysfunction and warts—appear in this text. Although the numbers were
relatively small, it was useful to compare treatments for about 10 or 20 cases to test hypotheses
and allow trends to emerge. Subsequent results from a large controlled trial would, of course,
take precedence over these recommendations if they differed. However, the exercise, albeit Does the provision of patient information leaflets for the management of hypertension lead to
limited, added immense interest to one’s practice, which at times can be tedious without such better adherence?
scholarly challenges.

An important reason to undertake research is to conform with quality assurance processes that
are now being expected of practitioners. The significant processes evaluating our accountability
for quality control include audits of our own records, studies of critical incidents and morbidity
studies.
Who should do research?
Any GP searching for answers to questions and who has the opportunity should undertake
research. Research is largely opportunistic; for some it may be an impulsive reaction to a
fascinating observation, for others a carefully conceived plan.
The research question should be answerable, and that answer, whether positive or negative,
should be useful to patients.
Research can be collaborative, and in fact a group practice is an excellent way to get started.
Ideally, start with the ‘apprentice’ model, where one’s first attempt is a collaboration alongside a
more experienced researcher.
Many GPs who have started ‘small’ have progressed to great heights of research activity,
especially if they enjoy analysing the raw data once it has been produced. In the process of
posing questions and eventually finding the answers, they frequently refer to the experience as
‘good fun’.
The Royal Australian College of General Practitioners (RACGP) promotes and supports general
practice research (visit: www.racgp.org.au/support/research or email: research@racgp.org.au).
Research on what?
General practice has its own unique characteristics including illness content, processes,
epidemiology, health services, quality assurance and doctor–patient relationships. The special
contact with patients provides opportunities to evaluate their perspectives on health service
delivery, psychosocial issues and communication skills. The old saying ‘dig where you are’ is
relevant to all of us. GPs invariably develop their own special interests and this is a logical area
in which to conduct research. Conducting a morbidity and prescribing survey in a practice is a
simple and fascinating study. If the results are added to a wider study, invaluable information
about the nature of general practice is obtained.5,6
The World Organization of National Colleges and Assemblies of General Practice (WONCA)
produced the first International Classification of Primary Care (ICPC) in 1987, since ratified by
the WHO. This classification of presenting symptoms, diagnoses and treatments has greatly
assisted the process of morbidity studies.7
Research in general practice obviously covers many clinical areas studied by other groups but we
may ask different types of questions, study different populations and use different
methodologies, especially qualitative methods.
It would be logical to conduct research on those common problems requiring continuing care by
the GP. These include:
alcohol problems
anxiety and depression

Asking questions arthritis Page 58

chronic back pain and neck pain

We often ask questions during the course of managing patients and such questions can form the
basis of a research project, however simple. cancer
Typical questions might be:
cardiovascular disorders
Is suicide or attempted suicide in adolescent males precipitated by sexual-orientation issues?
diabetes
Is recurrent migraine caused by cervical dysfunction?
epilepsy
Should we use antibiotics to treat otitis media in children presenting in general practice?
common acute infections
Does the distribution of leaflets by the receptionist in the waiting room lead to increased
migraine and other headache
immunisation rates or cervical smears?
women’s health
Are my patients satisfied with the services they receive?
Special opportunities, such as the observation that certain diseases or conditions are linked with
specific circumstances, present frequently in primary care. An example is the observation that a
group of farmers who presented to their rural practitioner over a period of time with
lymphosarcoma were all exposed to a specific herbicide to control blackberry growth on their
farms. This led to further, statewide investigations of this association, which indicated a
significant link between the agent and the disease.

Research in primary care populations often overturns long-held beliefs based on specialist
research in high-risk populations, which was wrongly assumed to apply to general practice.
Examples include screening for prostate cancer using the PSA test and the use of antibiotics in
otitis media.

Understanding terminology
Validity and reliability
An ideal method of collecting research material is one that is valid.

A valid method is one that measures what it claims to measure.

A reliable method is one that produces repeatable results.

Validity refers to the ‘true’ answer, which must be relevant, complete and accurate. Three
significant questions that evaluate validity are:1

Is the study useful or is the result inconclusive? FIGURE 7.1 Definitions of sensitivity, specificity and predictive values

Do you accept the results of this study as applied to the source population?
Do the results apply to the population in which you would be interested?
Internal validity refers to the adequacy of the study methods in reference to the study population,
while external validity refers to the generalisability of the results to the general population (or,
more specifically, to the patient sitting in front of you).
Reliability refers to the stability of question-and-answer response and is most successfully
measured by testing and then retesting (repeatedly).
The sensitivity of a test depends on the proportion of people with the characteristic (disease) in
whom the test is positive (i.e. percentage positive with disease). For example, if the sensitivity
for a sign is 90%, then the sign will be detected in 90% of the people but not in 10%. The
ultimate sensitive test is one that detects all true positive cases.
The specificity of a test depends on the proportion of people without the characteristic (disease)
in whom the test is negative (i.e. percentage negative of healthy people). The ultimate specific
test is one that detects all the truly negative (disease-free) cases. A gold standard test is one that
is as close to 100% specificity and 100% sensitivity as possible.

Sensitivity, specificity and predictive values Aide-mémoire tip

Sensitivity and specificity, which are integral to validity, are important considerations in decision SPIN—Specific tests where a positive helps rule IN disease
making in medicine, particularly in choosing appropriate investigations for disease diagnoses.
The method of calculation of sensitivity, specificity and predictive values is summarised in SNOUT—Sensitive tests where a negative helps rule OUT disease
FIGURE 7.1 .

A clinical example of sensitivity and specificity is presented in TABLE 7.1 .

 sphygmomanometer recording blood pressure), confounding bias (e.g. investigating the
association between stress and hypertension without considering the influence of alcohol),
Table 7.1 The predictability of signs and symptoms for selection bias (e.g. using hospital outpatients in a community-based study) and publication bias
carpal tunnel syndrome9 (around half of all research is not published, which skews the pool of evidence available for
reading and analysis).
Sensitivity (%) Specificity (%)
Confounding
Paraesthesia 97 4
Waking at night 91 14 This is a situation in which a measure of the effect of exposure on risk is distorted by the
association of exposure with other (known or unknown) factors that influence the outcome.1 A
Anaesthesia 57 61
confounder is a factor that distorts the apparent magnitude of the effect of a study on risk.
Phalen test 58 54
Tinel test 42 63 Chance
Two-point discrimination test 6 98
One must question the probability that the results favouring the experimental intervention could
have occurred by chance; therefore, we resort to statistical help in the form of a probability
Page 59 statement or significance level.
Predictive values express the proportion of positives that are ‘true positives’ and
negatives that are ‘true negatives’. They are markedly affected by the underlying risk of the
disease in the population being studied. Because community patients usually have considerably How is the research undertaken?
lower rates of disease than hospitalised patients, positive predictive values (PPVs) are generally
lower in general practice for any given test or symptom. This reduces the usefulness of ordering ‘Getting started’ can be quite difficult for the beginner. However, assistance is available Page 60
the test or relying on the symptom for a diagnosis. from several sources, including individual GPs with research experience, university departments
of general practice and the RACGP research committee. Seek out a suitable supervisor for the
For example, the presence of haematuria in a general practice patient gives a PPV of less than study. A chronological method follows.
5% for carcinoma being the cause, but the PPV is about 50% in the inpatient hospital setting.
1. The idea. Start with an idea or question, which needs to be interesting, relevant, significant
Incidence and prevalence and answerable.8 It may be appropriate to develop a hypothesis at this stage.

The meanings of these two terms are easily confused: 2. Float the idea. Next, discuss the idea with colleagues or an appropriate accessible authority.

Incidence refers to the number of new cases of a disease (or factor of interest) occurring in a
defined population within a specified period of time.
Prevalence refers to the total number of individuals who have the disease (or factor of interest)
at a particular time in a population. The number is divided by the number of people in the
population at that time.
Examples: The prevalence of multiple sclerosis in temperate climates is 1 in 1000–2000
compared with 1 in 10 000 in the tropics. The incidence of multiple sclerosis in the
Australian state of Victoria (population 5.8 million) is 8 per 100 000 per year.
3. Do a literature search. Review the literature: for example, a Medline search or check with a
central research ‘bank’. Undertake a critical review. Don’t waste effort researching a question
someone else has satisfactorily answered already.
4. Prepare a plan. This can be a short written plan outlining the methodology for the study.
5. Evaluate the plan. Then, contact a supervisor or appropriate authority to evaluate the study
plan, which may be referred to a reference group or research committee.
6. Methodology: develop a protocol.

Prepare background, outline objectives and develop a hypothesis.

Bias
Select target population using clear criteria and appropriate numbers.
This is any effect occurring during the research that tends to produce results that depart
systematically from the true values. Varieties of bias include measurement bias (e.g. fault with a Design the research:
 qualitative or quantitative? Recruitment of patients is a particular skill and often hard work, but it is easier if the researcher
has a large pool of patients with whom he or she enjoys a good relationship. A useful rule is to
questionnaire(s) aim to approach 3n patients if you wish to work with a sample size of n.

Assess internal validity. Some guidelines for choosing the sample size are:9
Consider statistical implications early: the more the individuals in the population differ, the larger the required sample
number of patients the more planned comparisons, the larger the size
method for data analysis larger sample sizes allow detection of smaller differences
Recruit subjects and assistants.
Types of research1
Assess the timeframe.
The two broad categories of research in general practice are qualitative research, which is based
Assess the ethical considerations → ethics approval committee.
on observation and talking with people, and quantitative research, which is based on
7. Consider a preliminary pilot study and project timetable. measurement and analysis of data collection.

8. Seek funding. Solicit advice from appropriate funding bodies. Research can also be classified as primary research, which includes both qualitative and
quantitative methods, and secondary research, which involves systematic reviews and meta-
9. Conduct the study. analysis.

10. Analyse the data/statistics. Qualitative research10

11. Undertake interpretation and conclusions. This research is basically concerned with evaluating human behaviour from the subject’s
perspective. It is based on close observation and is expressed in a descriptive way. It addresses
12. Prepare for publication. questions that begin ‘Why?’, ‘How?’, ‘In what way does?’, e.g. ‘Why have so many people been
dropping out of this fitness program?’
Research design
Common qualitative approaches
Hypothesis development Phenomenology Page 61

The reasoning process of the researcher is based on the null hypothesis—the default assumption Ethnography
that an experimental group does not differ from a control ‘normal’ group in outcome. One
question to consider is: ‘What is the probability that results from the experimental intervention Grounded theory
would have occurred by chance?’
Biography (life story, narrative enquiry)
Selecting a representative sample of appropriate size Case study
Two basic components of subject selection are sample size and sample representativeness. The The methods used are:
latter should be selected in a well-controlled manner.
interviews (open-ended, semi-structured)
A common question is: ‘What is the ideal size of the sample?’ There is no fixed answer but it
must be adequate to produce statistically meaningful results, without being so large as to make focus groups
the research impractical or unaffordable.
 participation observation
document analysis
Qualitative research is an excellent method for generating hypotheses, and can lead to
quantitative research.
Phenomenology
The central focus of this philosophy/method is the lived experience of the world of everyday life.
It describes events, situations, experiences and concepts. It provides:
detailed descriptions of an experience or event as it is lived
deeper understandings and sensitivities
improved thoughtful provision of care
Examples:
effects of Viagra (and other agents) on marital/sexual relationships
experience of carers in Alzheimer disease
effects of workplace bullying on absenteeism
Ethnography (ethnos = a nation)
This examines cultures, peoples and societies including subgroups, e.g. adolescents. It is the
basis of anthropology. The investigator usually identifies a number of key witnesses (informants)
and interviews them to clarify observations.
Grounded theory
This is the development of new theory through the collection and analysis of data. It seeks to
identify the core social processes within a given context in order to build theory that is grounded
in the reality of those being studied.
Quantitative research
Quantitative research is research based on the collection of data in numerical quantities and asks
a specific narrow question, such as ‘What is the chance that . . .?’ or ‘What proportion of ...?’. It
is concerned with hypothesis testing, reliability and validity, and is the cornerstone of
epidemiology. It can be classified broadly as observational, which includes case control, cross-
sectional and cohort studies, and experimental, which includes the classic controlled trial.10
Case control (or retrospective) study is an observational study in which people with a disease
(cases) are compared with those without it (control group). It is often used to determine a
statistical association between an exposure and an outcome, particularly a rare outcome.
Examples: Patients with mesothelioma were investigated for exposure to asbestos or other
agents; the mothers of children born with birth defects were investigated for an association
with drug intake during pregnancy.
Cross-sectional or prevalence study follows a correlation approach using existing databases. It
is a survey of the frequency of disease, risk factors or other characteristics in a defined
population at one particular time.
Example: The prevalence of type 2 diabetes mellitus (diagnosed and undiagnosed) was
investigated in an Aboriginal community living in a particular area of metropolitan Sydney.
Cohort (or prospective) study is also referred to as ‘follow-up’. The study follows a group
(cohort) of individuals with a specified characteristic or disease over a period of time.
Comparisons may be made with a control group.
Example: 120 people with chronic sciatica were followed over 10 years to determine the
outcome of their pain and neurological deficit. These were compared with a matched group
who had undergone laminectomy.
Randomised controlled trial (RCT) is an experimental study that tests for hypothesised
outcomes. Participants in the trial are randomly allocated to either receive the specific
intervention or not receive it (the control group). The objective is to establish a causal
relationship between the intervention and the hypothesised outcome. The ideal scientific trial
is a double-blind trial where neither staff nor the participating patient are aware whether the
participant is in the intervention or control group. An RCT is the typical study when assessing
the effect of a drug compared to a placebo.
Meta-analysis
Meta-analysis is the process that systematically assesses compatible randomised controlled trials
by merging the data (usually from smaller and inconclusive trials) to draw a ‘firmer’ conclusion
from larger numbers of subjects.
Evidence-based medicine
Evidence-based medicine (EBM) is a process of basing clinical practice on validated Page 62
information. According to one of its modern architects, David Sackett, it is ‘the explicit,
judicious and conscientious use of current best available evidence in making decisions about the
care of individual patients’.11 According to Silagy and Haines, ‘EBM is the integration of the
best available scientific evidence with your clinical expertise and knowledge, your intuition, your
wisdom’.12
The process of using EBM should be very comfortable for GPs because scientific methodology
and evidence is second nature to us and has been the basis of our clinical decision making prior
to and subsequent to graduation.
The proposed five steps of applying EBM are similar to basic research methodology:12
1. Construct a clinical question or define the problem.
2. Search for the evidence.
3. Appraise the quality and relevance of the evidence for this particular circumstance.
4. Apply it to the care of an individual patient.
5. Evaluate how effective it is.
The statistical methodologies used in EBM cover the traditional research methods but there is an
emphasis on the methods of risk reduction, absolute and relative risk reduction, and number
needed to treat (NNT). These definitions are included in the glossary of terms later in this
chapter.
GPs have a responsibility to their patients to be well versed with the best evidence when making
decisions about management (see TABLE 7.2 ), whether it be for a minor surgical procedure,
selection of drugs, selection of an investigation or referral to the most appropriate consultant. If
the best evidence reveals that a certain practice we are using is of no value or is less efficacious
than another method, then we should be prepared to change. On the other hand, if we find that a
certain method works for us and there is no current evidence that it is inappropriate, or the
evidence is equivocal, then there is no compelling reason to change.
Table 7.2 Levels of evidence
I Evidence obtained from a systematic review of all relevant randomised trials.
II Evidence obtained from at least one properly designed randomised controlled
trial.
III Evidence from well-controlled trials that are not randomised, or from well-
designed cohort or case-control studies, or multiple time series (with and
without the intervention).
IV Opinions of respected authorities; opinion based on clinical experience;
descriptive studies; or reports of expert committees.
Source: Modified from the NHMRC
GPs need a healthy scepticism about what is best evidence and claims for treatment in addition to
the skill of critical appraisal of research/evidence. We tend to be impressed by the perception that
evidence is a numbers game. However, the great work of James Lind shows that facts do not
necessarily involve large numbers.
For EBM to be accepted by GPs the information needs to be readily accessible, user friendly,
significant, relevant and, perhaps, believable.
The strength of EBM is that it can provide the answers to very important everyday decisions,
especially in screening and preventive medicine, where guidelines have fluctuated over the
decades. The most recent RACGP guidelines for preventive activities in general practice (the red
book)13 highlight the value of current evidence (see: www.racgp.org.au/your-
practice/guidelines).
GPs are currently faced with important decisions about the effectiveness of complementary
therapies, which are very tempting to embrace or trial when searching for ways to manage
difficult problems, such as chronic fatigue syndrome, fibromyalgia, chronic asthma, chronic pain
syndromes and other difficult-to-treat diseases. We are hopeful that EBM can provide the
answers to best practice in addition to evaluating individual therapies.
Remember, however, that Bayes’ theorem tells us that a positive trial result means less if the pre-
existing chances of the treatment working were low to begin with. In other words, ‘extraordinary
claims require extraordinary evidence’. Thus, it is poor practice to justify a new, unusual
treatment by using the reasoning that ‘no one knows, so it might be true’, as if sceptics of that
treatment need to produce proof it doesn’t work before discrediting it. Treatments that are
inherently very unlikely to work (such as homeopathic products or crystal healing) will remain
very unlikely unless a large body of independent evidence suggests otherwise. For the vast
majority of marketed ‘unlikely’ therapies, such evidence will never be produced because the null
hypothesis is actually true.
While it is important to ensure one’s medical practice is based on—or at least heavily Page 63
informed by—evidence, there are concerns that EBM will be seized by bureaucrats to
develop ‘cook book’ guidelines, Holy Writ or economic rationalisation. Others are concerned
about the perceived lack of flexibility. An interesting critical review, especially affecting
psychiatry, was presented by John Ellard in his paper ‘What exactly is evidence-based
medicine?’14 He questioned the validity of the evidence underpinning EBM and the biases of
both the proponents of ‘science’ and ‘art’ with the caution of Louis Pasteur: ‘The greatest
derangement of the mind is to believe in something because one wishes it to be so’.15
Page 64
Glossary of terms16,17
Apart from the terms and definitions used in preceding pages, it is important to
highlight the following terms used in EBM/research.
Absolute risk reduction (ARR) The absolute difference in event rates between two
intervention or treatment groups. It gives an indication of the baseline risk and
treatment effect. An ARR of 0 means no difference and thus the treatment has no
 effect.
Example: The ARR for prophylactic ciprofloxacin in the case cited is 10 – 2 = 8
per 100 (0.08) or 8%.
Accessing the evidence
The Cochrane Library is free to access in Australia. It includes:
Database of Systematic Reviews
Database of Abstracts of Reviews of Effectiveness
www.thecochranelibrary.com
or
www.cochrane.org
The TRIP database searches for all relevant research articles that answer your
question (typed in plain English). See: www.tripdatabase.com
Analysis of variance This allows comparisons between the means of two samples
of similar populations with a normal distribution. The contribution to variance for
each variable can be determined and tested for statistical significance.
Clinical significance Whether the benefit to people receiving an intervention
compared to the control group is great enough to warrant the intervention. It is
based on measure of effect.
Confidence interval A measure of the imprecision of the data results. The
statistically derived range of values around a trial result in which the probability is
that the true result will be within the range.
A 95% (standard) confidence interval for a sample indicates that there is a 95%
chance that the interval includes the true population proportion whose
circumstances comply with the evidence.
Control event rate (CER) The percentage of subjects in the control group that
experienced the event of interest.
Experimental event rate (EER) The percentage of subjects in the intervention
group that experienced the event of interest.
Kappa Cohen’s kappa measures the agreement between the evaluations of two
raters when both are rating the same object. A value of 1 indicates perfect
agreement. A value of 0 indicates that agreement is no better than chance. It is an
appropriate statistic for tables that have the same categories in the columns as in
the rows (e.g. when measuring agreement between two raters).
Number needed to treat (NNT) The number of people who must be treated over a
given period of time with the experimental therapy (specific intervention) to
achieve one good outcome or prevent one adverse outcome. This incorporates
the duration of treatment. It is a measure of the absolute relative risk. Obviously
the lower the NNT, the better the treatment. It is calculated as 100/ARR (%); that
is, the reciprocal of the ARR.
Note: The NNT will be different for different patient populations depending on
their baseline risk for developing the outcome of interest.
Odds ratio The probability of the occurrence of an event compared to its non-
occurrence.
Publications
Clinical evidence: BMJ Publishing Group, refer to: www.clinicalevidence.org
Evidence-based medicine. BMJ Publishing Group
Probability (p) value A deceptively complex measure to understand. It is a
statistical summary of the incompatibility between the observed data and what we
would have expected to see if the treatment did not work in the slightest (i.e. if the
‘null hypothesis’ was true). The lower the p value, the less consistent it is that the
experiment results can be explained by the null hypothesis. Confusingly, a p=0.05
does not at all equate to saying the treatment is therefore 95% likely to work, nor
that the result had a 5% probability of occurring by chance. For the curious, a
2016 article offers a 14-page explanation.18
Relative risk (RR) The ratio of the risk of the outcome (e.g. disease or death) in the
treatment/exposure group compared with the control/unexposed group. RR
informs us how many times more likely an event is to occur in the treatment group
compared with the control group.
Calculation: RR = EER/CER
RR = 1 means no difference, so treatment has no effect
RR >1 means the treatment increases the risk of disease/death
RR <1 means the treatment decreases the risk
Example: If the risk of death from people exposed to inhalation of anthrax spores
is reduced from 10 in 100 cases to 2 in 100 cases with 60 days of prophylactic
ciprofloxacin, the RR of death in this group is 0.20 or 20%.
Relative risk reduction (RRR) The proportional reduction of adverse events
between the treatment/experimental and the control groups in a trial (i.e. RRR is
the ratio of the absolute risk reduction to the risk of the outcome in the control
 group). An alternative way to calculate the RRR is to subtract the RR from 1 (i.e.
RRR = 1 − RR).
In the example it is: 1 − 0.2 = 0.80 or 80% or:
RRR is probably the most commonly reported measure of treatment effects,
particularly when trying to emphasise the usefulness of a treatment, but the
ARR gives a more realistic picture.
Risk (R) The probability that an event (death or disease) will occur.
Statistical significance The likelihood of a difference between two groups being
real, based on the possibility that the difference may have occurred by chance
alone. It is based on confidence intervals and p values.
Type I error A type I error occurs when a study concludes that there is a difference
between two groups when there is no difference.
Type II error A type II error occurs when a study concludes that no difference exists
between groups when there is a true difference.
Critical appraisal of published research
The objective of critically appraising a paper is to determine whether the methods and results of
the research have significant validity to produce useful information. The appraisal starts with a
careful review of the abstract, which ideally should be presented in a structured format.
1. What were the objectives of the study?
2. What was the study design?
3. Were there any potential problems associated with the design?
4. Were all the patients who entered the study properly accounted for at its conclusion?
5. What were the important results?
6. How would you interpret and explain these results?
Many studies, quite legitimately, are sponsored by a company that may benefit from a positive
finding, and/or are authored by researchers who have received industry funding. This does not
negate any finding, but does probably warrant a more thorough critical appraisal before applying
that finding to your patients. A sponsored study that supports an intervention is more likely to be
published and widely disseminated than an unsponsored study that does not support the
intervention.
Resources
Bowling A. Research Methods in Health: Investigating Health and Health Services (2nd edn).
Milton Keynes: Open University Press, 2002.
Glasziou P, Del Mar C, Salisbury J. Evidence-based Medicine Workbook. London: BMJ Books,
2003.
Kristiansen I, Mooney G. Evidence-based Medicine in its Place. Oxfordshire: Routledge, 2004.
Sackett DL et al. Evidence Based Medicine: How to Practice and Teach EBM. London:
Churchill Livingstone, 1997.
Silagy C, Haines A. Evidence Based Practice in Primary Care. London: BMJ Books, 1998.
References
1 Schattner P. Introduction to research and research designs. In: Piterman L, ed. Introduction
to Research in Family Medicine MFM 2006, 1996: 2–7.
2 Eimerl T. Organized curiosity. J R Coll Gen Pract, 1960; 3(1): 246–52.
3 Murrell TGC. Nineteenth century masters of general practice. Med J Aust, 1991; 155:
785–92.
4 Anderson NA, Bridges-Webb C, Chancellor A. General Practice in Australia. Sydney:
Sydney University Press, 1986: 124–30.
5 Howie JGR. Research in General Practice (2nd edn). London: Chapman & Hall, 1992:
12–14.
Bridges-Webb C. The Australian general practice morbidity and prescribing survey, 1969–
6 1976. Med J Aust (Suppl.), 1976; 2: 5–20.
7 Lamberts H, Wood M. ICPC: International Classification of Primary Care. Oxford:
Oxford University Press, 1987.
8 Silagy CA, Schattner P, eds. An Introduction to General Practice Research. Melbourne:
Monash University, Department of Community Medicine, 1990.
9 Fowkes FGR, Fulton PM. Critical appraisal of published research: introductory guidelines.
 BMJ, 1991; 302: 1136–40. Page 65

10 McBride A, Hespe C. Research in general practice. Australian Doctor, 29 November 2013:

21–8.

11 Sackett DL et al. Evidence based medicine: what it is and what it isn’t. BMJ, 1996; 312:
71–2. 8 Inspection as a clinical skill
12 Silagy C, Haines A. Evidence Based Practice in Primary Care. London: BMJ Books,
1998.

13 RACGP. Guidelines for Preventive Activities in General Practice (9th edn). Melbourne:
RACGP, 2016. More mistakes, many more, are made by not looking than by not knowing.

14 Ellard J. What exactly is evidence-based medicine? Modern Medicine Australia, 1997; SIR WILLIAM JENNER (1815–1898)
(September): 22–5.
GPs have an ideal opportunity to practise the art of careful observation and to notice all the signs
15 Pasteur L. Speech to the French Academy of Medicine, July 18, 1876. In: Strauss MB, ed. and features characteristic of a patient from the time seen in the waiting room until the physical
Familiar Medical Quotations. Boston: Little Brown & Co., 1968: 502. examination. We should be ‘like Sherlock Holmes’ in our analysis of the patient and accept the
challenge of being astute diagnosticians and proud members of a noble profession.
16 Rosser M, Shafir MS. Evidence-based Family Medicine. Hamilton: BC Decker Inc., 1998.
It is important to stand back (so to speak) and look at the patient’s general appearance and
17 NPS News. Drug promotion: distinguishing the good oil from snake oil. NPS News, 2002; demeanour. We should be assessing their mood and affect as much as their physical appearance.
25: 1–4. The first assessment to make is ‘Does the patient look sick?’.
18 Greenland S et al. Statistical tests, P values, confidence intervals, and power: a guide to
misinterpretations. Eur J Epidemiol, 2016; 31: 337–50. First impressions
The first impression of the patient is always striking in some way and we should discipline
ourselves to be as analytical as possible.

A rapid inspection from a trained observer may be all that is necessary to allow the observer to
pinpoint specific disorders, such as anaemia, hyperthyroidism, jaundice, acromegaly and alcohol
abuse. Such ‘spot’ diagnosis is not justifiable unless the original signs are supported by further
examination, which must be comprehensive.

The following observations should therefore be made:

facial characteristics

abnormalities of the head and neck

examination of the mouth

character and distribution of hair

examination of the skin (in general)

 height and weight

posture and gait

genitalia

examination of extremities (hands, feet, nails, etc.)

Physiognomy
Physiognomy, from the Greek physiognomonia, meaning the judging of one’s nature, is the art of
judging character from the features of the face. It flourished during the Middle Ages. According
to Addison,1 ‘everyone is in some degree a master of that art which is physiognomy; and
naturally forms to themselves the character of a stranger from the features of the face’. In reality,
all doctors use a physiognomical approach to diagnose many medical conditions, although we
may not be as expert at the art as we should be.

The face is a person’s most immediate means of communicating with others; it is a shield and
banner, a mask and a mirror. It reveals mental faculties and emotional turmoil. It is the first
perspective gained of patients as they walk into the consulting room. FIGURE 8.1 Kayser–Fleischer ring around the cornea in a patient with Wilson
disease
The face as a mirror of disease
Diagnostic facies3
A fascinating aspect of the art of clinical medicine is the clinical interpretation of the patient’s
facies. The term ‘facies’ refers to the appearance, form and character of the face. Not only are
specific skin lesions common on the face but the face may also mirror endocrine disorders and Acromegalic
organ failure such as respiratory, cardiac, kidney and liver failure.
The enlarged characteristic face is due to a large supra-orbital ridge that causes frontal bossing, a
Jaundice may be masked by the natural colour of the cheeks but the yellow conjunctivae will be broad nose and a prominent broad and square lower jaw. Other features include an enlarged
distinctive. A marked plethoric complexion may be seen in chronic alcoholics (alcohol may tongue and soft tissue swelling of the nose, lips and ears (CHAPTER 14 ).
produce a pseudo-Cushing syndrome), in Cushing disease or in polycythaemia. Thickening of
the subcutaneous tissues may be seen in chronic alcoholism, acromegaly and myxoedema, and Adenoidal
the puffiness of the eyelids in the latter condition may simulate the true subcutaneous oedema of
kidney disease. Due to mouth breathing in children: a narrow nose/nares, a high-arched palate (the ‘Gothic’
palate), prominent incisor teeth, undershot jaw with a perpetually open mouth and ‘stupid’
An individual’s personality and mood rarely fail to leave an impression on the facial expression.
characteristics.2 This is partly due to the alteration in facial lines and wrinkles, which may
become modified in anger, irritability, anxiety and stress. More profound changes occur with
mental disease. Various CNS diseases, such as Parkinson disease and myopathies, can affect Alcoholic (due to chronic use)
facial expression (e.g. the immobile face of the patient with Parkinson disease).
It is important to recognise the characteristic changes as early as possible—a plethoric face,
The appearance of the eyes can also be very significant and may reflect underlying Page 66 thickened ‘greasy’ skin, telangiectasia, suffused conjunctivae and rosacea. Other features may
systemic disease (see FIG. 8.1 ). include rhinophyma, parotid swelling and characteristic changes to the lips and corners of the
mouth.

Children born with fetal alcohol spectrum disorder have specific facial features (see
CHAPTER 23 ).
Bird-like (systemic sclerosis: CREST syndrome)
The bird-like features—beaking of the nose, limitation of mouth opening, puckering or
furrowing of the lips and a fixed facial expression—are due to binding down of facial skin. Other
features include telangiectasia on the face and hands.
Chipmunk (thalassaemia major)
There is bossing of the skull, hypertrophy of the maxillae (which tends to expose the upper
teeth), prominent malar eminences and depression of the bridge of the nose. The major
haemoglobinopathies cause hyperplasia of the skull and facial bones because of an increase in
the bone marrow cavity.
Choleric
The patient with cholera has a pale face with cold clammy skin, sunken eyes, hollow cheeks and
a forlorn, apathetic look (similar to the Hippocratic facies).
Congenital syphilis
Sometimes referred to as ‘bulldog’ face, it is characterised by a saddle nose due to the sunken
bridge of the nose and interstitial keratitis.
Cushingoid
The face has a typical ‘moon shape’, plethora (rubicund), hirsutism (more obvious in women)
and acne (CHAPTER 14 ).
Facial nerve palsy
Features include unilateral drooping of the corner of the mouth and flattening of the nasolabial
fold (CHAPTER 22 ).
Upper motor neurone (UMN) type: the forehead movement is spared
Lower motor neurone (LMN) type (e.g. Bell palsy, Ramsay–Hunt syndrome): lack of forehead
muscle tone
Hippocratic
This describes the deathly, mask-like features of advanced peritonitis or streptococcal
septicaemia—sunken eyes; ‘gaunt’ face; ‘collapsed’ temples; dry, crusty lips; and clammy
forehead.
Horner syndrome
Due to dysfunction of cervical sympathetic output, the main abnormalities are ocular—ipsilateral
partial ptosis, miosis (constricted pupil) and enophthalmos; also associated anhidrosis.
Marfanoid (Marfan syndrome)
The typical tall stature, arachnodactyly and chest deformities, combined with the facial features
of a subluxation of the lens of the eye and high-arched palate, help to pinpoint the diagnosis
(CHAPTER 23 ).
Mitral (mitral valve disease, especially mitral stenosis)
This is typically shown in flushed or rosy cheeks with a bluish tinge due to dilatation of the
malar capillaries. It is associated with pulmonary hypertension.
Mongoloid (Down syndrome)
The facial features include a flat profile, with crowded features, a round head, dysplastic Page 67
lowset ears, protruding tongue, mongoloid slant of the eyes with epicanthic folds, mouth hanging
open and peripheral silver iris spots (Brushfield spots) (CHAPTER 23 ).
Myopathic (myopathy/myasthenia gravis)
Facial characteristics include an expressionless, ‘tired’-looking face with bilateral ptosis.
Myotonic (dystrophia myotonia)
Typical features include frontal baldness, expressionless triangular facies, partial ptosis, cataracts
and temporal muscle atrophy.
Myxoedemic (hypothyroidism)
The face usually has an apathetic look and is ‘puffy’ with possible periorbital oedema. There is
broadening of the lower part of the face. The skin (not the sclera) may appear yellow (due to
hypercarotenaemia) and is generally dry and coarse. Other features may include thin, coarse,
listless hair and loss or thinning of the outer third of the eyebrows. The tongue is usually
enlarged and the patient speaks with a ‘thickened’, croaking, slow speech (CHAPTER 14 ).
Obese
The distinguishing feature from the ‘moon face’ of Cushing disease is the general roundness and
uniform fatness of the face.

Pagetic (Paget disease)

The main feature is skull enlargement, notably of the frontal and parietal areas (the head
circumference is usually greater than 55 cm, which is abnormal)—the ‘hat doesn’t fit any more’
hallmark. Other features include increased bony warmth and deafness (CHAPTER 58 ).

Parkinsonian
Characteristic is the mask-like facies with lack of facial expression and fixed unblinking stare.
There is immobility of the facial muscles (CHAPTER 22 ).

Peutz–Jeghers
Pigmented macules (1–5 mm in diameter) occur on lips, buccal mucosa and fingers.

Risus sardonicus
FIGURE 8.2 Thyrotoxicosis illustrating a typical thyroid stare
A grin-like appearance of hypertonic facial muscles (typical of tetanus).
Turner syndrome
Smoker’s
The facial characteristics include ptosis—‘fish-like’ mouth, small chin (micrognathia), low-set
A face older than the years with premature gross wrinkling of the skin, stained teeth, deep raspy ears and deafness. Cardiac lesions include coarctation of the aorta and pulmonary stenosis.
voice, ‘loose’ cough, smell of tobacco. Webbing of the neck is the classic sign (CHAPTER 23 ).

Thyrotoxic (hyperthyroidism) Uraemic

The prominent eyes (sclera may not be covered by the lower eyelid) and conjunctivitis are A sallow ‘muddy’ complexion with uraemic fetor—an ammoniacal halitosis.
features of the thyrotoxic patient (CHAPTER 14 ). The thyroid stare (a frightened expression)
may also be present (see FIG. 8.2 ). Page 68

Other classic facies (similes)

Bulldog Congenital syphilis
Chipmunk Thalassaemia major
Death mask Peritonitis; cholera
Elfin William syndrome
Fish-like mouth Turner syndrome
Hatchet Dystrophia myotonia
Long face Fragile X syndrome
Mask Parkinson; Wilson disease
Monkey Hypopituitarism
Moon Cushing syndrome
Old man in child Marasmus
Raccoon Basilar skull fracture
Rodent Beta thalassaemia; Pierre Robin sequence
Toad Hypothyroidism

Specific characteristics
Various facial signs may be present. The causes of these signs are listed below.

Butterfly ‘rash’
SLE

Erythema, scaling with a discrete red advancing edge on the cheeks and bridge of the nose; the
sharp border, lack of pustules and adherent scale make it differ from rosacea

Rosacea

Papules, pustules and telangiectasia on an erythematous background on cheeks, forehead and

chin

Erysipelas

Painful, erythematous, indurated skin infection with a well-defined raised edge

Seborrhoeic dermatitis

Red and scaly rash involving eyebrows, eyelids, nasolabial folds

Photosensitivity eruptions

Erythematous on areas that are exposed to the sun

Chloasma/melasma
Increased browning pigmentation, usually confined to symmetrical areas of the cheeks (see
FIG. 8.3 ). Common in pregnancy and caused by drugs:

combined oral contraceptive pill

hydroxychloroquine (Plaquenil)

diphenylhydrazine FIGURE 8.3 Melasma (chloasma) in the typical distribution soon after the
birth of the second child. Sometimes called the mask of pregnancy.

Malar flush
 Mitral stenosis Telangiectasia
Pulmonary stenosis Page 69
Systemic sclerosis
Rosacea CREST syndrome
SLE Liver disease (e.g. alcoholism)
Mesenteric adenitis
Cyanosis
Spider naevi
Cyanosis is a bluish discolouration of the skin and mucous membranes due to deoxygenated
Pregnancy haemoglobin concentrated in the superficial blood vessels. The arterial oxygen saturation is 80–
85% before it is clinically apparent. It is classified as central or peripheral.
Liver disease

Vitamin B deficiency in normal people Central

Cyanosis is present in parts of the body with good circulation, such as the lips and tongue. The
Enlarged tongue areas feel warm. The main causes are pulmonary disease, pulmonary oedema, cyanotic
congenital heart disease (right to left shunt), respiratory depression and polycythaemia (see
Acromegaly FIG. 8.4 ).
Hypothyroidism

Amyloidosis

Down syndrome

Cataracts: risk factors

Ageing

Senility

Corticosteroid therapy

Diabetes

Hypoparathyroidism

Dystrophia myotonia

Trauma (may be delayed)

Ocular disease (e.g. glaucoma)

Smoking
 Cyanosis is in the extremities, such as the outer surface of the lips, finger tips, nose and ears. The
areas feel cold. The main causes are peripheral vascular disease, cardiac failure, ‘shock’,
exposure to cold, left ventricular failure and all causes of central cyanosis.

Clubbing of fingers
Features
Loss of usual angle between base of nail and nail fold

Curvature in two planes

Increased sponginess in base of nail

Increased convexity of nail

Mainly caused by respiratory disease

Causes
1. Lung disease:

carcinoma

bronchiectasis

cystic fibrosis

abscess/empyema

pulmonary fibrosis

2. Heart disease:

infective endocarditis

cyanotic congenital heart disease (see FIG. 8.4 )

3. Liver disease:

cirrhosis

FIGURE 8.4 Adolescent patient with central cyanotic heart disease and 4. Gastrointestinal disease:
associated clubbing of the fingers
ulcerative colitis

Peripheral Crohn disease

 coeliac disease

5. Congenital

Increased general pigmentation

Increased pigmentation is not common but if obvious in areas exposed to the sun, look for
‘hidden’ areas, such as the inner aspect of the forearms. Causes include those listed below.

Increased melanocyte-stimulating hormone (MSH)

Addison disease (see CHAPTER 14 )

Cushing syndrome

Ectopic ACTH syndrome

AIDS

Metabolic
Hyperthyroidism Page 70

Haemochromatosis (see FIG. 8.5 )

Cirrhosis of the liver

Porphyria cutanea tarda

Chronic kidney failure

Malnutrition/malabsorption

Pregnancy

FIGURE 8.5 Patient showing pigmentation of primary haemochromatosis and

associated arthritis of fingers

Drugs
 Amiodarone Page 71

Antibiotics (busulphan, bleomycin, minocycline)

Antimalarials (chloroquine/hydroxychloroquine)

Arsenic, gold, silver

Chemotherapy

Dapsone

Oral contraceptive pill (OCP)

Phenothiazines

Photochemotherapy (PUVA)

Psoralens

Thiazides

Tumours
Lymphomas

Acanthosis nigricans

Metastatic melanoma

References
1 Addison T. A Collection of the Published Writings of Thomas Addison MD. New
Sydenham Soc, 1818.

2 Bates B, Cleese J. The Human Face. London: BBC, 2001.

3 Talley NJ, O’Connor S. Clinical Examination: A Systematic Guide to Physical Diagnosis

(7th edn). Sydney: Elsevier, 2014: 30–3.

Part 2 Diagnostic perspective in general practice
Page 72
9 A safe diagnostic model
For most diagnoses all that is needed is an ounce of knowledge, an ounce of intelligence, and a
pound of thoroughness.
ANON (1951), LANCET
The discipline of general practice is probably the most difficult, complex and challenging of all
the healing arts. Our field of endeavour is at the very front line of medicine and as practitioners
we shoulder the responsibility of the early diagnosis of very serious, perhaps life-threatening,
illness in addition to the recognition of anxiety traits in our patients.
The teaching of our craft is also an exciting challenge and presupposes that we have a profound
comprehension of our discipline.
Our area is characterised by a wide kaleidoscope of presenting problems, often foreign to the
classic textbook presentation and sometimes embellished by a ‘shopping list’ of seemingly
unconnected problems or vague symptoms—the so-called undifferentiated illness syndrome.1
Common undifferentiated symptoms include tiredness or fatigue, sleeping problems, anxiety and
stress, dizziness, headache, indigestion, anorexia and nausea, sexual dysfunction, weight loss,
loss of interest, flatulence, abdominal discomfort and chest discomfort.2 It is important,
especially in a busy practice, to adopt a fail-safe strategy to analyse such presenting problems.
Such an approach is even more important in a world of increasing medical litigation and
specialisation.
To help bring order to the jungle of general practice problems, the principal author has developed
a simple model to facilitate diagnosis and reduce the margin of error.
The concept of diagnostic triads
A most useful guide to learning or memorising diagnoses, especially of elusive and uncommon
conditions, is to remember three key points to the condition. The cognitive process of learning
these so-called ‘triads’ and even ‘tetrads’ provides a useful template for the diagnostic
methodology required in general practice. Some simple examples are shown in the following
box.
Examples such as these are interspersed throughout the text, especially in this chapter, and are
prefixed by the symbol DxT.
Examples of diagnostic triads
DxT angina + dyspnoea + blackouts → aortic stenosis
DxT menstrual dysfunction + obesity + hirsutism → polycystic ovarian
syndrome
DxT malaise + night sweats + pruritus → Hodgkin lymphoma
DxT abdominal pain + diarrhoea + fever → Crohn disease
DxT vertigo + vomiting + tinnitus → Ménière syndrome
DxT dizziness + hearing loss + tinnitus → acoustic neuroma
DxT fatigue + muscle weakness + cramps → hypokalaemia
The basic model
The use of the diagnostic model requires a disciplined approach to the problem with the medical
practitioner quickly answering five self-posed questions. The questions are shown in
TABLE 9.1 .
Table 9.1 The diagnostic model for a presenting problem
1 What is the probability diagnosis?
2 What serious disorders must not be missed?
3 What conditions are often missed (the pitfalls)?
4 Could this patient have one of the ‘masquerades’ in medical practice?
5 Is this patient trying to tell me something else?
This approach, which is based on considerable experience, requires the learning of a
predetermined plan which, naturally, would vary in different parts of the world but would have a
certain universal application in the so-called developed world.
Each of the above five questions will be expanded.
An excellent acronym on this theme, ‘PROMPT’, was devised by a reader, Dr Kelly
Teagle:
common cause. However, it is vital, especially working in the modern framework of a litigation-
conscious society, not to miss serious, life-threatening disorders.
To achieve early recognition of serious illness, the GP needs to develop a ‘high index of
Page 73 suspicion’. This is generally regarded as largely intuitive, but this is probably not the case, and it
would be more accurate to say that it comes with experience.

P Probability The serious disorders that should always be considered ‘until proven otherwise’ include
R Red flag malignant disease, acquired immunodeficiency syndrome (AIDS), coronary disease and life-
O Often missed threatening infections such as meningitis, meningococcal infection (see FIG. 9.1 ),
M Masquerades Haemophilus influenzae b infections, septicaemia and infective endocarditis (see TABLE 9.2 ).
P Patient wants to
T Tell me something

Another contribution is by Flinders University medical student, Judah:

Things are not always ‘cut and dried’:

C Connective tissue disorders

U UTIs, particularly in very old and very young
T Thyroid disease
and
D Depression
R remember to Rule out serious and Rare causes
I Iatrogenic causes
E Emotional needs
D Diabetes

1 The probability diagnosis

The probability diagnosis is based on the doctor’s perspective and experience with regard to
prevalence, incidence and the natural history of disease. GPs acquire first-hand epidemiological
knowledge about the patterns of illness apparent in individuals and in the community, which
enables them to view illness from a perspective that is not available to doctors in any other
disciplines. Thus, during the medical interview, the doctor not only is gathering information,
allocating priorities and making hypotheses, but also is developing a probability diagnosis based
on acquired epidemiological knowledge.

2 What serious disorders must not be missed?

While epidemiological knowledge is a great asset to the GP, it can be a disadvantage in that he or
she is so familiar with what is common that the all-important rare cause of a presenting symptom
may be overlooked. On the other hand, the doctor in the specialist clinic, where a different
spectrum of disease is encountered, is more likely to focus on the rare at the expense of the
 Neoplasia, especially malignancy
HIV infection/AIDS
Asthma/anaphylaxis
Severe infections, especially:
meningoencephalitis
septicaemia
meningococcal infection (see FIG. 9.1 )
epiglottitis
infective endocarditis
pneumonia/influenza/SARS
clostridia infections, e.g. tetanus, botulism, gas gangrene
Coronary artery disease:
myocardial infarction
unstable angina
arrhythmias
Imminent or potential suicide
Intracerebral lesions (e.g. subarachnoid haemorrhage)
Ectopic pregnancy

Myocardial infarction or ischaemia is extremely important to consider because it is so potentially

lethal and at times can be overlooked by the busy practitioner. It does not always manifest as the
classic presentation of crushing central pain but can present as pain of varying severity and
quality in a wide variety of sites. These sites include the jaw, neck, ear, arm, epigastrium and
interscapular region. Coronary artery disease may manifest as life-threatening arrhythmias that
may present as palpitations and/or dizziness. A high index of suspicion is necessary to diagnose
arrhythmias.

Page 74

Diagnostic triads for life-threatening conditions (examples)

DxT fever + rigors + hypotension → septicaemia

DxT fever + vomiting + headache → meningitis

FIGURE 9.1 Meningococcal infection: complications of infarction (DIC)
including gangrene from meningococcaemia DxT fatigue + dizziness ± syncope → cardiac arrhythmia

DxT fever + drooling + stridor (child) → epiglottitis

Table 9.2 Serious ‘not to be missed’ conditions
 DxT headache + vomiting + altered consciousness → subarachnoid
haemorrhage (SAH)
DxT abdominal pain + amenorrhoea + abnormal vaginal bleeding →
ectopic pregnancy
DxT fatigue + dyspnoea on exertion + dizziness → cardiomyopathy
infection, whether it is the cause of fever in a child, lumbar pain in a pregnant woman or malaise
in an older person. The dermatomal pain pattern caused by herpes zoster prior to the eruption of
the rash (or if only a few sparse vesicles erupt) is a common trap.
A typical pitfall is Addison disease, where some patients can wait up to 15 years before being
diagnosed. The absence of subdued classic pigmentation (see FIG. 9.2 ) can mask the early
diagnosis.

Consider M2I2
A traditional way of classifying serious diseases is the pathology aide-mémoire:

Malignancy

Metabolic

Infarction

Infection

Danger: think VIC

V = Vascular

I = Infection (severe)

C = Cancer

Red flags
Red flags (alarm bells) are symptoms or signs that alert us to the likelihood of significant harm.
Such underlying disease must not be missed and demands careful investigation. Examples
include weight loss, vomiting, altered cognition, fever >38°C, dizziness, and/or syncope at the
toilet and pallor. Red flags will be outlined under presenting symptoms throughout the text.

3 What conditions are often missed?

This question refers to the common ‘pitfalls’ so often encountered in general practice. This area
is definitely related to the experience factor and includes rather simple, non-life-threatening
problems that can be so easily overlooked unless doctors are prepared to include them in their
diagnostic framework.

Classic examples include smoking or dental caries as a cause of abdominal pain, allergies to a
whole variety of unsuspected everyday contacts, foreign bodies, occupational or environmental
hazards as a cause of headache, respiratory discomfort or malaise, and faecal impaction as a
cause of diarrhoea. We have all experienced the ‘red face syndrome’ from a urinary tract
 undiagnosed.3 Research by dermatologists4 has highlighted that it can present in a number of
ways that can affect the skin and hair. Apart from typical gastrointestinal symptoms, such as
chronic diarrhoea, steatorrhoea, weight loss, anorexia and abdominal distension, the following
atypical symptoms have been described:

nutritional presentations, including folate, zinc or iron (in particular) deficiency

grouped blisters around the knees, elbows and buttocks (dermatitis herpetiformis)

hair loss and mouth ulcers

Menopausal symptoms can also be overlooked as we focus on a particular symptom. Page 75

Some important pitfalls are given in TABLE 9.3 .

Table 9.3 Classic pitfalls

Abscess (hidden)
Addison disease
Allergies
Candida infection
Chronic fatigue syndrome
Coeliac disease
Domestic abuse, including child abuse
Drugs (see TABLE 9.4 )
Endometriosis
Faecal impaction
Foreign bodies
Giardiasis
Haemochromatosis
Herpes zoster
Lead poisoning
Malnutrition (unsuspected)
Menopause syndrome
Migraine (atypical variants)
Paget disease
Pregnancy (early)
FIGURE 9.2 Woman with Addison disease showing facial pigmentation
Sarcoidosis
Haemochromatosis can be a surprise diagnosis, often discovered by serendipity following a Seizure disorders
screening blood test for unexplained fatigue. Coeliac disease is a classic master of disguise in Tourette syndrome
both children and adults. It now ranks as one of the most common, widespread and undiagnosed Urinary infection
illnesses affecting humans. In Australia, 1.5% of the population are affected but 80% remain
 Diagnostic triads for some ‘pitfalls’

DxT fatigue + weight loss + diarrhoea → coeliac disease

DxT anorexia/nausea + faecal leaking + abdominal bloating →

faecal impaction

DxT abdominal cramps + flatulence + profuse diarrhoea →

giardiasis

DxT lethargy + tiredness + arthralgia → haemochromatosis

DxT lethargy + abdominal pains + irritability (in child) → lead

poisoning

DxT aching bones + waddling gait + deafness → Paget disease

DxT malaise + cough + fever (± erythema nodosum) → sarcoidosis

DxT (male child) snorting, blinking + oral noises (e.g. grunts) ± loud
expletives → Tourette syndrome

4 The masquerades (‘chameleons’)

It is important to utilise a type of fail-safe mechanism to avoid missing the diagnosis of these
disorders. Some practitioners refer to consultations that make their ‘head spin’ in confusion and
bewilderment, with patients presenting with a ‘shopping list’ of problems. It is in these patients
that a checklist is useful. Consider the apparently neurotic patient who presents with headache,
lethargy, tiredness, constipation, anorexia, indigestion, shortness of breath on exertion, pruritus,
flatulence, sore tongue and backache. In such a patient we must consider a diagnosis that links all
these symptoms, especially if the physical examination is inconclusive; this includes iron
deficiency anaemia, depression, diabetes mellitus, hypothyroidism (see FIG. 9.3 ) and drug
abuse.

FIGURE 9.3 Hypothyroidism in a 60-year-old woman, a classic masquerade,

with a slow subtle onset of facial changes

A century ago it was important to consider diseases such as syphilis and tuberculosis as Page 76
the great common masquerades, but these infections have been replaced by iatrogenesis, 1 Chronic kidney failure
malignant disease, alcoholism, endocrine disorders and the various manifestations of
2 Malignant disease
atherosclerosis, particularly coronary insufficiency and cerebrovascular insufficiency.
lymphomas
If the patient has pain anywhere it is possible that it could originate from the spine, so the lung
possibility of spinal pain (radicular or referred) should be considered as the cause for various caecum/colon
pain syndromes, such as headache, arm pain, leg pain, chest pain, pelvic pain and even kidney
abdominal pain. The author’s experience is that spondylogenic pain is one of the most
underdiagnosed problems in general practice. multiple myeloma
ovary
A checklist that has been divided into two groups of seven disorders is presented in pancreas
TABLES 9.4 and 9.5 . The first list, ‘the seven primary masquerades’, represents the more metastasis
common disorders encountered in general practice; the second list includes less common
masquerades—although some, such as Epstein–Barr mononucleosis, can be very common 3 HIV infection/AIDS
masquerades in general practice.
4 Baffling bacterial infections
syphilis
Table 9.4 The seven primary masquerades tuberculosis
infective endocarditis
1 Depression the zoonoses
2 Diabetes mellitus Chlamydia infections
atypical pneumonias (e.g. Legionnaire disease)
3 Drugs
others
iatrogenic
self-abuse 5 Baffling viral (and protozoal) infections
alcohol Epstein–Barr mononucleosis
narcotics TORCH organisms (e.g. cytomegalovirus)
nicotine hepatitis A, B, C, D, E
others mosquito-borne infections
malaria
4 Anaemia
Ross River fever
5 Thyroid and other endocrine or metabolic disorders dengue fever
hyperthyroidism others
hypothyroidism
Addison disease 6 Neurological dilemmas
Parkinson disease
6 Spinal dysfunction Guillain–Barré syndrome
7 Urinary tract infection (UTI) seizure disorders
multiple sclerosis
myasthenia gravis
Table 9.5 space-occupying lesion of skull
The seven other masquerades
migraine and its variants
others
 7 Connective tissue disorders and the vasculitides
connective tissue disorders
systemic lupus erythematosus (SLE)
systemic sclerosis
dermatomyositis
overlap syndrome
vasculitides
polyarteritis nodosa
giant cell arteritis/polymyalgia rheumatica
granulomatous disorders

Neoplasia, especially malignancy of the so-called ‘silent areas’, can be an elusive diagnostic
problem. Typical examples are carcinoma of the nasopharynx and sinuses, ovary, caecum,
kidney and lymphopoietic tissue. Sarcoidosis is another disease that can be a real masquerade
(see CHAPTER 38 ).
FIGURE 9.4 Artefactual purpura showing an unusually symmetrical
Systemic lupus erythematosus (SLE) has been described as ‘the great pretender’.5 The two most
distribution in sites that can be reached by the patient (a ‘ticket of entry’)—
common symptoms are joint pain and fatigue but it is a multisystem disease that may present
Munchausen syndrome
with involvement of any of these organ systems and may not initially be recognised as such.
The author has another checklist (see TABLE 9.6 ) to help identify the psychosocial reasons for
As a practical diagnostic ploy, the author has both lists strategically placed on the surgery wall
a patient’s malaise.
immediately behind the patient. The lists are rapidly perused for inspiration should the diagnosis
for a particular patient prove elusive.
Table 9.6 Underlying fears or image problems that
5 Is the patient trying to tell me something? cause stress and anxiety

The doctor has to consider, especially in the case of undifferentiated illness, whether the patient
has a ‘hidden agenda’ for the presentation.6 Of course, the patient may be depressed (overt or 1 Interpersonal conflict in the family
masked) or may have a true anxiety state. However, a presenting symptom such as tiredness may 2 Identification with sick or deceased friends
represent a ‘ticket of entry’ to the consulting room.7 It may represent a plea for help in a stressed
3 Fear of malignancy
or anxious patient. We should be sensitive to patients’ needs and feelings and, as listening,
caring, empathetic practitioners, provide the right opportunity for the patient to communicate 4 STIs, especially AIDS
freely. 5 Impending ‘coronary’ or ‘stroke’
Deep sexual anxieties and problems, poor self-esteem, and fear of malignancy or some other 6 Sexual problem
medical catastrophe are just some of the reasons patients present to doctors. 7 Drug-related problem
The patient with a self-induced bruising (see FIG. 9.4 ) was a health professional who Page 77 8 Crippling arthritis
was deeply attracted to an inpatient haematologist (Munchausen syndrome). 9 Financial woes
10 Other abnormal stresses
In the author’s experience of counselling patients and families, the number of problems caused
by interpersonal conflict is quite amazing and makes it worthwhile to specifically explore the
quality of close relationships, such as those of husband–wife, mother–daughter and father–son.
Diagnostic triads for some ‘masquerades’
DxT malaise + fever + cough (± erythema nodosa) → TB or
sarcoidosis
DxT fever + sore throat + cervical lymphadenopathy → EB
mononucleosis
DxT fatigue + a/n/v + sallow skin → chronic kidney failure
DxT polyuria + polydipsia + skin/orifice infections → diabetes mellitus
DxT FUO + cardiac murmur + embolic phenomena → infective
endocarditis
DxT fatigue + polyarthritis + fever or skin lesions → SLE
DxT loin pain + haematuria + palpable loin mass → kidney carcinoma
DxT malaise + weight loss + cough → lung carcinoma
DxT fever + myalgia/headache + non-productive cough → atypical
pneumonia
DxT malaise + night sweats + painless lymphadenopathy → non-
Hodgkin lymphoma
DxT arthralgia + Raynaud phenomenon + GORD (± skin changes) →
systemic sclerosis
DxT fatigue + headache + jaw claudication → temporal arteritis
DxT weakness + back pain + weight loss → multiple myeloma
DxT lethargy + physical/mental slowing + constipation →
hypothyroidism
Note: Diagnostic triads for neurological dilemmas are included in
CHAPTER 22 .
Page 78
Another common yet overlooked stressor is bullying,8 whether it is in the workplace,
school, university, home, internet or elsewhere. It is a significant public health issue. The current
fashion for tough, dynamic, ‘macho’ management styles has created a culture in which bullying
can thrive. As GPs, we should be more aware of the possibility that workplace bullying may be
contributing to the stresses with which many patients present. A simple, direct, routine question
such as ‘How are things at work?’ can create an opportunity to raise the issue.
Identification and transference of illness, symptoms and death, in particular, are important areas
of anxiety to consider. Patients often identify their problems with relatives, friends or public
personalities who have malignant disease. Other somatoform disorders and the factitious
disorders, including the fascinating Munchausen syndrome, may be obvious or extremely
complex and difficult to recognise. Consider also ‘Munchausen by proxy’ where carers
intentionally produce or feign symptoms in the person (child or elderly patient) in their care.
These subtle psychosocial issues are usually termed ‘yellow flags’.
Yellow flags7
Yellow flags are signs or behaviours that flag or indicate a psychosocial barrier to
recovery. They have been described originally within the framework of chronic pain
and disability, especially chronic back pain, and require a shift in our focus of care.
Conditions to consider are anxiety, depression, adjustment disorder and personality
disorder. Typical yellow flags are presented in TABLE 9.7 .
Table 9.7 Yellow flags: examples
Abnormal illness behaviour
Devious behaviour
Cancelling appointments
Treatment non-compliance/refusal
Somatisation
Absenteeism from work
Poor work performance
Personal neglect
Relationship breakdown
Law and order incidents
A survey by researchers at Melbourne’s Centre for Behavioural Research9 revealed that the three
most feared diseases are cancer (81%), heart disease (32%) and HIV/AIDS (21%).
The bottom line is that patients are often desperately searching for security and we have an
important role to play in helping them.
 5 Is the patient trying to tell me something?
Some examples of application of the model
Emotional causes always to be considered
Page 79

Hiccough
Halitosis
1 Probability diagnosis
(see CHAPTER 61 )10
Food and alcohol excess
Psychogenic/functional
1 Probability diagnosis
Postoperative
Dietary habits—odour-causing foods, e.g. garlic
gastric distension
Poor oral hygiene
phrenic nerve irritation
Orodental disease, e.g. gingivitis, dental abscess
2 Serious disorders not to be missed Dry mouth (e.g. on waking)
Neoplasia Smoking/alcohol
CNS
2 Serious disorders not to be missed
neck
Malignancy: lung, oropharynx, larynx, stomach, nose, leukaemia
oesophagus
Pulmonary tuberculosis
lung
Quinsy
Subphrenic abscess
Oral candidiasis
Myocardial infarction/pericarditis
Lung abscess
CNS disorders (e.g. CVA infection)
Blood dyscrasias/leukaemia
Chronic kidney failure
Uraemia
3 Pitfalls Hepatic failure
Alcohol excess
3 Pitfalls
Smoking
Nasal and sinus infection
Aerophagy
Systemic infection
Gastrointestinal disorders
Appendicitis
oesophagitis
Bronchiectasis
peptic ulcer
Hiatus hernia
hiatus hernia
Starvation
cholecystitis
Rarities
hepatomegaly
Pharyngeal and oesophageal diverticula
Rarities:
Sjögren syndrome
sudden temperature change
Scurvy
neck cysts and vascular abnormalities
4 Seven masquerades checklist
4 Seven masquerades checklist
Depression
Drugs
Diabetes: acidosis (acetone)
 Drugs 2001; 30(7): 636–40.
5 Is the patient trying to tell me something? 6 Levenstein JH et al. The patient-centred method. I. A model for the doctor–patient
Possible manifestation of psychogenic disorder interaction in family medicine. Fam Pract, 1986; 3: 24–30.
Halitophobia 7 Main CJ, Williams AC. ABC of psychological medicine. BMJ, 2002 (Sept 7); 325: 534–7.

Page 80 8 McAvoy BR, Murtagh J. Workplace bullying: the silent epidemic. Editorial. BMJ, 2003;
326: 776–7.
Practice tips 9 Borland R et al. Illnesses that Australians fear most in 1986 and 1993. Australian Journal
of Public Health, 1994; 18: 366–9.
Follow the ‘baseball rule’ for a delayed or puzzling diagnosis: ‘Three strikes and
you’re out’. 10 Halitosis in oral and dental [published 2018 Dec]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2018 Dec. www.tg.org.au, accessed
Infarction—think fast! December 2019.
acute coronary events: 60–90 minutes

stroke: 3–4 hours

femoral artery: 4 hours

torsion of testis: 4–6 hours

Patient education resources

Hand-out sheets from Murtagh’s Patient Education 8th edition:

Bullying of children

Bullying in the workplace

References
1 Murtagh J. Common problems: a safe diagnostic strategy. Aust Fam Physician, 1990; 19:
733–42.

2 Frith J, Knowlden S. Undifferentiated illness. Med J Aust, 1992; 156: 472–6.

3 Tye-Din J. Finding the hidden coeliac chameleon. MJA Insight, 27 March 2017; 11: 1–8.

4 Nixon R. Cutaneous manifestations of coeliac disease. Australas J Dermatol, 2001; 42:

136–8.

5 Hanrahan P. The great pretender: systemic lupus erythematosus. Aust Fam Physician,
 Page 81 There are six clusters of depressive symptoms:

mood, e.g. sadness, anhedonia, irritability

vegetative, e.g. sleep, appetite, sexual drive

10 Depression cognitive, e.g. attention, memory, self-worth

impulse control, e.g. suicide, anger, homicide

behavioural, e.g. motivation, interests, tiredness

I am ignorant and impotent and yet, somehow or other, here I am, unhappy, no doubt, physical, e.g. headaches, constipation
profoundly dissatisfied... In spite of everything I survive.
A useful working rule is to consider depression as an illness that dampens the five basic innate
activities of humans:
ALDOUS HUXLEY (1894–1964)
energy for activity
Depressive illness, which is probably the greatest masquerade in general practice, is one of the
commonest illnesses in medicine and often confused with other illness. Untreated, depression sex
can result in disability and death.1 The most feared outcome is suicide. It is present in at least
17% of patients who present to GPs2 and has a 12-month prevalence of 5% and a lifetime risk of sleep
15%.3 It is often unrecognised,1 yet moderate to severe depression is as disabling as congestive
heart failure1 and with a morbidity comparable to coronary heart disease. Further, depression is appetite and thirst
the leading cause of disability for all conditions among both sexes, both in Australia and
elimination of waste
worldwide.4,5 The lifetime risk of suicide in patients diagnosed with depression is 6% and
treatment halves this risk.1
Classification
Despite being treatable, 60% of sufferers have not used any form of health service in the
previous months.4 Lack of awareness, stigma and shame on behalf of the patient contribute to The DSM-5 classification divides depressive disorders into major depressive disorder (MDD),
this. Of those receiving treatment, three-quarters will be managed in general practice.5,6 As disruptive mood dysregulation disorder, persistent depressive disorder (PDD) and
Whiteford4 notes: premenstrual dysphoric disorder. Other ‘specified’ and ‘unspecified’ disorder categories allow
for diagnosis of those patients who fall short of the various diagnostic criteria.
It is clear that the main focus of activity aimed at reducing the burden of common mental health disorders in
Australia is in primary care. Specialist mental health services play a supporting, but not central, role.
MDD includes those disorders with one or more major depressive episodes. Excluding criteria
Depression is a chronic relapsing organic brain disease. Its mean onset is at 27 years of age. include any previous mania or hypomania, and the episode not being attributable to a
However, 40% of sufferers present by 20 years of age.7 The average duration of episodes is 3–4 psychotic disorder, or a substance or medical condition.
months and 40% of patients will relapse within a 12-month period.7
MDD is subclassified with coded course and severity specifiers. These include mild,
The cause of depression is multifactorial, having biological, psychological and social factors. moderate and severe (see TABLE 68.1 ),8 with psychotic features, in partial remission and
Mood disorders in general have a strong familial tendency, and the risk of developing a in full remission.
depressive disorder can be thought of in terms of a ‘stress-vulnerability model’. That is, an
A significant subtype of depression is dysthymia, which is a chronic mild depression Page 82
individual may have a genetically determined vulnerability and if enough stress is endured a
mood disorder may result. Those who are more genetically vulnerable require less stress, but if lasting at least 2 years but not fulfilling the criteria for MDD. For other subtypes, refer
to CHAPTER 68 .
enough stress is applied, any individual can develop a mood disorder. A significant characteristic
is that it impairs thinking, leading to pessimism with negativity and a loss of drive and
productivity. The diagnostic approach
The diagnosis is based on the history and the mini mental state examination. Two particularly good questions are:

The two key criteria for major depressive disorder (MDD) in the DSM-5 are a pervasive
depressed mood and marked loss of interest or pleasure (otherwise referred to as anhedonia)
persisting for at least 2 weeks. Other criteria (listed below) include sleep issues, fatigue, lack of
energy, poor concentration and feelings of worthlessness.
In a general practice setting, having a checklist of these symptoms to work through with a patient
can be a useful part of the assessment of the depressed patient.
Questions to assess level of depression
What do you think is the matter with you?
In the past month, have you been bothered by the fact that you feel down, depressed or
hopeless?
In the past month, have you often been bothered by the fact that you have little interest or
pleasure in doing things?
Rule out other mental disorders
Enquire about substance use and abuse, anxiety, psychosis, manic/hypermanic episodes, intimate
partner violence, bereavement and postpartum depression.

Do you think that your feelings are possibly caused by nerves, anxiety or depression?
Important differentiated diagnoses (organic disease)
Can you think of any reason why you feel this way? Important differential diagnoses (organic disease) to consider are malignancy (especially of lung,
brain, pancreas and blood/lymphatics), early dementia, CCF, endocrine disorders (e.g. thyroid
Do you feel down in the dumps? disease), menopause, liver and renal failure, infections (e.g. mononucleosis), neurological (e.g.
MS, Parkinson), adverse effects of medication, anaemia, SLE and cerebrovascular disease.
Do you feel that you are coping well?

Do you have any good times? Diagnostic guidelines for major depressive disorder9
Has anything changed in your life? At least 5 of the following 9 symptoms with anhedonia and/or depressed mood for ≥
2 weeks:
How do you sleep? Do you wake early?
Depressed mood
What time of the day do you feel at your worst?
Anhedonia (decreased interest/pleasure)
Where would you put yourself between 0% and 100% (a visual analogue scale is useful here)?
Sleep change: increased/decreased
Have you felt hopeless?
Guilt/worthlessness
Do you brood about the past?
Decreased energy
What is your energy like?
Impaired/increased concentration
What is your appetite like?
Changer of appetite and weight
Are you as interested in sex as before?
Psychomotor retardation or agitation
Do you feel guilty about anything?
Suicidal ideation
Do you feel that life is worthwhile?

Has the thought of ending your life occurred to you?

Screening investigations to consider
Do you cry when no one is around (especially useful for children)?
FBE; TFTs; U&Es; vitamins B, D, folate; blood glucose; urine toxicology; CT or MRI.
Depression scales
Depression scales are useful both to detect potential mood disorders (i.e. screening) and to
monitor an individual patient over time. Scales commonly used include K10 (a distress score),
DASS 21 or 42 (for depression and anxiety symptoms) and PHQ 2.
Somatisation
Page 83
Another issue with depression in the primary care setting is recognising somatising
patients who present without obvious psychological symptoms. Non-specific symptoms such as
insomnia, prolonged fatigue, headache, nausea and musculoskeletal pain are common
presentations in people with depression.10 Studies suggest GPs find it challenging to identify
these patients, and that using self-reporting patient-screening tools can help with identification.3
Key facts and checkpoints
Depression is common, serious and treatable.
Depression is a chronic relapsing organic brain disease.
It may coexist with anxiety disorders, stress (physical and mental) and substance
abuse disorders.
1 million Australians live with depression (compared with anxiety, which is 2
million) and 8 lives are taken every day, of which 6 are men.11
The cause of depression is multifactorial, and can be thought of in terms of a
‘stress-vulnerability model’.
Somatising patients without obvious psychopathology are common and difficult to
recognise and manage.
It is strongly associated with an increased risk of suicide, a fact that demands risk
assessment.
Depression in the elderly
The rate of antidepressant prescribing for Australians over 80 years of age is higher than for any
other age group.12 Despite this, depression in the elderly is underdiagnosed.13 Depression can
have bizarre features in the elderly and may be misdiagnosed as dementia or psychosis. Agitated
depression is the most frequent type of depression in the aged. Features may include histrionic
behaviour, delusions and disordered thinking.
Depression is often missed in the elderly because it is atypical and less expressive, and patients
tend to be ashamed and reluctant to admit it.
A useful clue can be a change in sleep pattern. Medical illness is also an important precipitant of
depression in the elderly.
Older patients may have more side effects from medications (especially nausea, dizziness, falls
and hyponatraemia).13 They also tend to have only a modest response to antidepressants, and, if
medication is used, a low initial dose and slow increase is recommended.1 Psychological
therapies can be useful, but tend to be underused.13
Depression in children and adolescents
Sadness is common in children, but depression, although not as common, does occur and is
characterised by feelings of helplessness, worthlessness and despair. Parents and doctors both
tend to be unaware of depression in children.14
Major depression in children and adolescents may be diagnosed using the same criteria as for
adults, namely loss of interest in usual activities and the presence of a sad or irritable mood,
persisting for 2 weeks or more. In children, irritability may be more prominent than sadness.15
The other constellation of depressive symptoms, including somatic complaints, may be present.
Examples include difficulty in getting to sleep, not enjoying meals, poor concentration and low
self-esteem. Poor motor skills and family instability are an association. Depression can present as
antisocial behaviour or as a separation anxiety (e.g. school refusal). Although suicidal thoughts
are common, suicide is rare before adolescence.
Depressed adolescents are a difficult challenge for the general practitioner. Effective engagement
and establishing rapport in a ‘youth-friendly’ environment is critical.16
See CHAPTER 90 for the evaluation and treatment of depression in adolescents.
Perinatal depression
This term refers to depression occurring either in the antenatal period or in the 12 months after
delivery. It affects 9% of women during pregnancy and 16% after the birth17 and affects the
well-being of the woman, the baby and significant others. Anxiety is likely to be as or more
common.17 Women at risk of perinatal depression include those with previous mental health
problems, those who do not have support and those who have been through difficult times (e.g.
family problems, abuse or loss) or who feel isolated either by distance or culture or both.
Because it is so prevalent, routine screening is recommended by the Beyond Blue guidelines.
This involves implementing the use of the Edinburgh Postnatal Depression Scale (EPNDS), a
validated screening tool, at least once, preferably twice, both antenatally and postnatally. Asking
permission and explaining the process before implementing the screening is helpful. Women at
higher risk will require more intense screening and monitoring.
If perinatal depression is identified, the GP should take into account the individual Page 84
woman’s context, her family and cultural setting, and use a family-centred approach.
Because of the intense emotions involved in having a baby, establishing a strong therapeutic
relationship, using an open collaborative approach and active listening techniques, will help to
develop trust, confidence, mutual respect and empowerment. Psycho-education should be
provided and appropriate follow-up and continuity of care, with (if appropriate) a coordinated
team approach.
If a woman or a baby is at risk, urgent referral is recommended. Pharmacological therapies can
be used in pregnancy, but the benefits need to be balanced against the risks to both mother and
fetus. Psychosis in perinatal depression is fortunately rare but does occur, and requires urgent
psychiatric assessment. Refer to CHAPTER 101 .
Management of depression
Important considerations from the outset are:
Is the patient a suicide risk?
Does the patient require inpatient assessment?
Is referral to a specialist psychiatrist indicated?
Suicide assessment
Data from the Australian Bureau of Statistics illustrate the levels of suicide in Australia over the
10 years to 2019:18
Intentional self-harm (suicide) is the 13th leading cause of death in Australia, but the 10th
leading cause in males
75% of all suicide deaths in Australia were males
The national rate is 12.9 suicides per 100 000 people
The rate of suicide in men has risen over this period from 17.5 per 100 000 to 19.8, and in
women, from 5.0 to 6.3
The median age of people who suicide is in their early to mid-40s
If the symptoms are major and the patient appears in poor health or is a suicide risk, referral is
appropriate.
The importance of putting these safety issues at the beginning of the management process is
reflected in the SET A PACE7 model of treatment, proposed by Mahli et al.
To clarify the risk of suicide and appropriate response, ask about:16
suicidal thoughts
plan
lethality
means
past history
suicide of family member or peer
Low risk (fleeting thoughts of self-harm or suicide but no current plan
or means):
Discuss availability of support and treatment options.
Arrange follow-up consultation (timing of this will be based on clinical judgment).
Identify relevant community resources and provide contact details.
Medium risk (suicidal thoughts and intent but no current plan or
immediate means):
Discuss availability of support and treatment options.
Organise reassessment within 1 week.
Have contingency plan in place for rapid reassessment if distress or symptoms escalate.
Develop a safety plan (a prioritised written list of coping strategies and sources of support to
use when experiencing suicidal thinking).
High risk (continual/specific suicidal thoughts, intent, plan and
means):
Ensure that the person is in an appropriately safe and secure environment.
Organise reassessment within 24 hours and monitoring for this period.
Follow-up outcome of assessment.
A useful suicide risk assessment is the SAD PERSONS (mnemonic) index (see TABLE 10.1 ). A
score greater than 7 represents a very high risk that demands careful attention, including referral
to an acute psychiatric service. The suicide rates in Australia, which demonstrate two peaks in
males, are illustrated in FIGURE 10.1 .
 provide closer supervision and considerable support, and prescribe drugs that are less
toxic in overdosage (e.g. mianserin or fluoxetine). If tricyclics are prescribed, useful guidelines
Table 10.1 SAD PERSONS index: suicide risk assessment are that dangerous medical complications occur with an equivalent dosage of 1000 mg (40
tablets) or imipramine and a high risk of death with 2000 mg (80 tablets).15
Risk factor Criteria Score
After safety is established (and this will need to be continually reassessed at each consultation),
Sex Male 1 the two other aspects that need to be developed early in the process (and also continue on
Age <20 years; >45 years 1 through the long-term management of the patient) are educating the patient about his or her
condition and individual situation, and establishing a therapeutic relationship.
Depression Major (e.g. depressed mood) 2
Psychiatric history Previous attempts 1 Assessment includes:
Excessive drug use Ethanol or other drug use 1 characterising the symptom profile
Rationality loss Psychosis, severe depression 2
calibrating the severity and chronicity—rating scales can be employed here
Separated Loss of spouse or other single 1
Organised plan Determined suicide plan 2 corroborating (if possible and appropriate) medical and psychiatric comorbidities and
context. Significant psychiatric, physical and social comorbidities of depression are common.
No supports No community back-up; generally isolated 1 These include 49% suffering an anxiety disorder, 40% reporting child sexual abuse, 57% child
Sickness Chronic illness 1 physical abuse, 42% having been at some stage afraid of their partner and 72% reporting a
chronic physical condition.20 Putting the patient’s condition into his or her individual
psychosocial and medical context will improve the assessment
Score >7 = high suicide risk

considering coping styles, and the social, financial and occupational consequences of the
patient’s condition and situation

This assessment is often spread over multiple consultations.

Treatment
The basic treatments are outlined by the acronym PACE (which purposefully places priority on
the psychological treatments—see FIG. 10.2 ). These are:

FIGURE 10.1 Death from intentional self-harm (suicides) in Australia, 2010–

2019, as a whole and by sex

Source: Australian Bureau of Statistics17

Notes: Age-standardised death rate. Death rate per 100 000 estimated resident population as at 30 June (mid year). See the Data
quality section of the methodology for further information on specific issues related to interpreting time-series and 2019 data. Care
needs to be taken when interpreting data derived from Victorian coroner-referred deaths including suicide. Changes in coding
processes have been applied to 2019 data.

If there is concern about suicide risk and treatment is supervised outside hospital, Page 85
 FIGURE 10.2 The SET A PACE model of treatment of depression SSRIs
citalopram 20 mg (10 mg >65 years) 40 mg (20 mg
Source: Reproduced with permission from Malhi GS, Adam D, Porter R et al. Clinical practice recommendations for depression.
Acta Psychiatr Scand Suppl. 2009; 439: 8–26. >65 years)
escitalopram 10 mg 20 mg
Psychological, including basic psychological treatments, such as advice on lifestyle changes,
problem solving, guided self-help, structured supervised exercise and supportive fluoxetine 20 mg 80 mg
counselling.1,6 All patients with depression should be offered these types of support.1,16 More fluvoxamine 50 mg (at night), then 300 mg
sophisticated techniques, such as cognitive behaviour therapy (CBT) or interpersonal therapy 100 mg after 5–7 days
(IPT), may be used for selected patients7 and should be undertaken only by appropriately
paroxetine 20 mg 60 mg
trained doctors or therapists.6 Another option that some patients may prefer is computer-based
cognitive behaviour therapy (CBT) programs.13 CBT involves teaching patients new ways of sertraline 50 mg, then 100 mg after 5– 200 mg
positive thinking, which have to be relevant and achievable for the patient (see CHAPTER 4 ). 7 days
Patients need to be able to recognise their own negative cognitions, including their anxieties SNRIs
and worries.
desvenlafaxine 50 mg 200 mg
Antidepressants: antidepressant medication is useful in moderate to severe Page 86 (controlled-release)
depression (see TABLE 10.2 ), or when depression has an anxiety disorder duloxetine 60 mg 120 mg
codiagnosis.13 Antidepressant therapy should be avoided if bipolar disorder is suspected, and
venlafaxine 75 mg 375 mg
screening should be actively conducted for symptoms of past or previous mania.13
(controlled-release)
In terms of which drug to use, there is no single drug that is preferred. Most antidepressant Other
agents are approximately equal in efficacy, although individual patient response may vary
mirtazapine 15–30 mg (at night) 60 mg
considerably.21 However, selective serotonin reuptake inhibitors (SSRIs) are considered to
have the most favourable balance of benefit to harm in moderate to severe depression.13 agometaline 25 mg (at night) 50 mg
Sexual dysfunction and gastrointestinal side effects are common.7 The most toxic agents reboxetine 2–4 mg (bd) 10 mg
are the tricyclic antidepressants (TCAs) and the monoamine oxidase inhibitors (MAOIs).
Other suitable first-line agents are reboxetine (common side effects include hypersomnia,
Page 87
fatigue and nausea) and mirtazapine (which can cause weight gain and drowsiness).7 SSRIs The benefit of medication in moderate depression is equivalent to psychological
have a relatively flat dose–response curve, but dose increase within the recommended therapies such as CBT/IPT and both of them are around 20% more likely to achieve remission
range is reasonable if there is a partial response at a lower dose and no troublesome side than placebo.1 In severe depression, medication is more effective than psychological therapies
effects. (see FIG. 10.3 ), though the latter in addition may help reduce relapse rates once remission is
Combining different antidepressants or augmentation with lithium or antipsychotics should achieved by medication.1,6
be done with psychiatrist supervision.7

Serotonin and noradrenaline reuptake inhibitors (SNRIs) appear to be more effective in

treating severe depression symptoms (and may be a suitable first-line option here) but
otherwise adverse effects may limit them to second-line treatment.7 TCAs and MAOIs are
considered second-line because of their side effect profiles.14

Table 10.2
First-line pharmacological treatment options for depression15

Drug Usual initial dose Maximum dose

 psychotic depression (e.g. delusions, hallucinations)

melancholic depression unresponsive to antidepressants

severe postnatal depression and psychosis

substantial suicide risk

ineffective antidepressant medication and/or previous response to ECT

severe psychomotor depression: refusal to eat or drink, depressive stupor, severe personal
neglect

Immediate referral for hospital admission is necessary in most of these circumstances. The
course, which is highly variable and individually tailored, is about 8–12 sessions given at 1–3
sessions a week. The most common initial ECT method is unilateral therapy.1

Transcranial direct current electro-magnetic stimulation, where no anaesthetic is required, is a

procedure being explored as a less invasive alternative to ECT.22

Page 88

Useful management guidelines

FIGURE 10.3 Antidepressant vs placebo drug effect on depression19 Mild depression: psychological therapy

The aim of treatment of depression is to achieve and maintain remission.1 Remission is defined Moderate depression: psychological therapy and/or antidepressants
as having minimal or no symptoms of depression,7 and a good way of asking patients about this
is to ask ‘Do you think you are back to your normal self?’. Severe depression: antidepressants, and consider addition of psychological
therapy to maintain remission. Consider psychiatric review, ECT.
When using antidepressants, if a response is not evident in the first 2 weeks or there is an
inadequate response in 6 weeks, then it is unlikely that this medication will work for this patient,
and a treatment change is recommended.7 A washout period will be required before a second
medication is tried. Patients need close monitoring early on in the course of treatment, and When to refer
weekly monitoring may be helpful.13 If remission is not achieved in 3 months, then consider a
second opinion and continue active treatment.7 Uncertainty about diagnosis

A combination of antidepressants and psychological therapy can be considered if there is an Inpatient care obviously necessary
inadequate response to either therapy alone. Combining medication with psychological
Severe depression
therapy is more effective than either therapy alone in moderate or severe depression.7
Inability to cope at home
ECT (electroconvulsive therapy) is a relatively safe and effective therapy for severe or
resistant depression. There is some risk of transient short-term cognitive impairment and long- Psychotically depressed (with delusions or hallucinations)
term memory impairment, and this therapy is reserved for severe depression when
pharmacotherapy has failed;7 it is administered under the supervision of a psychiatrist. Substantial suicide risk
Possible indications include: Failure of response to routine antidepressant therapy
 Associated psychiatric or physical disorders
Depression in the elderly can be a difficult problem—where diagnosis including dementia is
doubtful
Children with apparent major depression
Choice of treatment
The choice of treatment should be determined together by doctor and patient, and the best
outcomes are likely when a good therapeutic alliance is formed6 and patient preferences are
taken into account.13 To quote the RANZCP guidelines: ‘Of greatest benefit is the therapeutic
relationship, which enables agreement on treatment selection and continuation.’1 A strong
determining factor on patient preference may be the patient’s own previous experience of
treatments, or his or her perceptions of treatment results in other people they know or potential
adverse effects of the proposed treatment.13
Whatever treatment is chosen by the doctor and patient working together, the choice is less
important than persisting with treatment. As the Beyond Blue guidelines state, it is ‘not so much
what you do but that you keep doing it’.6 This is why consistent follow-up and monitoring is so
beneficial.
Complementary and alternative therapies
Complementary and alternative therapies are widely used for depression. It is estimated that only
50% of Australians who are depressed receive an evidence-based professional intervention.23 A
large driver for this is the public’s belief in complementary and alternative therapies. One study24
showed 57% regarded vitamins, minerals, tonics or herbal medicines as likely to be helpful for
treating depression, compared with 29% who regarded antidepressants as likely to be helpful.
Despite this, none of these therapies is supported by evidence, though some warrant further
evaluation.25 Because of their common usage (nearly half of Australians have used a
complementary medicine in the previous 12 months),25 actively enquiring about use of any
complementary and alternative therapies in patients with depression is advised.
One of the more commonly used and extensively researched alternative therapies is St John’s
wort (Hypericum perforatum), which has had mixed results in the research on its effectiveness.
One review of the literature suggests it is effective in mild to moderate depression,26 though two
others suggest it is not.27,28
Regardless of its effectiveness (or not), it has a lot of medication interactions. These include HIV
medicines, warfarin, digoxin, anticonvulsants, oral contraceptives and triptans.21 Because of this,
care needs to be taken with using St John’s wort, including when switching between different
preparations that may contain different amounts of active compound.19
Serotonin syndrome
While rare, serotonin syndrome is a serious adverse reaction to the use of SSRIs and other
serotonergic medications, including St John’s wort.
Symptoms must coincide with the introduction or dose increase of a serotonergic agent. Drugs
to be considered here include antidepressants, opioids (especially tramadol), stimulant drugs,
illicit drugs, anti-emetics, lithium and selegiline.
Other causes, such as infection, substance abuse or withdrawal, must be excluded.
At least three of the symptoms or signs attributed to the syndrome must be present, Page 89
e.g.:
mental status/behaviour changes (e.g. agitation, confusion, hypomania, seizures)
altered muscle tone (e.g. tremor, shivering, myoclonus, hyper-reflexia)
autonomic instability (e.g. hypertension or hypotension, tachycardia, fever, diarrhoea)
The offending agents should be withdrawn immediately and supportive therapy initiated; refer to
an emergency department.
Continuing treatment
If antidepressant medication is used and remission achieved, it is recommended that it be
continued for a minimum of 12 months for an initial episode, and for 2–3 years in subsequent
episodes or in those at high risk of relapse.1,13 Risk factors for relapse include:7,13
residual depressive symptoms
2 or more prior episodes in the past 5 years
3 or more prior episodes
history of severe or prolonged depression (especially with psychosis or attempted suicide)
comorbid medical problems
life stressors
When remission is achieved, and the treatment is in the maintenance phase, ongoing monitoring
of treatment effectiveness, tolerability and adherence is recommended.7 Encouragement to
persist with the treatment will improve compliance.1 When ceasing medication, withdrawal
reactions are common, so a gradual withdrawal by halving the dose each week may help reduce
these.1

References
1 Australian and New Zealand clinical practice guidelines for the treatment of depression.
Australian and New Zealand Journal of Psychiatry, 2004; 38: 389–407.
2 Goldberg D. Epidemiology of mental disorders in primary care settings. Epidemiol Rev,
1995; 17: 182–90.
3 Wilhelm K et al. What can alert the general practitioner to people whose common mental
health problems are unrecognised? Med J Aust, 2008; 188(12): 114–18.
4 Whiteford HA. Depression in primary care: expanding the evidence base for diagnosis and
treatment. Med J Aust, 2008; 188(12): 101–2.
5 Slade T et al. The Mental Health of Australians 2. Report on the 2007 National Survey of
Mental Health and Wellbeing. Canberra: Department of Health and Ageing, 2009.
6 Ellis P, Smith D. Treating depression: the beyondblue guidelines for treating depression in
primary care. Med J Aust, 2002; 176: S77–S83.
7 Mahli G et al. Clinical practice recommendations for depression. Acta Psychiatr Scand,
2009; 119(439): 8–26.
8 Blashki G, Judd F, Piterman L. General Practice Psychiatry. Sydney: McGraw-Hill
Education, 2007.
9 Diagnostic and Statistical Manual of Mental Disorders (DSM-5) (5th edn). Washington,
DC: American Psychiatric Association, 2013.
10 Goldman L, Nielson N, Champion H. Awareness, diagnosis and treatment of depression. J
Gen Intern Med, 1999: 14; 569–80.
11 Causes of death. Australian Bureau of Statistics, 26 September 2018. Available from:
http://www.abs.gov.au/Causes-of-Death.
12 Hollingworth S, Burgess P, Whiteford H. Affective and anxiety disorders: prevalence,
treatment and antidepressant medication use. Aust N Z J Psychiatry, 2010; 44: 513–19.
13 NPS News 78, April 2012. Depression—challenges in primary care. Available from:
www.nps.org.au/publications/health-professional/nps-news/2012/depression-challenges-
in-primary-care, accessed 31 December 2013.
14 Thomson K, Tey D, Marks M. Paediatric Handbook (RCH) (8th edn). Oxford: Wiley-
Blackwell, 2004: 192–6.
15 Depression in adults [published 2018]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2018. www.tg.org.au, accessed December 2019.
16 McDermott B et al. Clinical practice guidelines: depression in adolescents and young
adults. Melbourne: beyondblue: the national depression initiative, 2011: 143.
17 Austin M-P, Highet N and the Guidelines Expert Advisory Committee. Clinical practice
guidelines for depression and related disorders—anxiety, bipolar disorder and puerperal
psychosis—in the perinatal period. A guideline for primary care health professionals.
Melbourne: beyondblue: the national depression initiative, 2011.
18 Intentional self-harm (suicides), key characteristics. Causes of Death, Australia, 2019.
Australian Bureau of Statistics. Available from:
https://www.abs.gov.au/statistics/health/causes-death/causes-death-australia/latest-
release#intentional-self-harm-suicides-key-characteristics, accessed February 2021.
19 Fournier et al. Antidepressant drug effect and depression severity: a patient-level meta-
analysis. JAMA, 2010; 303: 47–53.
20 Gunn J et al. Who is identified when screening for depression is undertaken in general
practice? Baseline findings from the Diagnosis, Management and Outcomes of Depression
in Primary Care (diamond) longitudinal study. Med J Aust, 2008; 188(12): S199–25.
21 Buckley N (Chair). Australian Medicine Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2018: 821–2.
22 Fitzgerald P. Transcranial direct current stimulation. Med J Aust open 2012: Supplement
4: 148–151
23 Andrews G et al. Why does the burden of disease persist? Relating the burden of Page 90
anxiety and depression to effectiveness of treatment. Bull World Health Organ,
2000; 78: 446–54.
24 Jorm A et al. ‘Mental health literacy’: a survey of the public’s ability to recognise mental
disorders and their beliefs about the effectiveness of treatment. Med J Aust, 1997; 166:
182–6.
25 Jorm A et al. Effectiveness of complementary and self-help treatments for depression. Med
J Aust, 2002; 176: S84–96.
26 Linde K. St John’s wort—an overview. Forschende Komplementärmedizin: Research in
Complementary Medicine, 2009; 16(3): 146–55.
27 Linde K, Berner M, Kriston L. St John’s wort for major depression. Cochrane Database
Syst Rev. 2009; (4): CD000448. Available from: www.thecochranelibrary.com, accessed
11 January 2014.
28 National Institute of Mental Health. Depression. Available from:
www.nimh.nih.gov/health/publications/depression/index.shtml, accessed 11 January 2014.
 Page 91 Type 1 is also known as juvenile onset diabetes or insulin dependent diabetes mellitus
(IDDM).

Type 2 is also known as maturity onset diabetes or non-insulin dependent diabetes mellitus
(NIDDM).
11 Diabetes mellitus Type 1 has an autoimmune causation which is also responsible for a late-onset form known as
late onset autoimmune diabetes in adults (LADA).

Diabetes: a real masquerade

Those labouring with this Disease, piss a great deal more than they drink. Authors who affirm
the drink to be little or nothing changed are very far from the truth, because the urine very much
differed both from the drink taken in and also in being wonderfully sweet as if it were imbued
with honey or sugar.
THOMAS WILLIS (1621–1675), THE PISSING EVIL
Diabetes comes from a Greek word meaning ‘to pass or flow through’ (i.e. excessive urination)
and mellitus means ‘sweet’. It is a disease caused by a relative or absolute deficiency of insulin.
There are two main types of diabetes (see TABLE 11.1 ).
The onset of type 2 diabetes can be subtle and by stealth. In 2014–15, around 1.2 million (5%)
Australians had diagnosed type 2 diabetes1 and another 500 000 (2.1%) were estimated to have
type 2 diabetes but were not yet diagnosed.2 A further 2 million (8.4%) had impaired fasting
glucose or impaired glucose tolerance. Around half of those with type 2 diabetes have
complications (when microalbuminuria is included), many of whom already have a complication
at the time of diagnosis. The challenge for GPs is to be on constant lookout for these individuals,
especially those at risk. Type 2 diabetes is becoming more prevalent in industrial countries—due
to the ageing population, broadened diagnostic definitions and because our lifestyle encourages
us to ‘eat more and walk less’.3 Furthermore, roughly 60% of our population are overweight or
obese.
Complications occur in both type 1 and type 2 diabetes.

Several causes of secondary diabetes are uncommon (pancreatic disease; approx. 2.5%) or
Table 11.1 Clinical differentiation between type 1 and type 2 diabetes very uncommon (see TABLE 11.2 ).

Type 1 Type 2 Asymptomatic people at high risk of undiagnosed diabetes should be screened by blood
glucose or HbA1c measurement.
Relative frequency 10% 85–90%
(approx.)
Peak age incidence 10–30 years >40 years Table 11.2 Causes of secondary diabetes
Age of onset Usually young <20 Usually middle-aged >40
Onset Rapid Insidious/slow Pancreatic disorders (sometimes called ‘Type 3c diabetes’)
Chronic pancreatitis
Presentation Polyuria, polydipsia Milder symptoms, often
weight loss asymptomatic Endocrine disorders
Weight at onset Low (thin) High (obese) Cushing syndrome
Acromegaly
Ketoacidosis Yes Rare
Phaeochromocytoma
Familial Weak Strong Polycystic ovarian syndrome
Insulin status Deficient Resistant Haemochromatosis
Drug-induced diabetes (transient)
Note: These are generalisations and the clinical features may vary (e.g. patients with type 2 diabetes may be thin and have a rapid onset, or
present at an earlier age). Thiazide diuretics
Oestrogen therapy (high dose—not with low-dose HRT)
Corticosteroids
Other transient causes
Gestational diabetes
Medical or surgical stress

Key facts and checkpoints

In Australians older than 25 years the prevalence of diabetes is 7.5%, with
another 10.6% having impaired glucose tolerance.1

About 30% of those with impaired glucose tolerance will develop clinical diabetes
within 10 years.3

Many people with type 2 diabetes are asymptomatic.

Diabetes can exist for years before detection and complications may be evident.

Blood glucose may be temporarily elevated during acute illness, after trauma or
surgery.

(a)
(b)

(c)

FIGURE 11.1 Skin signs of diabetes: (a) Recurrent staphylococcus folliculitis,

(b) Candida albicans erosio interdigitalis, (c) Candida albicans balanitis

Clinical features
Page 92
The classic symptoms of uncontrolled diabetes are:

polyuria
 polydipsia polyphagia

loss of weight (type 1) tiredness/malaise/fatigue

tiredness and fatigue nocturia

propensity for infections, especially of the skin and genitals (vaginal thrush) Related general symptom review:

The young person with type 1 diabetes typically presents with a brief 2–10 week history of the cardiovascular (e.g. chest pain, dyspnoea)
classic triad of symptoms:
urinary function
DxT thirst + polyuria + weight loss → type 1 diabetes sexual function

neurological (e.g. tingling in feet/hands)

The first presentation of type 1 diabetes (typically an unwell child with a high finger-prick blood
glucose) is a medical emergency, requiring hospital assessment. Other possible symptoms are: vision (e.g. blurred)

infection tendency (e.g. skin, urine, genital)

genital itching

nocturnal enuresis (type 1) General:

blurred vision/visual changes family history

Symptoms of complications (may be presenting feature) include: medication

staphylococcal skin infections smoking and alcohol

polyneuropathy: tingling or numbness in feet, pain (can be severe if present) obstetric history (where applicable)

impotence Page 93 physical activity

arterial disease: myocardial ischaemia, peripheral vascular disease nutrition/eating habits

History Examination
The history from a person with suspected or known diabetes should cover the following features, The physical examination should ideally follow the protocol for annual review.
including assessment of cardiovascular risks and end-organ damage.
Initial screening for suspected diabetes should include:
Specific symptoms:
general inspection, including skin
polyuria
BMI (weight/height)
polydipsia
waist circumference
loss of weight
visual acuity
 blood pressure—lying and standing Polycystic ovarian syndrome, especially if overweight

test for peripheral neuropathy: tendon reflexes, sensation (e.g. cotton wool, 10 g Previous cardiovascular event
monofilament, Neurotips)
The optimal frequency is every 3 years from age 40 years using AUSDRISK
urinalysis: glucose, albumin, ketones, nitrites (www.diabetesaustralia.com.au/are-you-at-risk-type-2). If score ≥12, do fasting blood glucose or
HbA1c. Screen annually in very high-risk groups, including Aboriginal and Torres Strait Islander
Investigations people and those with ‘prediabetes’.5

Initial: fasting or random blood sugar, follow-up oral glucose tolerance test (OGTT) or Diagnosis
glycated haemoglobin (HbA1c) if indicated
Diabetes is diagnosed as follows:3,4
Other tests according to clinical assessment (e.g. lipids, kidney function, urine albumin–
creatinine ratio (ACR), ECG) 1. If symptomatic (at least two of polydipsia, polyuria, frequent skin infections or frequent
genital thrush):
Risk factors
fasting venous blood glucose (VBG) ≥7.0 mmol/L
Age >40 years
or
Family history
random VBG (at least 2 hours after last eating) ≥11.1 mmol/L
Overweight/obesity
or
Sedentary lifestyle
HbAIc >6.5% (>48 mmol/mol)
History of gestational diabetes, pancreatitis
2. If asymptomatic:
Women with polycystic ovarian syndrome (PCOS)
at least two separate elevated values, either fasting, 2 or more hours postprandial, or the two
Hypertension/ischaemic heart disease values from an oral glucose tolerance test (OGTT)

Medication causing hyperglycaemia Note: If random or fasting VBG lies in an uncertain range (5.5–11.0 mmol/L) in either a Page 94
symptomatic patient or a patient with risk factors (over 50 years, overweight, first-
Ethnic/cultural groups: Aboriginal and Torres Strait Islanders, Pacific Islanders, people from degree relative with T2D), perform an OGTT. The cut-off point for further testing is
Indian subcontinent, Chinese, Afro-Caribbeans 5.5 mmol/L.4,6

Screening (type 2)4
People with known impaired fasting glucose/glucose tolerance (‘prediabetes’)
Age >40 years, or younger age (e.g. >30 years) with: family history (first-degree relative with
T2D), obesity (BMI >30), high-prevalence ethnic groups
The 2-hour blood sugar on an OGTT is still the gold standard for the diagnosis of uncertain
diabetes, i.e. >11.1 mmol/L.
The OGTT should be reserved for true borderline cases and for diagnosing gestational diabetes,
where a 75 mg OGTT is recommended at 24–28 weeks’ gestation.7

Age >18 years in Aboriginal and Torres Strait Islander people Prediabetes
Previous gestational diabetes This is the condition where the VPG is elevated above the normal range (i.e. 6.1–6.9) but does
not satisfy the type 2 diagnostic criteria. It includes two states:
People on long-term steroids or antipsychotics
impaired fasting glucose (IFG)
 impaired glucose tolerance (IGT) Venous fasting up to 6.1–6.9 mmol/L ≥7 mmol/L
blood 6 mmol/L
A diagnosis of prediabetes is not a call to start medication, but it increases the urgency of glucose
promoting lifestyle changes such as weight reduction and increased physical activity. concentration
Urinalysis is unreliable in diagnosis since glycosuria occurs at different plasma glucose values in random up to ≥11.1 mmol/L
patients with different kidney thresholds. 6 mmol/L
Oral glucose 2-hour up to 7.8–11 mmol/L ≥11.1 mmol/L
For a summary of diagnosis of diabetic states, refer to FIGURE 11.2 . tolerance test venous blood 7.7 mmol/L
glucose
concentration
HbA1c ≥48 mmol/mol (6.5%

Diabetes in children
A study by Sinah and colleagues detected impaired glucose tolerance in 25% of 55 Page 95
obese children (4 to 10 years of age) and 21% of 112 obese adolescents (11 to 18 years of age).9
Type 2 diabetes was identified in 4% of obese adolescents. However, over 30% of newly
diagnosed diabetes in children and adolescents is upon presentation with diabetic ketoacidosis.
Children with type 1 diabetes usually exhibit the classic features of polyuria, polydipsia, weight
loss and lethargy. Be aware of unusual presentations such as urinary disorders including enuresis
or daytime wetting accidents when a misdiagnosis of urinary infection or some other condition is
sometimes forthcoming. The diagnosis can be made by an elevated random or fasting blood
sugar. Oral glucose tolerance tests are inappropriate in the very young. Upon diagnosis it is
appropriate to refer the child or adolescent to a multidisciplinary diabetes team. The sick child
with a high blood glucose is an emergency presentation of type 1 diabetes until proven
otherwise.

Gestational diabetes
Gestational diabetes is the new onset of abnormal glucose tolerance during pregnancy.
FIGURE 11.2 Blood glucose levels: venous plasma (mmol/L) Pregnancy is diabetogenic for those with a genetic predisposition. All pregnant women should be
screened at 24–28 weeks with a 75 g oral glucose tolerance test (OGTT). The definition of
Source: Reproduced with permission from RACGP. General Practice Management of Type 2 Diabetes: 2016–18. East Melbourne,
2016 (book available from: http://www.diabetesaustralia.com.au or http://www.racgp.org.au).
gestational diabetes mellitus (GDM) by the Australasian Diabetes in Pregnancy Society has
widened considerably in the past two decades, and far more women are captured by the lower
thresholds.10 The 2014 consensus definition of gestational diabetes is a fasting plasma glucose of
≥5.1 mmol/L, or a post-75 g oral glucose load at 1 hour ≥10.0, or at 2 hours 8.5–11.0. Refer to
Table 11.3 Interpreting diagnostic tests for diabetes8 CHAPTER 100 .

Intermediate Diabetes in the elderly

Test Normal Diabetes
hyperglycaemia
The incidence of diabetes rises with age. The elderly have increased mortality and morbidity
from the disease, but also are at increased risk from aggressive treatment regimens. Careful
monitoring is required, especially with adverse drug effects aggravated by polypharmacy and
comorbidities. Special issues include diet, foot care and postural hypotension.

Complications of diabetes
Complications may occur in patients with both type 1 and type 2 diabetes, even despite early
diagnosis and treatment (see FIG. 11.3 ).

FIGURE 11.3 The complications of diabetes

People with type 1 diabetes still have a significantly reduced life expectancy. The main causes of
death are diabetic nephropathy and vascular disease (myocardial infarction and stroke).
Diabetes causes both macrovascular and microvascular complications but microvascular disease
is specific to diabetes. Special attention should be paid to the association of type 2 diabetes with
obesity, hypertension and dyslipidaemia—the ‘deadly quartet’.6,11
Macrovascular complications include:
ischaemic/coronary heart disease
cerebrovascular disease
Nephropathy
Prevention of diabetic nephropathy is an essential goal of treatment. Early detection of the
yardstick, which is microalbuminuria, is important as the process can be reversed with optimal
control, particularly of blood pressure. The dipstick method is unreliable and the preferred
hospital method of 24-hour urine collection is considered impractical in general practice.
Screening is done simply by a first morning urine sample to determine the albumin–creatinine
ratio (see CHAPTER 79 ).
ACE inhibitors (or angiotensin II receptor blockers if a cough develops) should be used for
evidence of hypertension.

Page 96
peripheral vascular disease
Retinopathy and maculopathy
An analysis of type 2 diabetes in the HOPE study12,13 showed a benefit of ramipril to reduce the
risk of: Retinopathy develops as a consequence of microvascular disease of the retina. Its prevalence is
related to the duration of illness but up to 20% of people with type 2 diabetes have diabetic
death (24%) retinopathy at the time of diagnosis. The European multicentre study14,15 showed that diabetes is
the single most common cause of blindness in European adults in the 16–64 years age groups.
myocardial infarction (22%)
Assessment of the fundus by an expert is recommended every 1–2 years, via direct
stroke (33%) ophthalmoscopy (with dilated pupils), retinal photography or, if necessary, fluorescein
angiography. Early diagnosis of serious retinopathy is vital since the early use of laser
cardiovascular death (37%) photocoagulation may delay and prevent visual loss.

overt nephropathy (24%) Neuropathy

Consider organs/problems affected by diabetes under the mnemonic ‘KNIVES’: The following types of neuropathy may occur:
Kidney radiculopathy (diabetic lumbosacral radiculoplexopathy)
Nerves sensory polyneuropathy
Infection isolated or multiple mononeuropathy
Vessels isolated peripheral nerve lesions (e.g. median nerve)
Eyes cranial nerve palsies (e.g. III, VI)
Skin amyotrophy

Microvascular disease autonomic neuropathy, which may lead to:

The small vessels most affected from a clinical viewpoint are the retina, nerve sheath and kidney erectile dysfunction
glomerulus. In younger people it takes about 10 to 20 years after diagnosis for the problems of
diabetic retinopathy, neuropathy and nephropathy to manifest. postural hypotension and syncope

impaired gastric emptying (gastroparesis)

 diarrhoea
Several large studies have demonstrated it is possible to prevent or delay the onset of type 2
delayed or incomplete bladder emptying diabetes in those at risk.14,15 This involves intensive lifestyle intervention in individuals who are
overweight with impaired glucose tolerance or raised fasting blood glucose. The ongoing
loss of cardiac pain → ‘silent’ ischaemia DiRECT trial demonstrates that even once type 2 diabetes has been present for a few years,
remission of diabetes is a realistic aim in general practice, using intense dietary measures for 3
hypoglycaemic ‘unawareness’
months followed by structured support for weight loss management.16
sudden arrest, especially under anaesthetic
The primary strategy is to follow the SNAP guidelines (Smoking, Nutrition, Alcohol, Physical
Page 97 activity), particularly with a view to weight loss.17 The essentials are healthy eating, weight loss
and physical activity. This represents an important approach that GPs can recommend to their
Infections patients at risk. The enormous health gains that can be made in this prediabetic population by
concentrating on SNAP outweigh any later health gains from diabetes medication (see
People with poorly controlled diabetes are prone to infections, especially: CHAPTER 80 ).
skin: mucocutaneous candidiasis (e.g. balanitis, vulvovaginitis), staphylococcal infections (e.g.
folliculitis) Management of diabetes
urinary tract: cystitis (women), pyelonephritis and perinephric abscess The main objectives for the GP are to prevent the development of cardiovascular disease and
lungs: pneumonia (staphylococcal, streptococcal pneumonia), tuberculosis other complications. Aim to achieve:4

1. reduction of ‘lifestyle’ risks—weight, smoking, low physical activity

Diabetic metabolic complications
2. strict glycaemic control as measured by HbA1c (target varies with circumstance, but usually
Hypoglycaemia ≤7%)

Diabetic ketoacidosis 3. blood pressure control (≤140/90 mmHg, lower if tolerated)18

Hyperosmolar hyperglycaemia 4. control of blood lipid levels

Lactic acidosis Note: Refer to the estimations of cardiovascular risk (see FIGS. 75.1 and 75.2 in
CHAPTER 75 ).
Other complications
Management principles
Cataracts

Refractive errors of eye Provide detailed and comprehensive patient education, support and reassurance.

Sleep apnoea Achieve control of presenting symptoms.

Depression Achieve blood pressure control (huge impact on mortality risk).

Musculoskeletal: neuropathic joint damage (Charcot-type arthropathy), tendon rupture Develop a diabetes care plan. Page 98

Foot ulcers (related to neuropathy) Emphasise the importance of the diet: good nutrition, adequate protein, complex
carbohydrates (low carb diets are an option), restrict fats and sugars.

Prevention of diabetes Promptly diagnose and treat urinary tract infection.

 Treat and prevent life-threatening complications of ketoacidosis or hyperosmolar coma.

Treat and prevent hypoglycaemia in those taking insulin and oral hypoglycaemic agents.

Organise self-testing of blood glucose for those on insulin.

Detect and treat complications of diabetes—neuropathy, nephropathy, retinopathy, vascular

disease.

Ensure immunisation schedule, including influenza and pneumococcus, is updated.

Monitoring techniques
Blood glucose estimation (mainly useful if on insulin; fasting and postprandial)

Urine glucose (of limited usefulness)

Urine or blood ketones (for type 1 diabetes)

Glycated haemoglobin (HbA1c) (3-monthly)

Microalbuminuria (usually urine ACR, regarded as an early and reversible indicator of

nephropathy)

Blood pressure

Serum lipid levels

Kidney function (serum urea/creatinine eGFR)

ECG

Control guidelines are summarised in FIGURE 11.4 and TABLE 11.4 .

FIGURE 11.4 Blood glucose control guidelines for diabetes management

Table 11.4 Suggested guidelines for glycaemic control (blood

glucose mmol/L)4,5,19

Ideal Suboptimal or unacceptable

Before meals (fasting) <5.5 >7.7
After meals (2 hours postprandial) <7 >11
HbA1c %* ≤7 >8
 <140/90 mmHg, lower if tolerated, esp. stroke risk
*HbA1c is an index reflecting the mean plasma glucose levels over the preceding 2–3 months (assume a reference range of 4.5–8%).
≤125/80 mmHg with proteinuria (1 g/day)

Blood glucose monitoring at home BMI 18–25 where practicable

This is done using a glucose meter (glucometer). A wide variety of meters and smart phone apps Urinary albumin <20 mcg/min timed overnight collection
are available: patients will require advice about what suits them. excretion
<20 mg/L spot collection
How often and when?
Albumin– <2.5 mg/mmol—men
Type 1 diabetes:
creatinine ratio
<3.5 mg/mmol—women
four times a day (before meals and before bedtime) at first and for problems

twice a day (at least once) Cigarette zero

consumption
may settle for 1–2 times a week (if good control)
Alcohol intake ≤2 standard drinks, 20 g/day (men and women)
Type 2 diabetes: Exercise at least 30 minutes walking (or equivalent) 5 or more
days/week (total 150 minutes/week)
important for those on insulin, not routinely recommended for oral medication (monitor
with HbA1c instead, in most circumstances)

more useful for pregnant women, frail elderly, heavy machinery operators or symptomatic Note: Page 99
hypoglycaemia
Capillary blood glucose is approximately 7% higher than venous blood.
Goals of management4,5 Glucometer error is usually ±5%.

All people with diabetes should be encouraged to maintain the following goals for
optimum management:
Glycated haemoglobin
HbA1c, which normally comprises 4–6% of the total haemoglobin, is abnormally abundant in
Blood glucose ideal 4–6 mmol/L NHMRC 6–8 mmol/L
those with persistent hyperglycaemia, reflecting suboptimal metabolic control.
(fasting)
Glycohaemoglobins have a long half-life and their measure reflects the mean plasma glucose
Blood glucose 8–10 mmol/L levels over the past 2–3 months and hence provides a good method of assessing overall diabetes
(postprandial) management. HbA1c should be checked every 3–6 months.
HbA1c ≤7% (53 mmol/mol)
Type 1 diabetes
Total cholesterol <4.0 mmol/L
LDL cholesterol <2.0 mmol/L The three main objectives of the treatment of type 1 diabetes are:
HDL cholesterol ≥1.0 mmol/L maintain good health, free from the problems of hyperglycaemia and hypoglycaemia
Non-HDL-C <2.5 mmol/L
achieve proper growth and maturation for children and protect the fetus and mother in a
Triglycerides <2.0 mmol/L mother with type 1 diabetes
Blood pressure
 prevent, arrest or delay long-term macrovascular and microvascular complications Isophane (NPH) Humulin NPH*
Protaphane**
Insulin regimens for type 1 diabetes4,20
Hypurin Isophane
The most commonly used insulin injection preparations are the ‘artificial’ human insulins. Long-acting (analogues)
Insulins are classified according to their time course of action:
Insulin glargine (duration 24–36 hours) Optisulin (Lantus)
rapid-acting and short duration (ultra-short)—insulin lispro, insulin aspart Insulin detemir (duration up to 24 hours) Levemir
short-acting—neutral (regular, soluble) Pre-mixed (short- and intermediate- or long-acting)
Lispro 25%/Protamine 75% Humalog Mix 25*
intermediate-acting—isophane (NPH) or lente
Lispro 50%/Protamine 50% Humalog Mix 50*
long-acting—ultralente, insulin detemir, insulin glargine Insulin aspart 30%/Protamine 70% NovoMix 30**
pre-mixed short/intermediate—biphasic (neutral + isophane) Neutral 30%/Isophane 70% Humulin 30/70*

Also: continuous subcutaneous insulin infusion. Mixtard 30/70**

Neutral 50%/Isophane 50% Mixtard 50/50**
20
Starting insulin
*Available in cartridges for use in pen injectors
For less experienced GPs, shared care with an endocrinologist is recommended. **Available in cartridges for use in pen injectors or in disposable insulin pens

It is important to use the simplest regimen for the individual and to provide optimal education 1. The pre-mixed 2 injection (biphasic) system Page 100
about its administration and monitoring. Full replacement of insulin is achieved by using 2, 3 or Give twice daily, 30 minutes before breakfast and before evening meal (e.g. Mixtard
4 injections per day. However, automated glucose monitoring linked to ‘smart’ insulin pumps 30/70, Humulin 30/70—the most common)
can make an injection decision every five minutes. See TABLE 11.5 for available insulins.
Typical starting dose: 0.3 IU/kg/day—for a 70 kg person use 10 units bd

2. 3 injections per day

Table 11.5 Available insulins4,20
Short-acting insulin before breakfast and lunch

Type Brand name Intermediate- or long-acting insulin before evening meal

Ultra-short-acting (peak 1 hour, duration 3.5–4.5 hours)
3. 4 injections (basal-bolus) system
Insulin lispro Humalog*
Insulin aspart NovoRapid** Short-acting insulin before breakfast, lunch and dinner (bolus)

Insulin glulisine Apidra* Intermediate- or long-acting insulin at bedtime (basal)

Short-acting (peak 2–5 hours, duration 6–8 hours)
Neutral (regular) Actrapid**
Humulin R*
Hypurin Neutral*
Intermediate-acting (duration 12–24 hours)
 straight in. After withdrawing the needle, press down firmly (do not rub or massage) over the
injection site for 30 seconds. Alcohol swabs are unnecessary.

Guidelines for the patient4

Take your insulin every day, even if you feel ill.

Do not change your dose unless instructed by your doctor or you are competent to do so
yourself.

Problems

Injection sites should be inspected regularly because lipohypertrophy or lipoatrophy can occur.

Sick days

Have a prearranged action plan.

Never omit the insulin dose even if the illness is accompanied by nausea, vomiting or marked
anorexia. More top-up insulin is usually required (rapid/fast acting).

Maintain glucose. Keep regular blood glucose checks (a concern if >15 mmol/L).

FIGURE 11.5 Illustration of time course of insulin injection regimens Seek support and help.

Insulin requirements often vary significantly even in the same individual under different lifestyle Sport
conditions. The rapid-acting analogues can be taken with meals.
Encourage sporting activities. Careful planning (use expert help) and monitoring of blood sugar
Methods of giving insulin injections is required. Insulin doses may need to be adjusted before activities.

Additional carbohydrate may be needed.

When

Suggest the patient develops a set routine, such as eating meals on time and giving the injection Glycaemic targets for adults with type 1 diabetes
about 30 minutes before the meal.
7% (53 mmol/mol)
Where HbA1c
fasting preprandial 4–7 mmol/L
Into subcutaneous tissue—the best place is the abdomen. The leg is also acceptable. It is Blood glucose
advisable to keep to one area (usually abdomen) and avoid injections into the arms, near joints postprandial 5–10 mmol/L
and the groin. The injection should be given at a different place each time, at least 3 cm from the
previous injection. This reduces the risk of the development of lipodystrophy. The means of
delivery is the insulin syringe or the insulin delivery pen.

How Type 2 diabetes8,19

Pinch a large area of skin on the abdomen between the thumb and fingers and insert the needle First-line treatment (especially if obese):
 diet therapy Others: weight
gain (common),
exercise program rash and GIT (rare)
Shorter acting
weight loss
sulfonylurea is
Most symptoms improve within 1–4 weeks on diet and exercise.3 Prescribe and ask Page 101
preferred in elderly
about exercise at every visit. Aim for an average of 20–30 minutes a day. Suggest Glipizide 16–24 2.5–40 mg Longer acting
variations such as social-type exercises. The secret to success is patient adherence through good potent ones cause
education and supervision. The role of a diabetic education service, especially with a dietitian, troublesome
can be invaluable. If unsatisfactory control persists after 3–6 months, consider adding an oral hypoglycaemia in
hypoglycaemic agent (see TABLE 11.6 ). The usual first-line agent is metformin, which reduces elderly
insulin resistance. If glycaemic targets are not achieved on monotherapy, usual practice is to add
in a secretagogue, such as a sulfonylurea, which increases insulin production. However, the Glibenclamide 18–24 2.5–20 mg
newer agents SGLT2 inhibitors (the gliflozins) and GLP-1 receptor agonists (injected) should be Glimepiride >24 1–4 mg
considered for their cardioprotective and renoprotective effects. DPP-4 inhibitors (oral gliptins)
and thiazolidinediones (glitazones) are other options. α-glucosidase
inhibitors
Acarbose 3 150–600 mg Flatulence, skin
rashes, diarrhoea,
Table 11.6 Commonly prescribed non-insulin hypoglycaemic agents8,20 liver effects
(with examples)
Thiazolidinediones Dubious mortality
(glitazones) benefit. Caution with
Notes including main heart failure.
Duration of Daily dose
Drug generic adverse
action (hours) range Pioglitazone 24 15–45 mg Oedema, weight
effects
gain, heart failure
Metformin 12 0.5–3 g Side effects:
Rosiglitazone 24 4–8 mg Hepatic effects,
(a biguanide) (also slow- GIT fracture risks
release disturbances
daily (e.g. diarrhoea, DPP-4 inhibitors Slight pancreatitis
dosage) a/n/v) (gliptins) risk
avoid in Sitagliptin >24 25–100 mg Rhinorrhoea,
cardiac, hepatic headache
and kidney hypersensitivity,
disease (eGFR e.g. urticaria
<30)
Linagliptin >24 5 mg
lactic acidosis,
a rare but Saxagliptin 24 5 mg
serious Vildagliptin >24 50–100 mg Dizziness, fatigue
complication
Alogliptin >24 25 mg
Sulfonylureas SGLT2 inhibitors Modest short-term
Gliclazide 18–24 40–320 mg Hypoglycaemia efficacy
most common side
effect Empagliflozin 24 10–25 mg
 Dapagliflozin 24 5–10 mg genitourinary
infections
dehydration,
dizziness,
hypoglycaemia
Ertugliflozin 24 5–15 mg
GLP-1 agonists Nausea,
pancreatitis
Dulaglutide 1 week 1.5 mg
Exenatide 12 hours 5 mcg bd
1 week 2 mg weekly
(MR)
Liraglutide 24 hours 0.6–1.8 mg
daily

Page 102
Consider metformin as the first-line agent for all patients with type 2 diabetes,
irrespective of their weight, unless contraindicated. The usual starting dose is 500 mg once or
twice daily. It has proven benefits over the sulphonylureas, especially in those that are
overweight. Other benefits include no significant weight gain, no hypoglycaemia and an
improved lipid profile. If monotherapy does not provide adequate glycaemic control, a
combination of metformin with another agent (see FIG. 11.6 ) is recommended.20

FIGURE 11.6 Step-up approach to management of type 2 diabetes20

When the first oral hypoglycaemics fail (secondary failure), a second agent can be added (usually
sulfonylurea, DPP-4 inhibitor, SGLT2 inhibitor). Alternatives include GLP-1 receptor
antagonists or insulin, and less commonly acarbose or a glitazone. The newer treatment options
in type 2 diabetes include:20
 dipeptidyl peptidase-IV (DDP-4) inhibitors (gliptins, e.g. sitagliptin)
sodium glucose cotransporter 2 (SGLT2) inhibitors taken orally, e.g. dapagliflozin,
empagliflozin
glucagon-like peptide-1 receptor (GLP-1) agonists (e.g. exenatide modified release—weekly
dosing, liraglutide—daily dosing) given by SC injection. These improve satiety and are
associated with weight loss. Nausea is fairly common, but tends to settle. Pancreatitis is a rare
but important side effect.
Approximately 30% of those with type 2 diabetes eventually require insulin, although that figure
may decrease with the availability of newer agents. An algorithm for the management of type 2
diabetes is presented in FIGURE 11.6 .
Remember that insulin is not a substitute for healthy eating and activity.
14,21
Starting insulin in type 2 diabetes
Before commencing insulin one should be assured that the patient’s lifestyle activities are being
adequately addressed and that oral medication (at recommended maximum dose) is appropriate.
There is no clear-cut rule about when to start insulin for those with HbA1c >7%, but this can be
as early as when drug therapy does not provide adequate control. Two golden rules are ‘don’t
delay initiating basal insulin’ and then ‘start low and go slow’.21
When commencing insulin, reassure the person that the injections are not as uncomfortable as
finger pricks and that they will feel much improved with more energy.
It is appropriate to refer to your diabetic team for shared care at this point—when starting insulin.
Suggested stepwise approach14,19
Step 1
Continue oral agents: metformin + sulfonylurea ± glitazone or acarbose or DPP-4 inhibitor
(limited to 3).
Add 10 units isophane insulin at bedtime.
Step 2
Titrate insulin therapy according to fasting blood glucose (6 mmol/L).
Increase insulin in about 4–5 U increments every 3–4 days (or more gradually).
Step 3
Page 103
If larger or multiple daily doses of insulin are required (NPH or mixed regimen),
continue metformin but usually withdraw sulfonylureas, DPP-4s and thiazolidinediones.
Note: The combination of a glitazone and insulin has been shown to improve control of diabetes
sometimes to the extent of being able to reduce insulin dosage. Consider using a glitazone, GLP1
agonist or SGLT2 inhibitor to reduce the insulin dose requirement. However, check PBS
requirements for triple therapies.
The importance of diet and nutrition
Nutrition management is based on controlling weight, having a healthy eating plan and
supplementing it with exercise. It is recommended to eat a wide variety from all food groups:
protein 10–20%, fat 20–40%, carbohydrate 35–60%
reduce fat, especially saturated fats, sugar and alcohol
People with type 1 diabetes often require three meals and sometimes regular snacks each day.
People with type 2 usually require less food intake and restriction of total food intake.
Principles of dietary management
Keep to a regular nutritious diet.
Achieve ideal body weight.
Reduce calories (kilojoules), particularly:
added sugar
dietary fat
Follow the glycaemic index values (see: www.glycaemicindex.com).
Increase proportions of vegetables, fresh fruit and cereal foods.
Special diabetic foods are not necessary.
‘Whole foods’ are preferred to supplements.
Qualitative diets are often more sustainable than quantitative diets (such as ‘exchanges’ or
‘portions’).
The importance of exercise4,19
Exercise is fundamental to good management. Exercise is any physical activity that keeps you
fit. Good examples are brisk walking (e.g. 2 km per day), jogging, tennis, skiing and aerobics.
Aim for at least 30 minutes three times a week, but daily exercise is ideal. Go slow when you
start and increase your pace gradually.
Psychosocial considerations
The psychological and social factors involving the patient are very influential on outcome.
Considerable support and counselling may be necessary to help both patient and family cope
with the ‘distress’ of the diagnosis and the discipline required for optimal control of their blood
glucose. Reasons for poor dietary compliance and insulin administration must be determined and
mobilisation of a supportive multidisciplinary network (where practical) is most helpful. The GP
should be the pivot of the team. Encourage joining a self-support group where available.
Foot care
Foot problems are one of the commonest complications that need special attention; prevention is
the appropriate approach. By international standards, Australia has an unenviably high rate of
amputations in people with diabetes. Pressure sores can develop on the soles of the feet from
corns, calluses, ill-fitting footwear, and stones and nails. Minor injuries such as cuts can become
a major problem through poor healing. Infection of wounds is a major problem. Check the
footwear.
Control of hypertension
Studies have highlighted the importance of blood pressure control to reduce macrovascular and
microvascular complications in diabetes patients.22 In fact, blood pressure control has more
mortality benefits than blood glucose control. Try non-pharmacological measures first.
Preferred pharmacological agents are ACE inhibitors or ARBs and calcium-channel blockers.5,19
Getting to target blood pressure (<140/90 mmHg, lower if
tolerated)*
Step 1: Diet, exercise, weight control
Step 2: ACEI or ARB
Step 3: ACEI/ARB and diuretic or calcium channel blocker
Step 4: Beta blocker
ARB = angiotensin II receptor blocker
*<125/80 mmHg if proteinuria >1 g/day (ACR >70) present
Current target recommendations vary according to guideline, but aim for blood pressure
below 140/90 mmHg, and lower if tolerated, particularly in those with proteinuria or at Page 104
high risk of stroke. Monitor for treatment-related adverse effects such as hypotension, syncope,
electrolyte abnormalities and acute kidney injury, and review medication if any adverse events
occur.18
The target may need to be relaxed for those at risk of postural hypotension, particularly the
elderly.
Control of dyslipidaemia4,19
Mixed hyperlipidaemia is a common finding in patients with diabetes. Dyslipidaemia (especially
hypercholesterolaemia) is an independent risk factor for the macrovascular complications of
diabetes, and proper control is important. Non-pharmacological measures should be tried first.
The preferred agents are HMG-CoA reductase inhibitors and resins for hypercholesterolaemia,
and fibrates and resins for mixed hyperlipidaemia.
Targets should be:
total cholesterol: <4 mmol/L
triglycerides: <1.5 mmol/L
HDL cholesterol: ≥1 mmol/L
LDL cholesterol: <2.0 mmol/L
Management in summary22
The ABC of diabetic care is summarised in TABLE 11.7 . A key to ongoing control of diabetes
is to maintain the HbA1c at or below 7%, and recognising that it is cardiovascular disease that
causes most of the complications and excess mortality in type 2 diabetes. In patient review, the
National Health and Medical Research Council (NHMRC) guidelines emphasise lifestyle review
as step one.19 A useful lifestyle evaluation mnemonic is NEAT:
Nutrition—eat less, reach ideal weight, healthy low fat/complex carbohydrate diet
Exercise—including ‘walk more’, interesting physical activities
Avoidance of toxins—alcohol, tobacco, salt, sugar, illicit drugs
Tranquillity—rest, recreation and stress reduction
Table 11.7 The ABC of diabetes care3
 difficult). Usually 10 mL in children.
Risk factor Target
or
HbA1c <7%
BP <140/90* 1 mL (= 1 ampoule) glucagon IM or SC (0.5 mL in child <25 kg)
Cholesterol <4 mmol/L** When fully conscious, follow up with snack or meal. Admit to hospital if concerned. Page 105
Smoking Quit Ascertain cause of the hypoglycaemia and instruct the person how to avoid a similar
situation in the future.
*lower if tolerated
**corresponding to LDL cholesterol <2.0 mmol/L Diabetic ketoacidosis24
Antihypertensives and statins have an important role in management. A meta-analysis of the use This life-threatening emergency requires intensive management. It usually occurs during an
of low-dose aspirin (acetylsalicylic acid 75–150 mg/day) showed secondary risk reduction in illness (e.g. gastroenteritis) when insulin is omitted. It can also occur in type 2 diabetes.
people with diabetes and a history of a cardiovascular event (AMI or CVA).23 However, aspirin
is not indicated in people with diabetes who have not had a cardiovascular event. Clinical features

Metabolic complications of diabetes Develops over a few days, but may occur in a few hours in ‘brittle’ diabetics

Hyperglycaemia (often >20 mmol/L, lower or normal if on SGLT2 inhibitor)

Hypoglycaemia
Preceded by polyuria, polydipsia, drowsiness
Hypoglycaemia is theoretically defined as blood glucose falling below 4.0 mmol/L, although
Vomiting and abdominal pain, dehydration
symptoms usually start at <3.5 and become serious at <3.0.24 It is most common with insulin use
(especially type 1 diabetes but also type 2) and can occur on oral hypoglycaemic drugs, notably Hyperventilation—severe acidosis (acidotic breathing): ↓BP, ↑pulse, ↑resp. rate
sulfonylureas (metformin hardly ever causes hypoglycaemia). It is appropriate to ask often about
symptoms of hypoglycaemia: ‘recurrent hypoglycaemia begets hypoglycaemic unawareness’. Ketosis (blood and urine)

Clinical variations Management

1. Classic warning symptoms: sweating, tremor, palpitations, hunger, peri-oral paraesthesia Arrange urgent hospital admission
2. Rapid loss of consciousness, usually without warning Early IV fluids—normal saline fast first litre, then caution
3. Coma: stuporose, comatose or ‘strange’ behaviour IV insulin—slow, e.g. 10 U in first hour
In alert patients able to swallow, give refined carbohydrate orally (15 grams, e.g. 7 jelly ECG—arrhythmia in electrolyte disturbances
beans, 3 teaspoons sugar or honey, half glass soft drink or juice)
Tip: Diabetic ketoacidosis with coma requires fluid, sodium (eventually 3 L N saline), potassium
Repeat BGL every 15 minutes. If <4, repeat above. If >4, give complex carbohydrate snack (KCl) and insulin.
or meal (minimum 15 g, e.g. tub of yoghurt, slice of bread, piece of fruit)

Treatment (reduced conscious state or unconscious) 24 Hyperosmolar hyperglycaemia4

People with this problem may present with an altered conscious state varying from stupor to
Treatment of choice (after DRABC—call ambulance if unconscious) coma and with marked dehydration. The onset may be insidious over a period of weeks, with
fatigue, polyuria and polydipsia. The key features are marked hyperglycaemia and dehydration
30 mL 50% glucose slow IV push (instil rectally using the nozzle of the syringe if IV access
without ketoacidosis. It occurs typically in uncontrolled type 2 diabetes, especially in elderly
patients. Sometimes they have previously undiagnosed diabetes. There may be evidence of an
underlying disorder such as pneumonia or a urinary infection. The essential findings are extreme
hyperglycaemia and high plasma osmolarity. The condition has a high mortality—even higher
than ketoacidosis.
Treatment
IV fluids, e.g. normal to ½ normal saline, given slowly
Insulin—relatively lower doses than acidosis
Lactic acidosis4,8
Patients with lactic acidosis present with marked hyperventilation ‘air hunger’ and confusion. It
has a high mortality rate and must be considered in the very ill person taking metformin,
especially if kidney function is impaired. The risk of lactic acidosis is low if the therapeutic dose
of metformin is not exceeded. Investigations reveal blood acidosis (low pH), low bicarbonate,
high serum lactate, absent serum ketones and a large anion gap. Treatment is based on removal
of the cause, rehydration and alkalinisation with IV sodium bicarbonate.
Other issues in diabetes
Erectile dysfunction20
The prevalence of erectile dysfunction in men with type 2 diabetes over 40 years may be as high
as 50%. It may be caused by macrovascular disease, pelvic autonomic neuropathy or
psychological causes. Those with organic-based ED may benefit from appropriate counselling
and (if not taking nitrates) one of the phosphodiesterase inhibitors, starting with a low dose. The
risk of cardiovascular disease needs to be evaluated.
Female sexual dysfunction
Autonomic dysfunction may result in reduced vaginal lubrication with arousal in women, but not
the degree of sexual dysfunction that affects men. Appropriate education, reassurance and the
use of lubricants should be helpful.
Postural hypotension 20
Autonomic neuropathy-related postural hypotension may be compounded by medication,
including antihypertensives and anti-angina agents. The usual strict blood pressure targets may
need to be relaxed, particularly in the elderly. Persistent problems may be helped by graduated
compression stockings to decrease venous pooling. If it continues to be a severe problem, the use
of oral fludrocortisone may be helpful.
Gastroparesis
Symptoms of gastroparesis (due to autonomic neuropathy) with decreased gastric emptying
include a sensation of fullness, dysphagia, reflux or recurrent nausea and vomiting, especially
after meals. Treatment options include medication with domperidone, cisapride or erythromycin.
Injections of botulinum toxin type A into the pylorus via gastroscopy may facilitate gastric
emptying.
Diabetes and driving4
Diabetes may impair driving via hypoglycaemia (due to medication) or complications Page 106
(particularly visual impairment). Assessing Fitness to Drive 2016 (amended 2017) outlines the
specific legal obligations of medical practitioners for assessing drivers of private and commercial
vehicles. Drivers are obligated to provide details to the driver licensing authority and to their
vehicle insurance company. In general terms, people controlled by diet alone have no restrictions
for driving whereas those on insulin may obtain a conditional licence subject to annual or 2-
yearly review. The main specific risk is hypoglycaemic episodes. Further details can be found at:
www.austroads.com.au/drivers-and-vehicles/assessing-fitness-to-drive.
Contraception
Long-acting reversible contraceptives (e.g. Implanon, Mirena) or the combined oral
contraceptive pill are appropriate options for birth control in women not interested in permanent
sterilisation. Bear in mind the possibility of polycystic ovarian syndrome.
The future4,20
Use of immunosuppressants and immunomodulators for type 1 diabetes
Increased availability of glucagon-like and amylin-like peptides for type 2 diabetes
Continuous implantable venous glucose monitoring
Closed-loop sensor-and-insulin-delivery devices (‘the artificial pancreas’)
Combination ‘type 2 polypill’
Inhaled insulin
Transplantation:
combined kidney/pancreas
islet cells

Treatment errors and pitfalls19
Practice tips
Avoid prescribing oral hypoglycaemic agents prematurely. Allow a reasonable trial of diet and
exercise for type 2 patients, especially if they are overweight.
Review the need for continued oral therapy after 3 months of treatment.
Glucose tolerance tests should be avoided if the diagnosis can be made on the basis of
symptoms and fasting, or random blood sugar or HbA1c (a glucose load carries a small risk of
hyperosmolar coma).
Keep an eye on the development of ketones in type 1 diabetes by checking urinary ketones
and, if present, watch carefully because diabetic ketoacidosis is a life-threatening emergency.
When to refer20
Page 107
Many cases of type 2 diabetes remain undiagnosed, so vigilance is important.
Follow-up programs should keep to a prepared format. Example formats are
presented in TABLES 11.8 and 11.9 .
Hyperglycaemia is a common cause of tiredness. If elderly people with type 2
diabetes are very tired, think of hyperglycaemia and consider giving insulin to
improve their symptoms.
The management of the person with diabetes is a team effort involving family
members, a nurse education centre, podiatrists, domiciliary nursing service, GP
and consultant.

If a person with diabetes (particularly type 1) is very drowsy and looks sick,
Type 1 diabetes requires specialist evaluation and then 1- to 2-yearly review consider first the diagnosis of ketoacidosis.
Type 2 diabetes: depends on the GP’s comfort level and experience. Particularly consider
Foot care is vital: always examine the feet when the person comes in for review.
referral for:
Treat associated hypertension with ACE inhibitors or a calcium-channel blocker
young people (also good in combination).
those requiring insulin
Use a team approach and encourage joining special support groups (e.g.
those with complications Diabetes Australia).

For ophthalmological screening: every 2 years to inspect retina (or use retinal photography) ‘Never let the sun go down on pus in a diabetic foot’—admit to hospital.20

Those with treatable complications, including: If a foot ulcer hasn’t healed in 6 weeks, exclude osteomyelitis. Arrange for an MRI
and investigate the vasculature.
retinopathy
Prevention/detection of coronary heart disease should be an integral part of all
nephropathy consultations.

neuropathy: test annually

Table 11.8
Shared care Diabetes control: 3-monthly review

The management of the person with diabetes provides an ideal opportunity for shared care Discourage smoking and alcohol
between a cooperative team comprising the patient, the GP and the specialist diabetic team. The Review symptoms
objective is to encourage patients to attend their own doctor for primary care and be less reliant Review nutrition
on hospital outpatient services or the diabetic clinics. A well-coordinated arrangement with good
communication strategies provides optimal opportunities for the ongoing education of the Check weight (BMI), BP, urine
patient, the GP and the specialist diabetic team. Review self-monitoring
 Review exercise and physical activity Diabetes: blood glucose monitoring at home
Review HbA1c (test at least every 6 months)
Diabetes: foot care for diabetics
Review lipid levels (test every 12 months)
Diabetes: healthy diet for diabetes

Diabetes: insulin injections

Table 11.9
Diabetes control: an annual review program4 Diabetes: type 1

Diabetes: type 2
1 History
Smoking and alcohol use
Symptoms of hypoglycaemia, hyperglycaemia
References
Check symptoms relating to eyes, circulation, feet*
1 Australian Bureau of Statistics. National Health Survey: First Results, 2014–15. December
Immunisation 2015. Available from:
2 Examinations www.abs.gov.au/ausstats/abs@.nsf/PrimaryMainFeatures/4364.0.55.001?OpenDocument,
accessed February 2018.
Weight, height, BMI
Blood pressure—standing and lying 2 Sainsbury E, at al. Burden of diabetes in Australia: it’s time for more action. Preliminary
Examine heart* report, July 2018.
Carotid and peripheral pulses* 3 Phillips P. Diabetes. Check Program, Unit 401. Melbourne: RACGP, 2005: 4–20.
Eyes:
visual acuity (Snellen chart) 4 RACGP. General Practice Management of Type 2 Diabetes: 2016–18. East Melbourne,
2016 (book available from: www.diabetesaustralia.com.au or www.racgp.org.au).
?cataracts
optic fundi (or ophthalmologist referral)* 5 RACGP. Guidelines for Preventive Activities in General Practice (the red book) (9th edn).
?diabetic retinal photography East Melbourne, 2016: 8.4. Available from: www.racgp.org.au/guidelines/redbook,
Tendon reflexes and sensation for peripheral neuropathy* accessed February 2018.
Skin (general) 6 Welborn T et al. National Diabetic Study. Metabolism, 1997; 1: 1–3.
Foot examination including footwear*
Check injection sites 7 Nankervis A, et al. Gestational diabetes mellitus: a pragmatic approach to diagnosis and
management. Aust J Gen Pract, 2018; 47(7): 445–449.
Urine examination: albumin, ketones, glucose
3 Review biochemical levels 8 RACGP, Management of Type 2 Diabetes: A Handbook for General Practice. RACGP,
2020. Available from: www.racgp.org.au/diabetes-handbook, accessed February 2021.

*These items comprise a program for detection of long-term complications. They should be conducted annually, commencing 5 years after 9 Sinah R et al. Diabetes in childhood obesity. N Engl J Med, 2002; 346: 802–10.
diagnosis.

10 Nankervis A et al. ADIPS Consensus Guidelines for the Testing and Diagnosis of
Patient education resources Hyperglycaemia in Pregnancy in Australia and New Zealand. Modified November 2014.
Available from: www.ranzcog.edu.au/RANZCOG_SITE/media/RANZCOG-
MEDIA/Women%27s%20Health/ADIPS-GDM-Guidelines-2014.pdf?ext=.pdf, accessed
Hand-out sheets from Murtagh’s Patient Education 8th edition:
February 2021.
Diabetes
11 UK Prospective Diabetes Study Group. Tight blood pressure control and risk of
 macrovascular and microvascular complications in type 2 diabetes (UKPDS 38). BMJ, Page 109
1998; 317: 703–13.

12 Hypertension Expert Working Group. Evidence based guideline for the diagnosis and
management of hypertension in type 2 diabetes. National evidence based guidelines for the
management of type 2 diabetes mellitus. Draft for public consultation. Sydney: Australian
Centre for Diabetes Strategies, Prince of Wales Hospital, January 2001.
12 Drug and alcohol problems
13 Heart Outcomes Prevention Evaluation (HOPE) Study Investigators. Effects of ramipril on
cardiovascular and microvascular outcomes in people with diabetes mellitus: results of the
HOPE study and MICRO-HOPE substudy. Lancet, 2000; 355: 253–9.

14 Managing type 2 diabetes. NPS News, 2005; 39: I–VI. Page 108
A custome loathsome to the eye, hateful to the nose, harmeful to the braine, dangerous to the
lungs and the blacke stinking fume thereof, neerest resembling the horrible Stigian smoke of the
15 Vaag A et al. Metabolic impact of a family history of type 2 diabetes. Results from a bottomless pit.
European multicentre study. Sisätautien Klinikka, 2001: 65.
JAMES I (1566–1625), ON SMOKING
16 Lean MEJ et al. Durability of a primary care-led weight-management intervention for
remission of type 2 diabetes: 2-year results of the DiRECT open-label, cluster-randomised Ecstasy: a drug so strong it makes white people think that they can dance.
trial. Lancet Diabetes Endocrinol, 2019; 7(5): 344–55.

17 Harris M. SNAP. A Population Guide to Behavioural Risk Factors in General Practice.
South Melbourne: RACGP, 2004.
18 Bell K et al. Blood pressure: new evidence, new targets. Diabetes Management Journal,
2019; May: 24–27.
19 National Health and Medical Research Council. Evidence based Guidelines for the
Management of Type 2 Diabetes Mellitus. Canberra: NHMRC, 2005.
20 Diabetes [published 2019]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Guidelines Limited; 2019. www.tg.org.au, accessed February 2021.
21 Goudswaard AN et al. Insulin monotherapy versus combinations of insulin with oral
hypoglycaemic agents in patients with type 2 diabetes mellitus. Cochrane Database Syst
Rev. 2004 Oct 18; (4): CD003418.
22 New Zealand Guidelines Group. Evidence-based best practice guidelines. Management of
type 2 diabetes. Wellington: New Zealand Guidelines Group, 2003.
23 Colwell JA. Aspirin therapy in diabetes. Diabetes Care, 2001; 24: 62–3.
24 Green A. Hypoglycaemia management in general practice. Diabetes Management Journal,
2018; August: 17–19.
LENNY HENRY (1958–)
If you want to keep a dead man, put him in whisky; if you want to kill a live man put whisky in
him.
THOMAS GUTHRIE (1803–1873)
Drug-related problems are true masquerades in family practice. This includes prescribed drugs,
over-the-counter drugs and social or illegal street drugs. It is important therefore that all
prescribing doctors maintain a high index of suspicion that any clinical problem may be
associated with their treatment of the patient.
Adverse drug reactions
An adverse drug effect is defined as ‘any unwanted effect of treatment from the medical use of
drugs that occurs at a usual therapeutic dose’. Almost every drug can cause an adverse reaction,
which must be elicited in the history. Any substance that produces beneficial therapeutic effects
may also produce unwanted, adverse or toxic effects. The severity of the reaction may range
from a mild skin rash or nausea to sudden death from anaphylaxis. A study has shown that the
incidence of adverse reactions increases from about 3% in patients 10–20 years of age to about
20% in patients 80–89 years of age.1

Reactions can be classified in several ways—side effects, overdosage, intolerance,

hypersensitivity and idiosyncrasy. However, a useful classification of unwanted effects is
divided into type A and type B.
Type A reactions are the most common and involve augmented pharmacology; that is, they are Anticonvulsants: carbamazepine, phenobarbitone, phenytoin, sodium valproate
caused by unwanted, albeit predictable, effects of the drug. Examples include:
Anti-inflammatories and analgesics: aspirin/salicylates, opioids (e.g. codeine, Page 110
constipation due to verapamil morphine), NSAIDs, gold salts, DMARDs, bDMARDs

blurred vision and urinary outflow problems due to tricyclic antidepressants Antihypertensive agents: several

hyperuricaemia due to thiazide diuretics Cardiac agents: digoxin, quinidine, amiodarone, other antiarrhythmics

Type A reactions are dose-dependent. Diuretics: thiazides, frusemide

Type B reactions are idiosyncratic. The reactions are unpredictable from known properties of the Tranquillisers: phenothiazines, benzodiazepines, barbiturates, chlordiazepoxide
drug. Examples include hepatotoxicity and blood dyscrasias.
Other drugs: cytotoxics, hormones, allopurinol, warfarin
Golden rules for prevention of adverse effects
Tobacco use
Before prescribing any drug the prescriber should consider the following rules:
‘Smoking is good for you’, according to an old Arab proverb. ‘The dogs will not bite you
1. Is the drug really necessary?
because you smell so bad; thieves will not rob you at night because you cough in your sleep and
2. What will happen if it is not used? you will not suffer the indignities of old age because you will die when you are relatively
young.’
3. What good do I hope to achieve?
Tobacco smoking is the largest single, preventable cause of death and disease in Australia. It has
4. What harm may result from this treatment? been estimated to have caused approximately 15 000 deaths in 2004–2005, over six times the
number of deaths from road accidents.2 Diseases attributed to smoking are summarised in
FIGURE 12.1 . Signs of major dependence are smoking within 30 minutes of waking and ≥20
Common adverse effects cigarettes a day.
There is an extensive list of clinical problems caused by drugs as side effects or interactions that
are highlighted throughout this book. Common side effects include:

CNS—malaise, drowsiness, fatigue/tiredness, headache, dizziness

CVS—palpitations, peripheral oedema, hypotension

GIT—nausea, vomiting, dyspepsia, change in bowel habit (diarrhoea, constipation)

skin—rash, pruritus, flushing

psychiatric/emotional—insomnia, irritability, anxiety, depression, agitation

Drugs that commonly produce adverse effects

Antidepressants (number 1 cause): tricyclics, MAOIs, SSRIs

Antimicrobials: penicillin/cephalosporins, sulfonamides, tetracyclines, streptomycin,

ketoconazole
 and emphasise the improvement in health, longevity, money savings, looks and sexuality.

Point out the following advantages to quitting:

food tastes better

sense of smell improves

exercise tolerance is better

sexual pleasure is improved

bad breath improves

risk of lung cancer drops: after 10–15 years of quitting it is as low as someone who has
never smoked

early COPD can be reversed

decreases URTIs and bronchitis

chance of premature skin wrinkling and stained teeth is less

removes effects of passive smoking on family and friends

removes problem of effects on pregnancy

The extent of nicotine dependence can be assessed using a questionnaire (based on the
Fagerström test) and scoring system.3 As a baseline, ask about the number of cigarettes
smoked per day, how soon after waking to smoking the first cigarette of the day and any
difficulties with coping with antismoking venues (e.g. cinemas, plane travel).

Intervention: the 5A framework3

Ask about and document tobacco use at every opportunity.
FIGURE 12.1 Possible serious adverse effects of nicotine smoking Assess motivation and confidence to quit: ‘Are you interested in quitting?’

Advice to patients (quitting) Advise all smokers to quit (in a diplomatic way).

Several studies have highlighted the value of opportunistic intervention by the family doctor. It is Assist the smoker to stop with counselling and pharmacotherapy.
important not only to encourage people to quit but also to organise a quitting program and
follow-up. In Australia, 80% of smokers (representing about 30% of the adult population) have Arrange follow-up to maintain quit advice or non-smoking.
indicated that they wish to stop smoking. Point out that it is not easy and requires strong will
power. As Mark Twain said, ‘Quitting is easy—I’ve done it a thousand times.’
Ask them to keep a smoker’s diary.
Educate patients about the risks to their health and the many advantages of quitting smoking,
 If they say no to quitting, give them motivational literature and ask them to reconsider. 5. Restlessness
6. Depressed mood
If they say yes, make a contract (example below).
7. Insomnia

A contract to quit
Treatment
‘I ................. agree to stop smoking on ................. I understand that stopping
Page 112
smoking is the single best thing I can do for my health and that my doctor has
strongly encouraged me to quit.’ Pharmacological3

................. (Patient’s signature) Nicotine replacement therapy (NRT), which should be used in conjunction with an educational
support program, has been proved to be effective and is available as chewing gum, inhaler, oral
................. (Doctor’s signature) spray, lozenges, sublingual tablets or transdermal patches (the preferred method). Ideally the
nicotine should not be used longer than 3 months. Eight weeks of patch therapy is as effective as
longer courses.
These motivated patients will require educational and behavioural strategies to help them cope
with quitting. Ongoing support by their GP is very important. NRT should be directed at smokers with a moderate to high nicotine dependency who are
motivated to quit. There is little evidence that drug treatment will benefit individuals with low
Organise joining a support group. levels of nicotine dependence who smoke fewer than 10 cigarettes a day.4

Contact your local Quitline (or similar service) for information about and support for quitting, All forms of NRT are effective: a pooled analysis of all NRT trials showed an absolute increase
especially if smoking ≥20 cigarettes a day. in cessation at 1 year of 7% compared to placebo.4

Arrange follow-up (very important), at least monthly, especially during first 3 Page 111 NRT should start at the quit date, not while still smoking.
months.
The RACGP Expert Advisory Group for Supporting Smoking Cessation strongly recommend the
Going ‘cold turkey’ (stopping completely) is preferable but before making the final break it use of NRT varenicline and bupropion with high certainty, and nortriptyline with moderate
can be made easier by changing to a lighter brand, inhaling less, stubbing out earlier and certainty.5
reducing the number. Changing to cigars or pipes is best avoided.
Nicotine gum3
Withdrawal effects3
This is available as 2 mg and 4 mg.
The initial symptoms are restlessness, cravings, hunger, irritability, poor concentration, headache
and frustration (refer to TABLE 12.1 ). After about 10 days most of these effects subside but it Low dependence (less than 10 cigarettes per day): use non-pharmacological methods rather
takes about three months for a smoker to feel relatively comfortable with not smoking any more. than replacement
Nicotine replacement therapy certainly helps patients cope.
Moderate dependence (10–20 cigarettes per day): 2 mg every 1–2 hours, chew max. 8–12
pieces daily
Table 12.1 Nicotine withdrawal symptoms (DSM-5)
High dependence (>20 per day, waking at night to smoke or first thing after waking): 4 mg
initially, 6–10 pieces chewed daily changing to 2 mg after 4–8 weeks (max. 12 pieces/24
1. Irritability, frustration or anger hours)
2. Anxiety
3. Difficulty concentrating Useful points:
4. Increased appetite Chew each piece slowly for about 30 minutes.
 Ensure all the nicotine is utilised. This oral agent has a similar effectiveness to NRT.

Chew at least 6 pieces per day, replacing at regular intervals (not more than 1 piece per hour). Adverse effects include insomnia and dry mouth (both common), with serious effects, such as
allergic reactions and increased seizure risk.7 It is contraindicated in persons with a history of
Use for 3 months, weaning off before the end of this period. epilepsy.

Transdermal nicotine3 Recommended dose: 150 mg (o) daily for 3 days then bd for 12 weeks.

This is available as 16-hour or 24-hour nicotine patches in three different strengths. The patients Varenicline tartrate (Champix)3,6
should stop smoking immediately on use.
Commence with 0.5 mg (o) daily with food for 3 days titrating slowing to 1 mg bd by day 7
Recommendations: until the end of the 12-week course

low to moderate dependence (10–20 cigarettes/day): 15 mg/24 hour or 10 mg/16 hour patch, It is an effective agent but there are several adverse side effects, especially nausea with a concern
daily; aim to cease within 12 weeks about neuropsychiatric effects.7 Avoid in end-stage kidney disease and take care with diabetics.

high dependence (>20/day): 21 mg/24 hour or 15 mg/16 hour patch; change to 15 mg or Nortriptyline
10 mg patch after 4–6 weeks; aim to cease within 12 weeks; use lower dose if patient is
<45 kg or has CVS disease Start with 25 mg (o), increasing gradually to 75 mg (o) daily, starting 14 days before quit date
then continue for 12 weeks
Apply to non-hairy, clean, dry section of skin on upper outer arm or upper chest and leave in
place for 24 hours. Rotate sites with a 7-day gap for reuse of a specific site. Note: Regular follow-up for all methods is essential for outcome.

Nicotine inhaler Vaping

Uses cartridges (15 mg) in a mouthpiece resembling smoking. This involves inhaling and exhaling the vapour from ‘electronic’ e-cigarettes. Its use is Page 113
controversial, especially since the addition of nicotine e-liquids ± other substances have
6/day for 12 weeks then taper led to serious adverse effects including death. Currently, nicotine e-cigarettes are allowed to be
imported and purchased under a doctor prescription.8 The RACGP Expert Group concludes
Nicotine oral spray ‘conditional recommendation for intervention—low certainty’.5

1 mg/spray: 1–2 sprays into mouth orally (max. 64 sprays/24 hours)

Nicotine lozenges and sublingual tablets

These are available in 2 mg and 4 mg strengths, the strength used according to the level of
dependence, e.g. high dependence: suck 4 mg lozenges (max. 15/24 hours), or 4 mg SL every 1–
2 hours (max. 80 mg/24 hours).
Combination therapy
Excessive and harmful drinking
Excessive drinking of alcohol is one of the most common and socially destructive problems in
the world. One survey found that 5% of Australian men and 1% of women were alcohol-
dependent. It also showed that 86% of men and 79% of women drink alcohol, with 8.3% of the
population drinking alcohol every day.7

Controlled trials have shown enhanced outcomes when nicotine patches are combined with gum Alcohol is estimated to have a harmful effect on about 1 in 10 people.
or inhaler. Consider it for highly addicted smokers.
At least 20–40% of acute general and psychiatric hospital admissions have an alcohol-related
Other agents for smoking cessation6 illness.

Bupropion (Zyban) About 20%-plus of fatal traffic accidents involve alcohol.

 The author’s study9 identified alcohol dependence in 9.7% of the population studied and a
further group of problem drinkers that included the ‘explosive’ or binge drinker (see
FIG. 12.2 ). Problem drinkers represent about 15–20% of the population.
Healthy men and women should drink no more than 4 standard drinks on a single
occasion, and then should not drink at all for 2–3 days.
Guideline 3 Children and young people under 18 years of age should not drink
alcohol
Guideline 4 Maternal alcohol consumption can harm the developing fetus or
breastfeeding baby
a. Women who are pregnant or planning a pregnancy should not drink alcohol.
b. For women who are breastfeeding not drinking is safest for their baby.

High-risk and harmful drinking occurs at >6 standard drinks (SDs) a day (average) for men and
>4 SDs for women.

The main causes of alcohol-related deaths are road trauma, cancer and alcoholic liver disease.10

Clinical pointers to alcohol abuse

Facial features of the patient can be a helpful pointer, albeit of the more advanced drinker. These
include:

plethoric facies

puffy ‘greasy’ facies

telangiectasia

rosacea + rhinophyma

suffused (‘bloodshot’) conjunctivae

FIGURE 12.2 Prevalence of alcohol drinking patterns in the adult population
prominent lower lip with cheilitis of corners of mouth
(figures expressed as a percentage)
smell of stale alcohol or very ‘minty’ sweet breath (masking effect)
National Health and Medical Research Council (NHMRC) revised guidelines addressing harmful
drinking are presented in TABLE 12.2 .10,11
Taking a drinking history
Table 12.2 Recommended guidelines to reduce health risks from drinking alcohol, This requires tact and skill and it must be noted that many problem drinkers considerably
understate the level of their intake.
NHMRC 202010
Useful strategies9
Guideline 1 Reducing the risk of alcohol-related harm over a lifetime
For healthy men and women, drinking no more than 10 standard drinks a week Ask questions as part of a matter-of-fact enquiry into health risk factors, such as smoking and
reduces the lifetime risk of harm from alcohol-related disease or injury. diet.

Guideline 2 Reducing the risk of injury on a single occasion of drinking Place the onus of denial on the patient by asking questions such as ‘When did you Page 114
 last drink alcohol?’ rather than ‘Do you ever drink alcohol?’
Measuring alcohol intake
Record your patient’s intake quantitatively in terms of standard drinks or grams of alcohol.
One standard drink contains 10 g of alcohol, which is the amount in one middy (or pot) of
Confirm the history by enquiring about the time spent drinking per day and expenditure on standard beer (285 mL), two middies of low-alcohol beer or five middies of super-light beer.
alcohol. These are equal in alcohol content to one small glass of table wine (122 mL), one glass of sherry
or port (60 mL), or one nip of spirits (30 mL) (see FIG. 12.3 ).
Useful questionnaires
There are several questionnaires that can be most helpful, assuming the patient is fully
cooperative. Two or more positive replies for the CAGE questionnaire12 are suggestive of a
problem drinker.

1. Have you ever felt you should CUT down on your drinking?

2. Have people ANNOYED you by criticising your drinking?

3. Have you ever felt bad or GUILTY about your drinking?

4. Have you ever had a drink first thing in the morning to steady your nerves or get rid of a
hangover? (an EYE-OPENER) FIGURE 12.3 Standard drinks

1 stubbie or can of full-strength beer = 1.4 standard drinks

Laboratory investigations
1 light beer = 0.9 standard drinks
The following blood tests may be helpful in the identification of excessive chronic alcohol
intake: 1 × 750 mL bottle of beer = 2.6 standard drinks

blood alcohol 1 × 750 mL bottle of wine = 7 standard drinks

serum GGT: elevated in chronic drinkers (returns to normal with cessation of intake)
Alcohol dependence
MCV: >96 fL
Alcohol dependence is a syndrome in which an individual demonstrates clinically significant
Other changes: impairment or distress as manifested by three or more of the following, occurring at any time in
the same 12-month period:
abnormal liver function tests (other than GGT)
1. tolerance
carbohydrate-deficient transferrin (quite specific—dependent on an enzyme induced by
alcohol) 2. withdrawal

HDLs elevated 3. drinking in larger amounts or for a longer period than intended

LDLs lowered 4. unsuccessful attempts to cut down or control drinking

serum uric acid elevated 5. a great deal of time spent in activities necessary to obtain, use or recover from the effects of
alcohol
6. important social, occupational or recreational activities reduced or given up because of
drinking

7. continued drinking despite knowledge of having persistent or recurrent problems caused by or

exacerbated by drinking

Approach to management
The challenge to the family doctor is early recognition of the problem. There are specific target
areas which should be considered carefully by the GP. Several studies have shown that early
intervention and brief counselling by the doctor are effective in leading to rehabilitation.13 Some
of the results are very revealing.

Patients expect their family doctor to advise on safe drinking levels.

They will listen and act on our advice.14

Treatment is more effective if offered before dependence or chronic disease has developed.14

Of prime concern to the GP is the assessment of whether the patient is interested in changing his
or her excessive drinking behaviour. The proposed model of change by Prochaska and
DiClemente helps identify the stage reached by the patient (see FIG. 12.4 ).15

FIGURE 12.4 Prochaska and DiClemente’s15 proposed model of change to

facilitate the identification of behavioural stages and the provision of
counselling for treating dependence on alcohol, tobacco and other drugs

Precontemplators are satisfied users who are either unconcerned about their drinking or Page 115
have no desire to change. However, if there is any evidence of ambivalence or concern
about drinking, then the opportunity exists for motivational interviewing techniques.

Patients are not likely to offer concern about their drinking problem spontaneously but are often
receptive to the initiative coming from their doctor.

The family doctor is ideally placed to identify and treat the problem of alcohol because the
individual who abuses alcohol will tend to surface at some point in the provision of primary
health care.

A brief practical management plan16

Giving patients feedback about their level of alcohol consumption, presenting objective evidence
of harm and setting realistic goals for reducing alcohol intake induces many to change their
drinking behaviour.
A six-step management plan, which has been employed in a general-practice early intervention
program, is as follows:
Follow-up (long consultation 1 week later)
1. Feed back the results of your assessment and specifically the degree of risk associated with
their daily alcohol intake and bout drinking. Emphasise any damage that has already occurred. Review the patient’s drinking diary. Explore any problems, summarise, listen and provide
support and encouragement. If appointment is not kept, contact the patient.
2. Listen carefully to their reaction. They will need to vocalise their feelings and may respond
defensively. Specialist services
3. Outline the benefits of reducing drinking (e.g. save money, better health, weight loss). According to progress and the patient’s wishes and consent, specialist treatment units, group
therapy and attendance at meetings of Al-Anon or AA are potential sources of help to keep the
4. Set goals for alcohol consumption that you both agree are feasible. In most cases this will alcohol-dependent person abstinent and coping.
involve reduction to below certain ‘safe limits’.
‘Anti-craving’ drugs
For men: aim for fewer than 12 SDs per week.
Page 116
The following show a modest effect on assisting abstinence:
For women: aim for fewer than 8 SDs per week. It is best for pregnant women not to drink.
acamprosate 666 mg (o) tds (if ≤60 kg)
For patients with illness who are physically dependent on alcohol, long-term abstinence is
advisable. naltrexone 50 mg (o) daily (under close supervision)
5. Set strategies to keep below the upper safe limits, e.g.: consider a combination of the above 2 drugs
quench thirst with non-alcoholic drinks before having an alcoholic one Note: Disulfiram can be helpful in highly motivated people but its use, as for the above agents, is
recommended under specialist advice.
switch to low-alcohol beer

take care which parties you go to: avoid constant parties and other high-risk situations Withdrawal symptoms
explore new interests—fishing, cinema, social club, sporting activity
Symptoms of a ‘hangover’ include headache, nausea, irritability, malaise and a mild tremor.
6. Evaluate progress by having patients monitor their drinking by using a diary; check that any Withdrawal from alcohol in a chronic problem drinker includes:
abnormal blood test results are returning to normal. Make a definite appointment for follow-up
agitation/anxiety
and give appropriate literature such as Alcohol: Harmful Use of Alcohol. Obtain consent for a
telephone follow-up. A useful minimum intervention plan is presented in TABLE 12.3 . prominent tremor

sweating
Table 12.3 Minimum intervention technique plan (5–10 minutes)
insomnia
1. Advise reduction to safe levels seizures (occasionally)
2. Outline the benefits
3. Provide a self-help pamphlet delirium tremens (DTs)
4. Organise a diary or other feedback system
The aim of treatment for acute withdrawal symptoms is to prevent development of DTs.
5. Obtain consent for a telephone follow-up Maintain fluid, electrolytes and nutrition. Add vitamin B complex, including thiamine, because
6. Offer additional help (e.g. referral to an alcohol and drug unit or to a support the patient is invariably thiamine deficient.
group)
If medication is required (specialised advice):
 diazepam 20 mg (o) every 2 hours (up to 100 mg (o) daily, although 60 mg is usually Note: Chlorpromazine is not recommended because of its potential to lower seizure threshold.
adequate) titrated against clinical response (taper off after 2 days) in the hospitalised or well- Diazepam and haloperidol may worsen the symptoms of hepatic toxicity.
supervised patient

thiamine 100 mg IM or IV daily for three days, then 300 mg (o) daily for several weeks
vitamin B group supplement IM daily
for psychotic features add haloperidol 1.5–5 mg (o) bd or 5 mg IM as single dose if necessary
Alcohol withdrawal delirium (delirium tremens)
DTs is a serious life-threatening withdrawal state. It has a high mortality rate if inadequately
treated and hospitalisation is always necessary.
Alcohol overdose
Overdose is potentially fatal. The average lethal blood alcohol concentration is about 0.45–0.5%.
Death from a lower concentration may occur with other sedative drugs. Alcohol withdrawal may
begin at 0.1%. Treatment of overdose is supportive and symptomatic. No stimulants should be
given. Overdose may cause hypoglycaemia and metabolic acidosis.
Hangover
A type of acute drug toxicity causing headache, nausea and fatigue.

Clinical features Prevention

May be precipitated by intercurrent infection or trauma Drink alcohol on a full stomach.

1–5 days after withdrawal (usually 3–4 days) Select alcoholic drinks that suit you: avoid champagne.

Disorientation, agitation Avoid fast drinking—keep it slow.

Clouding of consciousness Restrict the quantity of alcohol.

Marked tremor Dilute your drinks.

Visual hallucinations (e.g. spiders, pink elephants) Avoid or restrict smoking while drinking.

Sweating, tachycardia, pyrexia Drink three large glasses of water before retiring.

Signs of dehydration Treatment

Treatment Drink ample fluids especially water because of relative dehydration effect of alcohol.

Hospitalisation with alcohol specialist advisory service Take two paracetamol tablets for headache. Page 117

Correct fluid and electrolyte imbalance with IV therapy Drink orange juice or tomato juice, with added sugar.

Treat any systemic infection A drink of honey in lemon juice helps.

Thiamine (vitamin B1) 300 mg IM or IV daily for 3–5 days, then thiamine 300 mg (o) daily Tea is a suitable beverage.

Diazepam 20 mg (o) every 2 hours (up to max. 100 mg daily) until symptoms subside. This Have a substantial meal but avoid fatty food.
dose is usually required for 2–3 days, then should be gradually reduced until finished. If
psychotic features (e.g. hallucinations and delusions), add haloperidol 0.5–2 mg (o) bd every 2 Illicit drugs
hours, titrated to clinical response (max. 10 mg/24 hours).
Several psychotropic substances are used for their effects on mood and other mental functions.
Many of the severe problems are due to withdrawal of the drug. Symptomatic behaviour
common to illicit drugs includes:

rapid disappearance of clothing and personal belongings from home

signs of unusual activity around hang-outs and other buildings

loitering in hallways or in areas frequented by addicts

spending unusual amounts of time in locked bathrooms

inability to hold a job or stay in school

rejection of old friends

using the jargon of addicts

Illicit substance abuse

The drugs described below and in TABLES 12.4 and 12.5 are all commonly abused.
Cannabis was the most widely used illicit drug in Australia in 2019, and was more frequently
used than other illicit drugs. FIGURE 12.5 ‘Meth mouth’ in a young man actively smoking
methamphetamine
Cocaine use increased from 2.5% in 2016 to 4.2% in 2019.17 This includes crack, which is a
cocaine base where the hydrochloride has mostly been removed, usually in a microwave oven.
Crack can be inhaled or smoked (see FIGS 12.5 and 12.6 ). However, use of ice, which is the
crude form of methamphetamine, a derivative of amphetamine (FIG. 12.6 ), was the main form
of meth/amphetamine drug use during 2019. Speed is dexamphetamine.

FIGURE 12.6 Methamphetamine ice with pipe

Party drugs Drug Physical symptoms Look for Dangers
Amphetamines Aggressive or Jars of pills of Hypertension;
Ecstasy is another ‘designer’ drug which is an amphetamine derivative—methylenedioxy- including agitated behaviour; varying death from
methamphetamine (MDMA). It has high abuse potential, some hallucinogenic properties and a methamphetamines (3 giggling; silliness; colours; chain overdose;
tendency to neurotoxicity, as proved on PET brain scans. It is popular in rave parties. Deaths forms) euphoria; rapid smoking; hallucinations;
have occurred, reportedly in association with relative dehydration or excessive hydration. speed—powder speech; fever; white powder paranoia; may
Treatment for overdosage involves correction of fluid and electrolyte disturbances. An confused thinking; and crystals cause
base—oily paste
increasingly popular drug is fantasy (gamma-hydroxybutyrate), which has sedative and anorexia; can also be temporary
anaesthetic effects similar to alcohol. A popular party drug, it is implicated as a ‘date rape’ drug. ice—crystalline insomnia; extreme snorted or psychosis;
There is no specific antidote.16 Another party drug is ketamine, which is a short-acting fatigue; dry mouth; injected stroke; cardiac
anaesthetic with hallucinogenic properties. It can produce nausea and vomiting if used with shakiness; anxiety arrest
alcohol. Like fantasy, treatment of overdosage is symptomatic. Local anaesthetics can be Ecstasy (methylene- Anxiety; panic; Small tablets Convulsions;
dangerous in amphetamine users because of cardiotoxicity. The most common party drugs dioxymethamphetamine) sweating; ‘loving’ of various risk of death
reportedly used for drink spiking are alcohol, flunitrazepam (Rohypnol), GHB (fantasy), ecstasy, feelings; jaw colours, from heart
LSD and ketamine. clenching, teeth shapes, sizes attack, cerebral
grinding; bizarre and designs; haemorrhage,
The drug list overactive also comes in hyperthermia,
behaviour; powder and fluid imbalance
In 2019, 16.4% of Australians had used an illicit drug in the past 12 months. The most hallucinations; capsules with
commonly used drugs were:18 increased heart hyponatraemia,
rate, BP and body acute kidney
cannabis 11.6% temperature; failure, DIC,
confidence; liver toxicity;
cocaine 4.2% feelings of hangover;
happiness and depression
non-medical use of pharmaceuticals (including opiods, benzodiazepines) 4.2% love
ecstasy 3% Page 118 Fantasy (gamma- Relaxation and Colourless, Tremors and
hydroxybutyrate) drowsiness; odourless shaking;
hallucinogens 1.6% dizziness; relaxed liquid; also amnesia;
inhibition/euphoria; powder and coma;
inhalants 1.4% increased sexual capsules convulsions;
arousal; impaired death from
meth/amphetamine 1.3% mobility and high doses
speech
ketamine 0.9%
Barbiturates Drowsiness; Pills of Death from
injected drugs 0.3% stupor; dullness; various overdose or as
slurred speech; colours a result of
Source: National Drug Strategy Household Survey 2019
drunk appearance; withdrawal;
A summary of the effects of illicit or hard street drugs is presented in TABLE 12.4 . vomiting addiction;
convulsions
Cannabis/marijuana Initial euphoria; Strong odour Inducement to
floating feeling; of burnt take stronger
Table 12.4 Illicit substance abuse: a summary of hallmarks sleepiness; leaves; small narcotics;
lethargy; seeds in recent medical
wandering mind; pocket lining; findings reveal
 wandering mind; pocket lining; findings reveal paranoia, snorted or from
enlarged pupils; cigarette that prolonged hyperactivity, jerky injected arrhythmias;
lack of paper; usage causes movements, seizures;
coordination; discoloured cognitive euphoria, dilated mental
craving for sweets; fingers defects, pupils disorders;
changes of precipitates or severe
appetite; memory exacerbates respiratory
impairment; schizophrenia; problems
tacchycardia hyperemesis
Volatile substances Aggression and Tubes of Lung/brain/liver
including glue, solvents violence; drunk glue; glue damage; death
or petrol sniffing appearance; smears; large through A list of street drugs and their slang names is presented in TABLE 12.5 .
slurred speech; paper or suffocation or
dreamy or blank plastic bags choking
Table 12.5 A street drug dictionary
expression; or
hallucinations; handkerchiefs
ataxia Amphetamines or uppers
LSD (lysergic acid Severe Cube sugar Suicidal Benzedrine Roses, beanies, peaches
diethylamide) hallucinations; with tendencies;
feelings of discolouration unpredictable Dexedrine Dexies, speed, hearts, pep pills, fast, go-ee,
detachment; in centre; behaviour; uppers, sulphate
incoherent speech; strong body chronic Methamphetamines Meth, crystals, white light, ice, whiz
cold hands and odour; small exposure
feet; vomiting; tube of liquid causes brain Drinamyl Purple hearts, goof balls
laughing and damage; LSD Amphetamine derivatives
crying causes
chromosomal Ecstasy E, eggs, eckies, XTC, ‘the love drug’,
breakdown Mitsubishis, MDMA, vitamin E, X, Adam, death

Narcotics Stupor/drowsiness; Needle or Death from Crank Crystal M, crank

(a) opioids (e.g. heroin) marks on body; hypodermic overdose;
watery eyes; loss syringe; respiratory Hallucinogens
of appetite; cotton; depression; LSD Acid, blue cheer, strawberry fields, barrels,
running nose; tourniquet— mental sunshine, pentagons, purple haze, peace pills,
constricted pupils; string, rope, deterioration; blue light, trips
loss of sex drive; belt; burnt destruction of
agitation; bottle, caps brain and liver; Cannabis (Indian hemp) Hash, resin
hypoventilation or spoons; hepatitis;
1 Hashish (the resin) Pot, tea, grass, hay, weed, locoweed, Mary
bloodstain on embolisms
Jane, rope, bong, jive, Acapulco gold
shirt sleeve;
glass in 2 Marijuana (from leaves) Reefers, sticks, muggles, joints, spliffies, head,
envelopes smoko, ganga
(b) cocaine Similar effects to Powder: in Hallucinations; Cigarettes Blow a stick, blast a joint, blow, get high, get
amphetamines— microwave death from stoned
muscle pains, ovens; overdose—
irritability, inhaled, sudden death Smoking pot
paranoia, snorted or from
 Narcotics Methods of intake
Morphine Morph, Miss Emma 1. Oral ingestion
Heroin H, Big H, Big Harry, GOM (God’s own medicine),
2. Inhalation (see FIG. 12.5 )
crap, junk, horse dynamite (high-grade heroin),
lemonade (low-grade heroin). Injection of intranasal
dissolved powder: mainlining, blast, smack.
Inhalation of powder: sniffing smoking
Cocaine Coke, snow, lady of the streets, nose candy,
3. Parenteral
ICE, snort, C, flake, rock, blow, vitamin C, crack,
shabu, baby subcutaneous
H&C Speed balls
intramuscular
Oxycontin Hillbilly heroin
intravenous (see FIG. 12.7 )
Miscellaneous
Fantasy GBH (grievous bodily harm), liquid G, liquid E,
liquid ecstasy, liquid X, fantasy
Barbiturates Devils, barbies, goof balls
Benzodiazepines Rowies, moggies
Ketamine ‘K’, vitamin K, special K, K hole
Solvents Chroming

Opioid (narcotic) dependence

This section will focus on heroin dependence, although opioids such as codeine and Page 119
controlled dose agents such as oxycodone and morphine are problematic.

Typical profile of a heroin-dependent person19

Page 120
Male or female: 16–30 years FIGURE 12.7 Intravenous heroin injection signs: linear tracks and scarring
from repeated venepunctures along the course of a vein. Less common sites
Family history: often severely disrupted, such as parental problems, early death, separation, are the lower leg, dorsum of foot, neck and dorsal vein of penis.
divorce, alcohol or drug abuse, sexual abuse, mental illness, lack of affection
Photo courtesy John Jagoda
Personal history: low threshold for toleration, unpleasant emotions, poor academic record,
failure to fulfil aims, poor self-esteem Opioid withdrawal effects19,20
First experiments with drugs are out of curiosity, and then regular use follows with loss of job,
These develop within 12 hours of ceasing regular usage. Maximum withdrawal symptoms
alienation from family, finally moving into a ‘drug scene’ type of lifestyle
usually occur between 36 and 72 hours and tend to subside after 10 days.
 Anxiety and panic Alienation from family, loss of employment, loss of assets, criminal activity (theft, burglary,
prostitution, drug trafficking)
Irritability
Management
Chills and shivering
Management is complex because it includes the medical management not only of physical
Excessive sweating dependence and withdrawal but also of the individual complex social and emotional factors. The
issues of impaired liver function, hepatitis B and C and HIV prevention also have to be
‘Gooseflesh’ (cold turkey)
addressed. Sociological tests for these illnesses should be considered.
Loss of appetite, nausea (possibly vomiting)
Patients should be referred to a treatment clinic and then a shared-care approach can be used. The
Lacrimation/rhinorrhoea treatments include cold turkey (abrupt cessation) with pharmacological support, acupuncture,
high doses of vitamin C, methadone substitution and drug-free community education programs.
Tiredness/insomnia
Maintenance programs that include counselling techniques are widely used for heroin
Muscle aches and cramps dependence. Acute toxicity requires injections of naloxone.

Abdominal colic Opioid withdrawal20

Diarrhoea Buprenorphine controlled withdrawal (short term) is used to prevent the emergence of a Page 121
withdrawal syndrome in contradistinction from buprenorphine maintenance, where there is an
A secondary abstinence syndrome is identified19 at 2–3 months and includes irritability, extended treatment period.
depression and insomnia.
Initial dose
Complications of opioid dependence
buprenorphine 4–8 mg (sublingual) as a single daily dose, increasing to 12 mg (max) on day 3,
Medical then reduce gradually over the next 3–5 days

Overdose reaction: agitation, respiratory depression—may include fatal cardiopulmonary Note: If autonomic signs, use clonidine 5–15 mg/kg/day (o) in 3 divided doses for 7–10 days
collapse. Since the early 2000s opioid deaths have fallen from peak levels of the 1990s, when then taper off. If anxiety and agitation, use diazepam 5–20 mg (o) qid (with care). Clonidine can
there was a glut of heroin. be used as first-line treatment because of relative safety but buprenorphine is preferred to
clonidine and methadone for the management of opioid withdrawal. Avoid benzodiazepines
Injection site: scarring, pigmentation, thrombosis, abscesses, ulceration (especially with unless supervision is available.
barbiturates)
Maintenance programs for long-term opioid dependence20
Distal septic complications: septicaemia, infective endocarditis, lung abscess, osteomyelitis,
ophthalmitis There are currently three alternative programs—methadone, buprenorphine and naltrexone—
which are substitutes for heroin and other opioids. Seek specialist advice for the management of
Viral infections: hepatitis B, hepatitis C (refer to CHAPTER 47 ), HIV infection (refer to these drugs.
CHAPTER 18 )
Methadone
Neurological complications: transverse myelitis, nerve trauma
Seek specialist advice before starting treatment. The dose needs to be determined individually
Physical disability: malnutrition according to past use and initial response to methadone.

Social methadone 20 mg (o) daily initially. Stabilise dose over 3 weeks. Beware of doses >40 mg,
especially in unwell patients. Maintenance 50–80 mg (o) daily. Usual maximum dose 120 mg.
Buprenorphine Cognitive behaviour therapy

buprenorphine 2–8 mg sublingual, once daily initially, increase to 8–24 mg daily or alternative Handle person carefully and respectfully
days once stabilised. It is less dependent and prone to overdose than methadone but can
precipitate withdrawal if used too soon. No firm evidence on effectiveness of drugs

Naltrexone Stimulant-withdrawal syndrome20

Care is required in giving naltrexone to a person physically dependent on opioids. A naloxone This syndrome should be suspected in people whose occupation involves shift work, interstate
challenge test is used.20 If no evidence of withdrawal give: transport driving or multiple jobs presenting with the following symptoms:

naltrexone 25 mg (o) initially, increasing to 50 mg daily on day 2 if tolerated. Careful drowsiness

supervision with appropriate counselling is required.
hypersomnia, then insomnia
The natural history of opioid dependence indicates that many patients do grow through their
period of dependence and, irrespective of treatments provided, a high percentage become irritability
rehabilitated by their mid-30s.
hyperphagia
Stimulant substance abuse aggressive behaviour
The stimulants include amphetamines and their analogues, ephedrine, designer drugs such as depression/dysphoria; may last months
MDMA and ‘fantasy’, cocaine and certain appetite suppressants. The amphetamines include the
common methamphetamine, dexamphetamine and the original amphetamines. Another urge to resume drugs
disturbing drug is the stimulant ‘monkey dust’, a synthetic cathinone, also known as ‘bath salts’
or MDPV. It is similar to the amphetamine designer drug ‘meow-meow’ (mephedrone). These Treatment
agents can induce a psychosis with dangerous behaviour including irrational risk taking and
violent behaviour. Psychological support and encouragement, e.g. CBT

Stimulant-induced syndrome20 Desipramine (or similar tricyclic antidepressant) 75 mg (o) nocte (increasing as necessary)

Bromocriptine 1.25 mg (o) bd has also been used for cocaine withdrawal
Aggressive behaviour

Paranoid behaviour Hallucinogen abuse

Irritability Hallucinogens in use include lysergic acid diethylamide (LSD), phencyclidine (angel Page 122
dust), the tropical plant products (Kava and Betel nuts) and many synthetics. Symptoms include
Transient toxic psychosis psychotic behaviour, including severe hallucinations. Withdrawal from these drugs is not usually
a problem but ‘flashbacks’ can occur. Treatment, especially where there is fear or anxiety, is
Delirium diazepam 10–20 mg (o) statim.
Schizophrenic-like syndrome
Treatment (medication to counter symptoms)14
Increased sexual behaviour
haloperidol 2.5–10 mg (o) daily
Treatment or
Withdrawal of drugs
 diazepam 10–20 mg (o) repeated every 2 hours prn (to max. 120 mg daily) Long-term use and addiction

Cannabis (marijuana) use The influence of pot has a severe effect on the personality and drive of the users. They lose their
energy, initiative and enterprise. They become bored, inert, apathetic and careless. A serious
Cannabis is a drug that comes from the plant Cannabis sativa, the Indian hemp plant. It is a effect of smoking pot is the inability to concentrate and loss of memory. Some serious problems
stimulant and a hallucinogen. It contains the chemical tetrahydrocannabinol, which makes people include:
get ‘high’. It is commonly called marijuana, grass, pot, dope, hash or hashish. Other slang terms
deterioration of academic or job performance
are Acapulco gold, ganga, herb, J, jay, hay, joint, reefer, weed, locoweed, smoke, tea, stick, Mary
Jane, Panama red and spliffy (see TABLE 12.5 ). Marijuana comes from the leaves, while
anxiety and paranoia
hashish is the concentrated form of the resinous substances from the head of the female plant and
can be very strong (it comes as a resin or oil). The drug is usually smoked as a leaf (marijuana) respiratory disease (more potent than tobacco for lung disease): causes COPD, laryngitis and
or a powder (hashish), or hashish oil is added to a cigarette and then smoked. The effects of rhinitis
taking cannabis depend on how much is taken, how it is taken, how often, whether it is used with
other drugs and on the particular person.21 The effects vary from person to person. The effects of often prelude to taking illicit drugs
a small-to-moderate amount include:
becoming psychotic (resembling schizophrenia): the drug appears to unmask an underlying
feeling of well-being and relaxation psychosis21
decreased inhibitions impaired ability to drive a car and operate machinery
woozy, floating feeling Withdrawal
lethargy and sleepiness
Sudden withdrawal produces insomnia, night sweats, nausea, depression, myalgia, irritability and
talkativeness and laughing a lot maybe anger and aggression. However, the effects are often mild with recovery within a few
days in many, but heavy users have a severe withdrawal.
red nose, gritty eyes and dry mouth
Management
unusual perception of sounds and colour
No specific pharmacological treatment is available. CBT is advisable.
nausea and dizziness
The best treatment is prevention. People should either not use it or limit it to experimentation. If
loss of concentration, slight cognitive impairment it is used, people should be prepared to sleep it off and not drive.

looking ‘spaced out’ or drunk

Anabolic steroid misuse
lack of coordination
The apparent positive effects of anabolic steroids include gains in muscular strength (in
delusions and hallucinations (more likely with larger doses) conjunction with diet and exercise) and quicker healing of muscle injuries. However, the adverse
effects, which are dependent on the dose and duration, are numerous.
a form called skunk or mad weed causes
paranoia Adverse effects in women are:

The effects of smoking marijuana take up to 20 minutes to appear and usually last 2 to 3 hours masculinisation—male-pattern beard growth
and then drowsiness follows.21 The effect on psychomotor function is similar to alcohol and this
suppression of ovarian function
can impair driving skills. The main problem is habitual use with the development of dependence;
dependence (addiction) is worse than originally believed. changes in mood and libido
 hair loss DHEA, methandienone, methyl
testosterone, nandrolone,
In adult men, adverse effects are: Page 123 oxandrolone, stanozolol,
testosterone,
feminisation: enlarged breasts, high-pitched voice tetrahydrogestrinone, tibolone,
zeronol
acne
S2 Peptide hormones, growth factors Growth hormone,
testicular atrophy and azoospermia and related substances corticotrophin, chorionic
gonadotrophin and LH (in
libido changes males), erythropoietin (EPO),
darbepoetin (dEPO), SERMS,
hair loss insulin and insulin-like growth
factor, ACTH
Severe effects with prolonged use include:
Note: Masking agents such as
liver function abnormalities, including hepatoma probenecid, epitestosterone,
diuretics and plasma expanders
tumours of kidneys, prostate are banned.

heart disease S3 Beta-2 agonists All oral beta-2 agonists,

including both optical isomers
In prepubescent children there can be premature epiphyseal closure with short stature. (except inhaled salbutamol,
eformoterol and salmeterol
according to recommended
Drugs in sport22 guidelines)
S4 Hormone antagonists and metabolic Aromatase inhibitors, e.g.
It is important for GPs to have a basic understanding of drugs that are banned and those Page 124 modulators anastrozole, letrozole; SERMS,
that are permissible for elite sporting use. The guidelines formulated by the International e.g. raloxifene, tamoxifen; other
Olympic Committee (IOC) Medical Commission and the World Anti-Doping Agency (WADA) anti-oestrogenic substances,
are generally adopted by most major sporting organisations.13 TABLES 12.6 and 12.7 e.g. clomiphene; myostatin
provide useful guidelines. The IOC’s list of prohibited drugs is regularly revised. Banned drug inhibitors; metabolic modulators
groups include stimulants, narcotics, cannabinoids (e.g. marijuana), anti-oestrogen agents (e.g. —insulins
tamoxifen), glucocorticosteroids (e.g. prednisolone), anabolic agents, diuretics and various
hormones. Banned methods include blood doping (the administration of blood, red blood cells S5 Diuretics and other masking agents Acetazolamide, frusemide,
and related blood products), enhancement of oxygen transfer (e.g. erythropoietin, efaproxiral), hydrochlorothiazide,
gene doping and pharmaceutical, chemical and physical manipulation (substances or methods triamterene, indapamide,
that alter the integrity and validity of the urine testing). spironolactone (and related
substances)
Prohibited substances in competition
Table 12.6 Prohibited list: World Anti-Doping Guide (valid 1 January S6 Stimulants Amiphenazole, amphetamines,
cocaine, ephedrine, ephedra,
2021)22 meldonium, mesocarb,
terbutaline,* adrenaline,
Classes Examples salmeterol,* salbutamol,*
Prohibited substances at all times selegiline, pseudoephedrine,
phenylpropanolamine,
S1 Anabolic agents Androstenediol, clenbuterol,
 modafinil, phentermine
Allowed All antibiotics, steam and menthol inhalations, cough mixtures
S7 Narcotics** Diamorphine (heroin), containing antihistamines, pholcodine, dextromethorphan,
methadone, morphine, dihydrocodeine
pethidine, pentazocine,
Banned Sympathomimetic products (e.g. ephedrine, phenylpropanolamine)
buprenorphine,
hydromorphone, oxycodone, Diarrhoea
oxymorphone, fentanyl Allowed Diphenoxylate, loperamide, products containing electrolytes (e.g.
S8 Cannabinoids Natural (e.g. cannabis, hashish, Gastrolyte)
marijuana) or synthetic THC Banned Products containing opioids (e.g. morphine)
and cannabimimetics (e.g.
‘spice’) Hayfever
S9 Glucocorticosteroids All glucocorticosteroids are Allowed Antihistamines, nasal sprays containing a corticosteroid or
prohibited when administered antihistamine, sodium cromoglycate preparations
by oral, IV, IM or rectal routes Banned Products containing ephedrine, pseudoephedrine
Substances prohibited in particular Pain
sports
Allowed Aspirin, codeine, dihydrocodeine, ibuprofen, paracetamol, tramadol, all
P1 Beta blockers Prohibited in competition only, NSAIDs, dextropropoxyphene
e.g. atenolol, carvedilol,
metoprolol, propranolol, timolol Banned Products containing opioids (e.g. morphine) or caffeine
(Check list and sports, e.g. Vomiting
archery, shooting, golf, skiing) Allowed Domperidone, metoclopramide
Prohibited methods
Ml Manipulation of blood and blood components (blood doping,
haemoglobin oxygen carriers) Restricted drugs include alcohol, marijuana, local anaesthetics, corticosteroids and beta blockers.
M2 Chemical and physical manipulation Practitioners can check the guidelines and provide written notification to the relevant authority.
Be cautious of anorectics and weight-reducing agents.
M3 Gene and cell doping
Other drug groups permitted by WADA:
*Permitted by inhaler but only with therapeutic use exemption (TUE).
**Caffeine, codeine, dextromethorphan, dextropropoxyphene, dihydrocodeine, tramadol, diphenoxylate and pholcodeine are permitted.
antidepressants
These lists are constantly being updated, so see www.wada-ama.org (World Anti-Doping Agency) or https://sportintegrity.gov.au for current
information.
antihypertensives (excluding beta blockers)

Table 12.7 Guidelines for treatment of specific conditions: International Olympic caffeine
Committee Medical Code 2008
eye medications

Asthma oral contraceptives

Allowed Salbutamol inhaler, salmeterol inhaler, terbutaline inhaler, formoterol skin creams and ointments
inhaler
Banned Sympathomimetic products (e.g. ephedrine, pseudoephedrine, sleeping tablets
isoprenaline, systemic beta-2 agonists), oral corticosteroids
Check websites including: www.olympic.org.
Cough
 Australian Government, Canberra: AIHW, 2004: 23–5.
Patient education resources
8 Nicotine e-cigarettes. Therapeutic Goods Administration, Department of Health. Available
Hand-out sheets from Murtagh’s Patient Education 8th edition: from: www.tga.gov.au/nicotine-e-cigarettes, accessed February 2021.

Alcohol: harmful use of alcohol 9 Murtagh JE. Alcohol abuse in an Australian community. Aust Fam Physician, 1987; 16:
20–5.
Amphetamines
10 National Health and Medical Research Council. Australian Guidelines to Reduce Health
Cocaine Risks from Drinking Alcohol. Canberra: NHMRC, 2020: 2–3. Available from:
https://www.nhmrc.gov.au/about-us/publications/australian-guidelines-reduce-health-
Ecstasy risks-drinking-alcohol, accessed February 2021.
Heroin 11 Alcohol and other drug problems [published 2013]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2013. https://www.tg.org.au, accessed
Smoking: quitting February 2021.
Cannabis (marijuana) 12 Mayfield D, McLeod G, Hall P. The CAGE questionnaire. Am J Psychiatry, 1974; 131:
1121–3.
Resources
13 National Health and Medical Research Council. Guidelines on Preventive Interventions in
Primary Health Care: Cardiovascular Disease and Cancer. No. 6. Alcohol Overuse.
Global DRO, Athletes, check your medications! (country-specific): www.globaldro.com; also
Canberra: NHMRC, 1996.
see Sport Integrity Australia (superseded ASADA): https://www.sportintegrity.gov.au/
14 Wallace P, Cutler S, Haines A. Randomised controlled trial of general practitioner
Department of Health, National drug campaign: www.campaigns.health.gov.au/drughelp
intervention in patients with excessive alcohol consumption. BMJ, 1988; 297: 663–8.
www.usada.org/substances/prohibited-list 15 Prochaska JO, DiClemente CC. Towards a comprehensive model of change. In: Miller
WRJ, Heath N, eds. Treating Addictive Behavior. New York: Plenum, 1986: 3–27.
References
16 Saunders JB, Roche AM. One in six patients in your practice. NSW medical education
Page 125
project on alcohol and other drugs. A drug offensive pamphlet. Sydney, 1989: 1–6.
1 Kumar PJ, Clark ML. Clinical Medicine (1st edn). London: Elsevier Saunders,
2009: 927–8. 17 Australian Institute of Health and Welfare. Alcohol, tobacco & other drugs in Australia
[Internet]. Canberra: Australian Institute of Health and Welfare, 2020. Available from:
2 Professor Greg Whelan, personal communication. https://www.aihw.gov.au/reports/alcohol/alcohol-tobacco-other-drugs-australia, accessed
17 February 2021.
3 Addiction Medicine [published 2013]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2013. https://www.tg.org.au, accessed February 2021.
18 Australian Institute of Health and Welfare. National Drug Strategy Household Survey
2019. Canberra: Australian Institute of Health and Welfare, 2020. Available from:
4 Silagy C et al. Nicotine replacement therapy for smoking cessation (Cochrane review). In:
https://www.aihw.gov.au/getmedia/77dbea6e-f071-495c-b71e-3a632237269d/aihw-phe-
The Cochrane Library, Issue 1, 2002. Oxford: Update software.
270.pdf.aspx?inline=true, accessed February 2021.
5 Zwar N (Chair). RACGP Expert Advisory Group Supporting Smoking Cessation (2nd edn).
RACGP, 2019: 31–4. 19 Jagoda J. Drug Dependence and Narcotic Abuse: Clinical Consequences. Course
Handbook. Melbourne: Monash University of Community Medicine, 1987: 66–71.
6 Mendelsohn C. Smoking cessation. Medical Observer, 28 February 2014: 21–6.
20 Psychotropic [updated 2021]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
7 Australian Institute of Health and Welfare. Alcohol and Other Drug Use in Australia. Guidelines Limited; 2021. https://www.tg.org.au, accessed February 2021.
21 Semple DM, McIntosh AM, Lawrie SM. Cannabis as a risk factor for psychosis: Page 126
systematic review. J Psychopharmacol, 2005; 19(2): 187–94.

22 WADA. What is Prohibited, 2021. Available from: www.wada-ama.org/en/content/what-

is-prohibited/.
13 Anaemia

There’s never none of these demure boys come to any proof; for thin drink doth so over cool
their blood, and making many fish-meals, that they fall into a kind of male green-sickness.

WILLIAM SHAKESPEARE (1564–1616), KING HENRY IV

Anaemia is a label, not a specific diagnosis. Anaemia is defined as a reduction in red blood cell
numbers or a haemoglobin (Hb) level below the normal reference level for the age and sex of
that individual.

The WHO defines anaemia as haemoglobin <130 g/L for men, <120 g/L for women and <110
g/L in pregnant women and school-aged children.

Anaemia: a masquerade
Anaemia is regarded as a masquerade because the problem can develop surreptitiously and the
patient may present with many seemingly undifferentiated symptoms before the anaemia is
detected. Once identified, a cause must be found.

Key facts and checkpoints

In Australia, most people with anaemia will have iron deficiency ranging from up
to 5% for children to 20% for menstruating females.1

The remainder will mainly have anaemia of chronic disorders.

The incidence of haemoglobinopathy traits, especially thalassaemia, is increasing

in multicultural Western societies.

If a patient presents with precipitation or aggravation of myocardial ischaemia,

heart failure or intermittent claudication, consider the possibility of anaemia.

The serum ferritin level, which is low in cases of iron-deficiency anaemia, is

probably the best test to monitor iron-deficiency anaemia as its level reflects the
 amount of stored iron. headache and tinnitus

Normal reference values for peripheral blood are presented in TABLE 13.1 . lack of concentration

faintness/dizziness

Table 13.1 dyspnoea on exertion

Normal reference values for peripheral
blood: adults palpitations

Male Female angina on effort

Haemoglobin (g/L) 130–180 115–165 intermittent claudication
Red cells (× 1012/L) 4.5–6 4–5.5
pica—usually brittle and crunchy food, e.g. ice (iron-deficiency anaemia)
PCV (haematocrit) 40–53 35–47
MCV (fL) 80–100 Signs
Platelets (× 109/L) 150–400 Non-specific signs include pallor, tachycardia, systolic flow murmur and angular cheilosis.
White cell count (× 109/L) 4–11
If severe, signs can include ankle oedema and cardiac failure.
Neutrophils 2.5–7.5
Specific signs include jaundice—haemolytic anaemia, and koilonychias (spoon-shaped Page 127
Lymphocytes 1.5–4
nails)—iron-deficiency anaemia.
Monocytes 0.2–1
Eosinophils <0.5 History
Reticulocytes (%) 0.5–2 The history may indicate the nature of the problem:
ESR (mm/hour) <20 mm
iron deficiency: inadequate diet, pregnancy, GIT loss, menorrhagia, NSAID and anticoagulant
<35 mm if >70 years ingestion

Source: Reproduced with permission from Dr M Gribble2 folate deficiency: inadequate diet especially with pregnancy and alcoholism, small bowel
disease

vitamin B12 deficiency: previous gastric surgery, ileal disease or surgery, pernicious anaemia,
DxT fatigue + palpitations + exertional dyspnoea → anaemia selective diets (e.g. vegetarian, fad)

haemolysis: abrupt onset anaemia with mild jaundice

Clinical features possibly lead toxicity, especially in children
Patients with anaemia may be asymptomatic. When symptoms develop they are usually non-
specific. Symptoms can include: Classification of anaemia
tiredness/fatigue The various types of anaemia are classified in terms of the red cell size—the mean corpuscular
volume (MCV):
muscle weakness
microcytic—MCV ≤ 80 fL
 macrocytic—MCV >100 fL particularly thalassaemia. Consider lead poisoning.

normocytic—MCV 80–100 fL
Note: Upper limit of MCV varies from 95–100 fL depending on age and laboratory.
TABLE 13.2 outlines a classification of some of the more common causes of anaemia
encountered in general practice. There can be an interchange of disorders between the above
groups; for example, the anaemia of chronic disorders (chronic infection, inflammation and
malignancy) can occasionally be microcytic as well as normocytic; the anaemia of
hypothyroidism can be macrocytic in addition to the more likely normocytic; the anaemia of
bone marrow disorder or infiltration can also be occasionally macrocytic.
Iron-deficiency anaemia3
Iron deficiency is the most common cause of anaemia worldwide. It is the biggest cause of
microcytic anaemia, with the main differential diagnosis of microcytic anaemia being a
haemoglobinopathy such as thalassaemia. However, it is caused by bleeding until proved
otherwise.
An understanding of the interpretation of iron studies is important in management.
Clinical and laboratory features

Table 13.2 Classification of anaemia by mean Microcytic anaemia

RBC volume (MCV) with selected Serum ferritin level low (NR: F 15–200 mcg/L: M 30–300 mcg/L)
causes
Serum iron level low
Microcytic (MCV < 80 fL)
Increased transferrin level
Iron deficiency
Thalassaemia Microcytic hypochromic red cells
Anaemia of chronic disease
MCV ↓, MCH ↓, MCHC ↓
Sideroblastic anaemia
Microcytic (MCV > 100 fL) Reduced transferrin saturation

Vitamin B12 deficiency Response to iron therapy

Folate deficiency
Myelodysplastic disorders Non-haematological effects of chronic iron deficiency
Cytotoxic drugs
Angular cheilosis/stomatitis
Liver disease/alcoholism
Glossitis
Normocytic (MCV 80–100 fL)
Kidney disease Oesophageal webs
Anaemia of chronic disease
Atrophic gastritis
Endocrine failure/hypothyroidism
Haemolysis Brittle nails and koilonychias
Aplastic anaemia
Causes1

Blood loss
Microcytic anaemia—MCV ≤80 FL
Menorrhagia
The main causes of microcytic anaemia are iron deficiency and haemoglobulinopathy, Gastrointestinal bleeding (e.g. carcinoma, haemorrhoids, peptic ulcer, hiatus hernia, GORD,
 NSAID therapy) Soluble transferrin receptor factor—this factor is increased in iron deficiency, but not in
chronic disease. Therefore, it is very helpful in differentiating iron deficiency from other
Frequent blood donations forms. It is an indirect marker of what is happening in the bone marrow.4
Malignancy The state of the iron stores is assessed by considering the serum iron, the serum ferritin and the
serum transferrin levels in combination. Typically, in iron deficiency, the serum iron and ferritin
Hookworm (common in tropics) levels are low and the transferrin high, but the serum iron level is also low in all infections—
severe, mild and even subclinical—as well as in inflammatory states, malignancy and other
Increased physiological requirements chronic conditions. Serum ferritin estimations are spuriously raised in liver disease of all types,
chronic inflammatory conditions and malignancy; transferrin is normally raised in pregnancy.
Prematurity, infant growth Since each of these estimations can be altered in conditions other than iron deficiency, all three
quantities have to be considered together to establish the iron status (see TABLE 13.3 ).2
Adolescent growth

Pregnancy
Table 13.3 The interpretation of iron studies2
Malabsorption

Coeliac disease Serum % Transferrin

Condition TIBC Ferritin
Fe saturation
Postgastrectomy
Iron deficiency ↓ N or ↑ ↓ ↓↓
Dietary β-thalassaemia N or ↑ N N or ↑ N or ↑
Anaemia of chronic ↓ N or ↓ ↓ N or ↑
Inadequate intake disease
Special diets (e.g. fad, vegetarianism) Sideroblastic anaemia N or ↑ N N or ↑ ↑

Pica—eating unnatural food, e.g. dirt, ashes Haemochromatosis ↑ ↓ ↑↑ ↑↑

Investigations N = normal

Page 128
Investigations are based on the history and physical examination, including the rectal Treatment4,5
examination. If GIT bleeding is suspected, the faecal occult blood test is not considered very
valuable but appropriate investigations include gastroscopy and colonoscopy, small bowel Correct the identified cause.
biopsy and small bowel enema.
Diet—iron-rich foods, vitamin C-rich foods (see TABLE 13.4 ). Iron is present in meat and
Haematological investigations: typical findings legumes as Fe+ + + and therefore requires gastric acid for conversion to Fe++.

Microcytic, hypochromic red cells Elemental iron supplements 100–200 mg daily (adults).

Anisocytosis (variation in size), poikilocytosis (shape)—pencil-shaped rods Iron preparations:

Low serum iron level oral iron (ferrous sulphate 1–2 tablets daily between meals for 6 months), e.g. Ferro-
Gradumet or Ferro-grad C (avoid taking with milk) with orange juice or ascorbic acid until
Raised iron-binding capacity Hb is normal

Serum ferritin level low (the most useful index) parenteral iron preferably by IV infusion is probably best reserved for special Page 129
 circumstances such as a failed trial of oral iron for symptomatic iron-deficiency anaemia
(there is a risk of an allergic reaction, a serum sickness-like illness for 48 hours and post-
infusion skin staining around the cannula site). Cover with an antihistamine or IV
hydrocortisone 30 minutes beforehand. Infusion is best with ferric carboxymaltose in 0.9%
(N) saline.6 Avoid blood transfusions if possible. IM iron is not recommended.
Monitor progress with regular serum ferritin levels.
A serum ferritin level >50 mcg/L generally indicates adequate stores.
Failure of iron therapy

Consider:
Table 13.4 Optimal adult diet for iron deficiency
poor compliance

Adults should limit milk intake to 500 mL a day while on iron tablets continuing blood loss
Avoid excess caffeine, fad diets and excess processed bread
malabsorption (e.g. severe coeliac disease)
Eat ample iron-rich foods (especially protein)
Protein foods incorrect diagnosis (e.g. thalassaemia minor, chronic disease)
Meats—beef (especially), veal, pork, liver, poultry bone marrow infiltration
Fish and shellfish (e.g. oysters, sardines, tuna)
Seeds (e.g. sesame, pumpkin) Thalassaemia
Eggs, especially egg yolk
This inherited condition is seen mainly (although not exclusively) in people from the
Fruits Mediterranean basin, the Middle East, north and central India and South-East Asia, including
Dried fruit (e.g. prunes, figs, raisins, currants, peaches) south China. The heterozygous form is usually asymptomatic; patients show little if any anaemia
Juices (e.g. prune, blackberry) and require no treatment. The condition is relatively common in people from these areas. The
Most fresh fruit homozygous form is a very severe congenital anaemia needing lifelong transfusional support but
is comparatively rare, even among the populations prone to thalassaemia (refer to
Vegetables CHAPTER 23 ).2
Greens (e.g. spinach, silver beet, lettuce)
The key to the diagnosis of heterozygous thalassaemia minor is significant microcytosis quite out
Dried peas and beans (e.g. kidney beans) of proportion to the normal Hb or slight anaemia, and confirmed by finding a raised HbA2 on Hb
Pumpkin, sweet potatoes electrophoresis. DNA screening analysis is now available. The importance of recognising the
Grains condition lies in distinguishing it from iron-deficiency anaemia, for iron does not help people
with thalassaemia and is theoretically contraindicated. Even more importantly, it lies in
Iron-fortified breads and dry cereals
recognising the risk that, if both parents have thalassaemia minor, they run a one in four chance
Oatmeal cereal of having a baby with thalassaemia major in every pregnancy, with devastating consequences for
For better iron absorption, add foods rich in vitamin C (e.g. citrus fruits, cantaloupe, both the affected child and the whole family.
Brussels sprouts, broccoli, cauliflower)
Treatment of thalassaemia major is transfusion to a high normal Hb with packed cells plus
desferrioxamine.

Response
Haemoglobin E
Anaemia responds after about 2 weeks and is usually corrected after 2 months (if underlying
cause addressed).1 This Hb variant is common throughout South-East Asia.4 It has virtually no clinical effects in
either the homozygous or heterozygous forms, but these people have microcytosis, which must
Oral iron is continued for 3 to 6 months to replenish stores. be distinguished from iron deficiency; moreover, if the HbE gene is combined with the
thalassaemia gene, the child may have a lifelong anaemia almost as severe as thalassaemia
major. Both genes are well established in the South-East Asian populations in Australia as well associated with progressive intractable neutropenia or thrombocytopenia or both, and progress
as in their own countries. slowly but relentlessly to be eventually fatal, terminating with infection, haemorrhage or, less
often, acute leukaemia.
Macrocytic anaemia—MCV >100 FL
Vitamin B12 deficiency (pernicious anaemia)
Page 130
Although well recognised, this is a much less common cause of macrocytosis than the foregoing
Alcohol and liver disease conditions. It is usually caused by lack of intrinsic factor due to autoimmune atrophic changes
and by gastrectomy. Anaemia does not develop for about 3 years after total gastrectomy. Vitamin
Each individually, or in combination, leads to macrocytosis with or without anaemia. The B12 deficiency may also be seen together with other deficiencies in some cases of malabsorption
importance of this finding lies in its often being the first indication of alcohol abuse, which can and Crohn disease.
so frequently go unnoticed unless there is a firm index of suspicion. Chronic liver disease due to
other causes may also be late in producing specific clinical symptoms. Vitamin B12 (cobalamin) is found in the normal diet but only in foods of animal origin and
consequently very strict vegetarians may eventually develop deficiency. Causes of food vitamin
Drug toxicity B12 deficiency are:4

Cytotoxic drugs, anticonvulsants in particular, and various others (see TABLE 13.5 ) may cause atrophic gastritis
macrocytosis. This is of little clinical significance and does not need correction unless associated
H. pylori infection
with anaemia or other cytopenia.
H2 receptor blockers
Table 13.5
Drugs causing macrocytosis2,5 PPI drugs

other drugs, e.g. OCP, metformin

Alcohol
Cytotoxics/immunosuppressants Azathioprine chronic alcoholism
Methotrexate, 5-fluorouracil
HIV
Antibiotics Cotrimoxazole, Pyrimethamine (incl. Fansidar
and Maloprim) strict vegan diet
Zidovudine The clinical features are anaemia (macrocytic), weight loss and neurological symptoms,
Anticonvulsants Phenytoin especially a polyneuropathy. It can precipitate subacute combined degeneration of the cord. The
Primidone serum vitamin B12 is below the normal level (normal range 150–700 pmol/L).
Phenobarbitone

Myelodysplastic syndromes Intrinsic factor antibody level is diagnostic.

These conditions have been recognised under a variety of names, such as ‘refractory anaemia’ Treatment (replacement therapy)1
and ‘preleukaemia’, for a long time, but only relatively recently have they been grouped together.
They are quite common in the elderly but may be seen in any age group (refer to TABLE 13.2 ). Vitamin B12 (1000 mcg, i.e. 1 mg) IM injection; body stores (3–5 mg) are replenished after
10–15 injections given every 2 to 3 days
These conditions frequently present as a macrocytic anaemia with normal serum vitamin B12
and red cell folate, and are unresponsive to these or any other haematinics. They are usually Maintenance with 1000 mcg injections every third month
 Can use crystalline oral B12
Co-therapy with oral folate 5 mg/day (initially) is indicated.9,10
Transfusion is best avoided. May need additional iron.
Folic acid deficiency
Page 131
Diagnostic test: serum folate (normal range 7–45 nmol/L) and red cell folate—best test
(normal >630 nmol/L).7
The main cause is poor intake associated with old age, poverty and malnutrition, usually
associated with alcoholism. It may be seen in malabsorption and regular medication with anti-
epileptic drugs such as phenytoin.9 It is rarely, but very importantly, associated with pregnancy,
when the demands of the developing fetus together with the needs of the mother outstrip the
dietary intake—the so-called ‘pernicious anaemia of pregnancy’ which, if not recognised and
treated immediately, can still be a fatal condition. Unlike vitamin B12, folic acid is not stored in
the body to any significant degree and requirements have to be satisfied by the daily dietary
intake, which invariably meets the requirement of 5–10 mcg/day. Folic acid is present in most
fruit and vegetables, especially citrus fruits, nuts and green leafy vegetables (see CHAPTER 5 ).
Treatment (replacement therapy)
Oral folate 5 mg/day to replenish body stores (5–10 mg). This takes about 4 weeks but continue
for 4 months. Vitamin B12 is usually given unless levels normal.
Normocytic anaemia2 (anaemias without change
in the MCV)
Acute haemorrhage
This is the most common cause of normocytic anaemia and is usually due to haematemesis
and/or melaena.
Chronic disease
Chronic inflammation
Intercellular iron transport within the marrow is suppressed in inflammation so that, despite
normal iron stores, the developing red cells are deprived of iron and erythropoiesis is depressed.
If the inflammation is short-lived, the fall in Hb is not noticeable but, if it continues, an anaemia
may develop that responds only when the inflammation subsides.
Malignancy
Anaemia may develop for the same reasons that apply to chronic inflammation.
Kidney failure
This is often associated with anaemia due to failure of erythropoietin secretion and is
unresponsive to treatment, other than by alleviating the insufficiency or until erythropoietin is
administered.
Haemolysis
Suspect haemolytic anaemia if there is a reticulocytosis, mild macrocytosis, reduced haptoglobin,
increased bilirubin and urobilinogen. Haemolytic anaemias are relatively infrequent. The more
common of the congenital ones are hereditary spherocytosis, sickle-cell anaemia and deficiencies
of the red cell enzymes, pyruvate kinase and G-6-PD, although most cases of G-6-PD deficiency
haemolyse only when the patient takes oxidant drugs such as sulphonamides or eats broad beans
—‘favism’.
Acquired haemolytic anaemias include those of the newborn due to maternal haemolytic blood
group antibodies passing back through the placenta to the fetus, and adult anaemias due to drug
toxicity or to acquired autoantibodies. About half of the latter are idiopathic and half associated
with non-Hodgkin lymphomas, and the anaemia may be the presenting sign of lymphoma. Some
of these antibodies are active only at cool temperatures—cold agglutinin disease; others act at
body temperature and are the more potent cause of autoimmune haemolytic anaemia.
Keep in mind the rare acquired genetic disorder of paroxysmal nocturnal haemoglobinuria if
dark morning urine is observed in the presence of anaemia. Flow cytometry is required for
diagnosis.
Aplastic anaemia
This presents with clinical features of anaemia (Hb ↓), infection (WCC ↓) or bleeding (platelets
↓). Hypoplasia of bone marrow causes pancytopenia and normoctyic normochromic anaemia.
Most cases are due to an autoimmune disorder; others are due to drugs and radiotherapy.
Diagnosis is by bone marrow examination. Treatment includes supportive care and options such
as immunotherapy, allogeneic bone marrow transplantation, stem cell transplantation and
haemopoietic grow factors such as erythropoietin.11
Bone marrow replacement
This may be due to foreign tissue, such as carcinomatous metastases, or fibrous tissue, Page 132
as in myelofibrosis; it may also be due to overgrowth by one or other normal elements of the
bone marrow, as in chronic myeloid leukaemia, chronic lymphocytic leukaemia and lymphoma,
as well as by acute leukaemic tissue. A leuco-erythroblastic picture, in which immature red and
white cells appear in the peripheral blood, is often seen when the marrow is replaced by foreign Prevention
tissue.
Give iron and multivitamin supplements to very premature and low birthweight (<1000 g)
infants.
Anaemia in children
Introduce iron-containing solids early—at 4 to 5 months, e.g. cereals, vegetables, egg and
Haemoglobin reference range meat.

Encourage breastfeeding and avoid cow’s milk in the first 12 months.9

Infant Term (cord blood) 135–195 g/L
3–6 months 95–135 g/L Avoid excessive cow’s milk up to 24 months.
Child 1 year 105–135 g/L
Use iron-fortified formulas and cereals.
3–6 years 105–140 g/L
10–12 years 115–145 g/L Important sources of iron

Infant milk formulas, meat (especially red meat, and also fish and chicken), green vegetables and
Important causes of anaemia in childhood include iron-deficiency anaemia (quite common), legumes, dried fruit, juices, fortified cereals, egg yolk.
thalassaemia major, sickle-cell anaemia and drug-induced haemolysis. Consider one of the
haemoglobinopathies in children of Mediterranean, South-East Asian, Arabic or African– Treatment
American descent, especially with a family history, normal ferritin level or anaemia resistant to
iron therapy. Investigate with Hb electrophoresis. Treatment is mainly with ferrous gluconate (1 mL/kg of 300 mg/5 mL mixture). Continue for 3
months after Hb has normalised.
Drugs that can cause haemolysis (the film will have reticulocytosis, spherocytosis and
fragmented red cells) include some antibiotics (e.g. sulfamethoxazole), antimalarials and some
anti-inflammatories.
Practice tips

Think of anaemia in adolescents, especially females with a rapid growth spurt at menarche and a
relatively poor diet.
Iron deficiency in children10
Iron deficiency is present in up to 10–30% of children in high-risk groups.
It is often subclinical and anaemia develops in relatively few.
It can lead to reduced cognitive and psychomotor performance (even without anaemia).
High-risk groups include those infants <6 months who are premature and/or with low
birthweight; toddlers 6–36 months with a diet high in cow’s milk and low in iron-containing
foods; those exclusively breastfed after 6 months; those with delayed introduction of solids;
those with general poor food intake; and those with lack of vitamin C in their diet. Bottle-
feeding encourages a high milk intake and reduces the appetite for solid food.
Possible clinical features include irritability, lethargy, minor behavioural changes, poor
growth, dyspnoea and pallor.
Iron-deficiency anaemia is blood-loss anaemia until proved otherwise.
It is possible to be tired from iron deficiency without anaemia.
Blood-loss anaemia is usually due to menorrhagia or gastrointestinal loss until
proved otherwise.
Investigations for suspected anaemia should include FBE, ESR and iron studies.
Others to consider are Hb electrophoresis, vitamin B12 and folate levels, and
kidney function tests.
Hypothyroidism can cause a normocytic or a macrocytic anaemia.
A therapeutic trial of iron (without investigations) is indefensible.
Intramuscular injections of iron can tattoo so use with care: an IM iron dose is not
‘stronger’ than an oral iron dose.
If microcytic anaemia is not responding to treatment, consider sideroblastic
anaemia.

Patient education resource
Hand-out sheet from Murtagh’s Patient Education 8th edition:
Iron deficiency anaemia
References
1 Van Der Weyden M. Anaemia. In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 26–9.
2 Gribble M. Haematology. Check Program 188. Melbourne: RACGP, 1987: 3–12.
3 Hang W, Gibson J. Iron deficiency anaemia. Medical Observer, 4 April 2014: 21–6.
4 Coghlan D, Campbell P. Anaemia: how to treat. Australian Doctor, 8 November 2002: I–
VIII.
5 Powers, JM et al. Diagnosis and management of iron deficiency anaemia. Hematol Oncol
Clin North Am 2014, Aug; 28(4): 729–45. [PMID: 26289639]
6 Avni T et al. The safety of intravenous iron preparations: systemic review and meta-
analysis. Mayo Clin Proc, January 2015; 90(1): 12–23. [PMID: 25572192]
7 Farrell CT et al. Red cell or serum folate: what to do in clinical practice. Clin Chem Lab
Med, March 2013; 51(3): 555–69. [PMID: 23449524]
8 Dickinson M et al. Haematology. Check Program 439. Melbourne: RACGP, 2008: 4–10.
9 Schrier S. UpToDate. Macrocytosis (16.1 edn). UpToDate, 2008.
10 Thomson K et al. Paediatric Handbook (8th edn). Melbourne: Wiley-Blackwell Science,
2009: 360–3.
11 Bacigalupo A. Bone marrow transplantation for acquired severe aplastic anaemia. Hematol
Oncol Clin North Am, Dec 2014; 28(6): 1145–55.
Page 134
Page 133
14 Endocrine and metabolic disorders
It would indeed be rash for a mere pathologist to venture forth on the uncharted sea of the
endocrines, strewn as it is with the wrecks of shattered hypotheses, where even the most wary
mariner may easily lose his way as he seeks to steer his bark amid the glandular temptations
whose siren voices have proved the downfall of many who have gone before.
WILLIAM BOYD (1885–1979)
Endocrine, particularly thyroid, disorders can be a diagnostic trap in family practice and early
diagnosis is a real challenge. A family practice of 2500 patients can expect one new case of
thyroid disorder each year and 10 ‘cases’ in the practice.1 Thyroid disease can be classified as
thyroid dysfunction or structural, e.g. goitre. The diagnosis of an overactive or underactive
thyroid can be difficult as the early clinical deviations from normality can be subtle.
The clinical diagnosis of classical Graves disease is usually obvious with the features of
exophthalmos, hyperkinesis and a large goitre, but if the eye and neck signs are absent it can be
misdiagnosed as an anxiety state. Elderly patients may present with only cardiovascular signs,
such as atrial fibrillation and tachycardia, or with unexplained weight loss.
The hypothyroid patient can be very difficult to diagnose in the early stages, especially if the
patient is being seen frequently. Hypothyroidism often has a gradual onset with general
symptoms such as constipation and lethargy.
If suspected, only serum thyroid stimulating hormone (TSH) or thyrotropin should be requested
initially.2
Other common endocrine disorders include diabetes mellitus, hyperprolactinaemia, calcium
metabolic disorder, PCOS, sexual dysfunction and subclinical hypogonadism. They may be
difficult to diagnose in the early stages of development. The pituitary is the master gland and its
regulating hormones are depicted in FIGURE 14.1 .3,4
 TSH free T4 free T3 Antithyroid
antibodies
Normal range 0.4–4 mU/L 10–25 pmol/L 2.6–6.0 pmol/L
Hypothyroidism
Primary (overt) ↑* ↓* N or ↓ (not N or ↑
useful)
Subclinical ↑ N N N
Secondary N or ↓ ↓ N or ↓ (not N
(pituitary useful)
dysfunction)
Hyperthyroidism ↓* ↑* ↑* N or ↑
(overt)
Subclinical ↓ N N N
Sick euthyroid N or ↓ N or ↓ N or ↓ N
FIGURE 14.1 Pituitary hormones

Thyroid disorders Notes: Results similar to hyperthyroidism can occur with acute psychiatric illness.
Normal ranges vary between laboratories.
*Main tests

Tests for thyroid disorders3,4 Thyroid autoantibodies

Thyroid function tests Positive autoantibodies are specific for the following:2

Advances in technology have allowed the biochemical assessment of thyroid function to change
dramatically in recent years with the introduction of the serum free thyroxine (T4) and the
monoclonal TSH assays. With the highly sensitive TSH assays it is now possible to distinguish
suppressed TSH levels (as in hyperthyroidism) from low and normal levels of TSH. However,
the new assays are not foolproof and require interpretation in the context of the clinical picture.
The serum TSH level is the most sensitive index of thyroid function and is the preferred test for
suspected thyroid dysfunction. If necessary, repeat TSH in 3–6 months.
Serum free tri-iodothyronine (T3) measurement and serum free thyroxine (T4) can be useful in
suspected T3 toxicosis where serum T4 level may be normal, and for monitoring patients with
treated thyroid dysfunction.
The relative values are summarised in TABLE 14.1 . hyperthyroidism. A functioning nodule is said to be less likely to be malignant than a non-
Table 14.1
Summary of thyroid function tests3
TSH receptor antibodies (TR Ab): Graves disease
Thyroid peroxidase antibodies (TPO Ab): Hashimoto disease
Thyroglobulin antibody (Tg Ab): Hashimoto disease
Fine-needle aspiration
This is the single most cost-effective investigation in the diagnosis of thyroid nodules. It is the
best way to assess a nodule for malignancy. Care needs to be taken in the interpretation of the
cytology results in conjunction with an experienced cytologist/pathologist.
Thyroid nuclear scan and imaging
The scan may help in the differential diagnosis of thyroid nodules and in causes of
functioning nodule (cyst, colloid nodule, haemorrhage are non-functioning; carcinoma is usually
non-functioning).
Thyroid ultrasound
Page 135
A thyroid ultrasound is usually more sensitive in the detection of thyroid nodules. A
multinodular goitre may be diagnosed on ultrasound while the clinical impression may be that of cold intolerance
a solitary nodule (the other nodules not being palpable clinically). A multinodular goitre is said
to be less likely to be malignant than a solitary thyroid nodule. An ultrasound allows for follow- tiredness/lethargy/somnolence
up of thyroid nodule(s) to note if there are any changes in size over a period of time and to then
discuss appropriate intervention with the patient. It can also differentiate a solid from a cystic physical slowing
mass.
mental slowing
CT scan depression
CT scan of the thyroid may be used particularly to determine if there is significant compression huskiness of voice
in the neck from a large multinodular goitre with retrosternal extension. Again, follow-up CT
scans may allow one to determine the progression or otherwise of such a goitre. puffiness of face and eyes

Hypothyroidism (myxoedema) pallor

Primary hypothyroidism, which is relatively common, is more prevalent in elderly women (up to loss of hair
5%).5 The term myxoedema refers to the accumulation of mucopolysaccharide in subcutaneous weight gain
tissues. The early changes are subtle and can be misdiagnosed, especially if only a single
symptom is dominant.
DxT tiredness + husky voice + cold intolerance → myxoedema
Transient causes include subacute thyroiditis, postpartum thyroiditis and silent thyroiditis.

Common causes of primary hypothyroidism include radioactive iodine treatment, thyroid surgery
and Hashimoto thyroiditis. Physical examination
Page 136
Patients at risk include those with: See FIGURE 14.2 . The main signs are:

previous Graves disease sinus bradycardia

autoimmune disorders (e.g. autoimmune lymphocytic thyroiditis, rheumatoid arthritis, type 1 delayed reflexes (normal muscular contraction, slow relaxation)
diabetes)
coarse, dry and brittle hair
Down syndrome
thinning of outer third of eyebrows
Turner syndrome
dry, cool skin
drug treatment: lithium, amiodarone, interferon, iodine
skin pallor or yellowing
previous thyroid or neck surgery
obesity
previous radioactive iodine treatment of the thyroid
goitre
Clinical features
The main features are:

constipation
 General Lethargy, tiredness Weakness
Dry skin Sweaty skin,
Husky voice especially hands

Psychiatric Depression Anxiety/irritability

Dementia Hyperkinesis
Psychosis (myxoedema Psychosis
madness)
Musculoskeletal Myofibrositis Muscle weakness
Myalgia Proximal myopathy
Joint effusions
Skin Dry, cool skin Warm, thin, soft,
Vitiligo moist skin
Vitiligo
Pretibial myxoedema
Cardiovascular Ischaemia Tachycardia
Cardiomegaly Atrial fibrillation
Pericardial effusion Heart
Bradycardia failure/breathlessness
Hyperlipidaemia Systolic hypertension

Endocrine Galactorrhoea Goitre

Goitre Gynaecomastia
Infertility
Gynaecological Menstrual irregularity Other menstrual
Menorrhagia (mainly) disturbances
Oligomenorrhoea
Oligomenorrhoea
Neurological Neuropathy Periodic paralysis
Nerve entrapment (e.g. Tremor
carpal tunnel)
Ataxia
FIGURE 14.2 Clinical features of hypothyroidism
Haematological Anaemia –
Other diverse presentations of thyroid disorders are given in TABLE 14.2 .
Emergency Myxoedema coma Thyroid crisis
Postanaesthetic
hypoventilation
Table 14.2 Various diverse presentations of thyroid disorders3,5 Other Reduced libido Reduced libido
Weight gain Eye signs
Hypothyroidism Hyperthyroidism
 Cold intolerance Fever (uncommon) Management6,7,8
Constipation Onycholysis Page 138
Confirm the diagnosis, provide appropriate patient education and refer the patient
Premature grey hair
where appropriate.
Weight loss
Exclude coexisting hypoadrenalism and ischaemic heart disease before T4 replacement.

Note: Treatment as primary hypothyroidism when hypopituitarism is the cause may precipitate
Hashimoto thyroiditis (autoimmune thyroiditis) adrenal crisis.
Hashimoto thyroiditis, or lymphocytic thyroiditis, which is an autoimmune thyroiditis, is the
Thyroid medication
commonest cause of bilateral non-thyrotoxic goitre in Australia. Features are:
Levothyroxine (thyroxine) 50–100 mcg daily, increasing by 25 mcg up to 100–200 mcg if
bilateral goitre
required
classically described as firm and rubbery
Note: Start with low doses (25–50 mcg daily) in >60 years and those with ischaemic heart
patients may be hypothyroid or euthyroid with a possible early period of Page 137
disease and 50–100 mcg in others. Avoid overdosage.
thyrotoxicosis
Aim to achieve TSH levels of 0.5–2 mU/L.
Diagnosis is confirmed by a strongly positive antithyroid microsomal antibody (TPO Ab) titre
Monitor TSH levels 6–8 weeks at first. As euthyroidism is achieved, monitoring may be less
and/or fine-needle aspiration cytology.4 frequent (e.g. 2–3 months). When stable on optimum dose of T4, monitor every 2–3 years.
Hashimoto thyroiditis may present as postpartum hypothyroidism. The hypothyroidism may Treatment is usually lifelong.
resolve in 6–12 months or may be permanent.4
Special treatment considerations
Laboratory diagnosis of hypothyroidism
Ischaemic heart disease. Rapid thyroxine replacement can precipitate myocardial infarction,
Thyroid function tests (see TABLE 14.1 ): especially in the elderly.

T4—subnormal Pregnancy and postpartum. Continue thyroxine during pregnancy; watch for hypothyroidism
(an increased dose of T4 is often required).
TSH—elevated (>10 is clear gland failure)
Elective surgery. If euthyroid, can stop thyroxine for one week. If subthyroid, defer surgery
If T4 is low and TSH is low or normal, consider pituitary dysfunction (secondary until euthyroid.
hypothyroidism) or sick euthyroid syndrome. A raised TSH and T4 in normal range denotes
Myxoedema coma. Urgent hospitalisation under specialist care is required. Intensive treatment
‘subclinical’ hypothyroidism and treatment is appropriate albeit controversial.2,3 is required, which may involve parenteral T4 or T3 as liothyronine or thyroxine by slow IV
injection.
Interpretation of TFTs can be difficult but requires matching to the clinical ‘picture’ and
consultant advice.
Myxoedema coma
Other tests This is a life-threatening emergency with coma, extreme hyperthermia, areflexia and respiratory
depression. Precipitating factors include illness, infection, trauma and cold. Treatment is
Serum cholesterol level elevated
supportive care, IV thyroxine or liothyronine and corticosteroids. Convert to oral T4 when stable.
Anaemia: usually normocytic; may be macrocytic
Neonatal hypothyroidism
ECG: sinus bradycardia, low voltage, flat T waves
Misdiagnosing this serious condition leads to failure to thrive, retarded growth and poor school
performance. If untreated it leads to permanent intellectual damage (cretinism). The clinical
features of the newborn include coarse features, dry skin, supra-orbital oedema, jaundice, harsh
cry, slow feeding and umbilical hernia. It is detected by routine neonatal heel-prick blood testing.
Thyroxine replacement should be started as soon as possible, at least before 2 weeks of age, to
avert intellectual retardation.

When to refer—hypothyroidism5,7
Doubt about diagnosis, diagnostic tests or optimum replacement dosage

Apparent secondary hypothyroidism, severe illness and associated ischaemic heart disease

Concurrent autoimmune disease

Hypothyroidism with goitre, postpartum thyroid dysfunction and in the neonate

Myxoedema coma

Hyperthyroidism (thyrotoxicosis)
Hyperthyroidism is also relatively common and may affect up to 2% of women, who are affected
four to five times more often than men (see FIG. 14.3 ). Graves disease is the most common
cause, followed closely by nodular thyroid disease.
 Page 139

FIGURE 14.3 Thyrotoxicosis patient with exophthalmos and goitre DxT anxiety + weight loss + weakness → thyrotoxicosis

Photo courtesy Duncan Topliss

Physical examination
Causes4,9
See FIGURE 14.4 . Signs are (usually):
Graves disease (typical symptoms with a diffuse goitre and eye signs)
agitated, restless patient
Autonomous functioning nodules/toxic adenoma
warm and sweaty hands
Subacute thyroiditis (de Quervain thyroiditis)—viral origin (suspect if painful thyroid and
malaise) fine tremor (place paper on hands)
Excessive intake of thyroid hormones—thyrotoxicosis factitia goitre
Exogenous iodine excess, e.g. food contamination proximal myopathy
Amiodarone (beware of this drug) hyperactive reflexes

bounding peripheral pulse

Key facts and checkpoints ± atrial fibrillation

The classic symptoms may be lacking in elderly patients who may have only
cardiovascular manifestations (e.g. unexplained heart failure or cardiac
arrhythmias).

Care has to be taken not to dismiss hyperthyroidism as severe anxiety.

Clinical features
Heat intolerance

Sweating of hands

Muscle weakness

Weight loss despite normal or increased appetite

Emotional lability, especially anxiety, irritability

Palpitations

Frequent loose bowel motions

 Investigations
T4 (and T3) elevated

TSH level suppressed

Radioisotope scan

Antithyroid peroxidase (TPO Ab)—often positive

The isotope scan enables a diagnosis of Graves disease to be made when the scan shows uniform
increased uptake. Increased irregular uptake would suggest a toxic multinodular goitre, while
there is poor or no uptake with de Quervain thyroiditis and thyrotoxicosis factitia.

Management
Establish the precise cause before initiating treatment.

Refer to an endocrinologist to guide treatment.

Educate patients and emphasise the possibility of development of recurrent hyperthyroidism or

hypothyroidism and the need for lifelong monitoring.

Monitor for cardiovascular complications, osteoporosis and eye problems.

Treatment10,7,8
Radioactive iodine therapy (131I)

Thionamide antithyroid drugs (initial doses)

carbimazole 10–45 mg (o) daily starting with 10–20 mg in divided doses depending on
disease activity

or

propylthiouracil 200–600 mg (o) daily in divided doses or methimazole

FIGURE 14.4 Clinical features of hyperthyroidism
Adjunctive drugs
Eye signs beta blockers (for symptoms in acute florid phase, e.g. propranolol 10–40 mg, 6 to 8
hourly); diltiazem or atenolol are alternatives
Lid retraction (small area of sclera seen above iris)
lithium carbonate (rarely used when there is intolerance to thionamides)
Lid lag
Lugol’s iodine: mainly used prior to surgery
Exophthalmos
Surgery Page 140
Ophthalmoplegia in severe cases
 subtotal thyroidectomy
or
total thyroidectomy
Treatment (Graves disease)
There is no ideal treatment and selection of antithyroid drugs, radioiodine or surgery depends on
many factors, including age, size of goitre, social and economic factors and complications of
treatment. Encourage cessation of smoking.
Guidelines10,8
Younger patients with small goitres and mild case—18-month course antithyroid drugs
Older patients with small goitres—as above or radioiodine (preferably when euthyroid)
Large goitres or moderate-to-severe cases—antithyroid drugs until euthyroid, then surgery or
131I
In Australia (as in the US) 131I is being increasingly used
Treatment (autonomous functioning nodules and toxic adenoma)
Page 141
Control hyperthyroidism with antithyroid drugs, then surgery or 131I. Long-term
remissions on antithyroid drugs in a toxic nodular goitre are rare.
Subacute thyroiditis (de Quervain thyroiditis)8
Hyperthyroidism is usually transient for 1–2 months, and follows a surge of thyroxine after a
viral-type illness, then followed by hypothyroidism for 4–6 months. Symptoms include pain
and/or tenderness over the goitre (especially on swallowing), fever, ESR elevated, TPO Ab low
or absent and radionuclide scan near absent uptake. In the acute phase treatment is based on rest,
analgesics (aspirin 600 mg (o) 4–6 hourly) or ibuprofen 200–400 mg (o) and soft foods. Rarely,
when pain is severe, corticosteroids (e.g. prednisolone) may be used. Antithyroid drugs are not
indicated but beta blockers can be used to control symptoms.
Painless postpartum thyroiditis
Release of thyroid hormone from autoimmune destruction of thyroid. Typically 1–6 months post
delivery. Hyperthyroidism initially, followed by hypothyroidism. Diffuse small goitre, poor
radionuclide uptake, high TPO Ab. Treat with beta blockers for symptoms and thyroxine for
hypothyroid phase.
Note: Autoimmune destruction of the thyroid with thyroiditis—painless or painful—can lead to
agranulocytosis, so monitor for signs of fever or mouth ulcers.
Thyroid crisis (thyroid storm)8
Clinical features are marked anxiety, weight loss, weakness, proximal muscle weakness,
hyperpyrexia, tachycardia (>150 per minute), heart failure and arrhythmias. It is usually
precipitated by surgery or an infection in an undiagnosed patient.
It requires urgent intensive hospital management with antithyroid drugs; IV saline infusion, IV
corticosteroids, anti-heart failure and antiarrhythmia therapy, especially beta blockers.
When to refer—hyperthyroidism9
Doubt about the diagnosis
Severe hyperthyroidism, especially if there is coexisting thyrocardiac disease
Pregnant patients with hyperthyroidism
Progression of exophthalmos; eye disease
Ideally all cases
Goitre
Thyroid enlargement may be diffuse or multinodular. Diffuse causes include physiological,
Graves disease, thyroiditis (Hashimoto or de Quervain), iodine deficiency or it can be hereditary.
Investigations include TFTs, needle biopsy, ultrasound and CXR. Management is supportive;
thyroxine if TSH elevated (may lead to marked regression) and subtotal or total thyroidectomy.
Thyroid nodules
A thyroid nodule is defined as a discrete lesion on palpation and/or ultrasonography that is
distinct from the rest of the thyroid gland.
Causes
Dominant nodule in a multinodular goitre (most likely)
Colloid cyst
True solitary nodule: adenoma, carcinoma (papillary or follicular)
Investigations
 Ultrasound imaging MRI: consider if headache, etc

Fine-needle aspiration cytology Refer for management, which may include a dopamine agonist such as cabergoline or
bromocriptine, surgical resection (rarely necessary) or radiotherapy.
Thyroid function tests
Acromegaly
Thyroid carcinoma8
Symptoms suggestive of acromegaly include:
The main presentations are a painless nodule, a hard nodule in an enlarged gland or
lymphadenopathy. Papillary carcinoma is the most common malignancy. Although rare excessive growth of hands (increased glove size)
compared with non-malignant lesions (such as colloid nodules, cysts, haemorrhage and benign
adenomas), it is important not to miss carcinoma because of the very high cure rate with expert- excessive growth of tissues (e.g. nose, lips, face)
directed treatment. This often involves total thyroidectomy, ablative 131I treatment, thyroxine
replacement and follow-up with serum thyroglobulin measurements, 131I/thallium scanning and excessive growth of feet (increased shoe size)
neck ultrasound. Fine-needle aspiration is the investigation of choice. increased size of jaw and tongue; kyphosis

Pituitary disorders general: weakness, sweating, headaches

sexual changes, including amenorrhoea and loss of libido

Pituitary tumours 9
disruptive snoring (sleep apnoea)
These account for 10% of intracranial tumours and are invariably benign adenomas. They can
present with hormone deficiencies, features of hypersecretory syndromes (e.g. prolactin, GH, deepening voice
ACTH) or by local tumour mass symptoms (e.g. headache, visual field loss, seizures, cranial
DxT nasal problems + fitting problems (e.g. rings, shoes) + sweating →
nerve 3, 4, 6 palsy).
acromegaly

Hyperprolactinaemia11
Page 142 Diagnosis9,12
The main causes (of many) are a pituitary adenoma (prolactinoma; micro- or macro),
pituitary stalk damage, drugs—such as antipsychotics, various antidepressants, metoclopramide, Plasma growth hormone excess
cimetidine, oestrogens, opiates, marijuana—and physiological causes such as pregnancy and
breastfeeding. Elevated insulin-like growth factor 1 (IGF-1) (somatomedin)—the key test

Clinical features X-ray skull and hands

Symptoms common to males and females: reduced libido, subfertility, galactorrhoea (mainly MRI scanning pituitary
females)
Consider associated impaired glucose tolerance/diabetes
Females: amenorrhoea/oligomenorrhoea
Obtain old photographs (if possible).
Males: erectile dysfunction, reduced facial hair
Treatment options: transsphenoidal pituitary microsurgery, drugs and radiotherapy.
Diagnosis
Diabetes insipidus and SIADH
Serum prolactin and macroprolactin assays
Impaired secretion of vasopressin (antidiuretic hormone) from the posterior pituitary leads to
polyuria, nocturia and compensatory polydipsia, resulting in the passage of 3–20 L of dilute
urine per day. There are several causes of diabetes insipidus (DI), the commonest being
Adrenal disorders
postoperative (hypothalamic-pituitary), which is usually transient only. Other causes of cranial
DI include tumours, infections and infiltrations. In nephrogenic DI the kidney tubules are Page 143
insensitive to vasopressin. Differential diagnosis includes compulsive (psychogenic) water The primary zones of the adrenal gland and their
drinking. The syndrome of secretion of inappropriate antidiuretic hormone (SIADH) is caused by
cancer (e.g. lung, lymphomas, kidney, pancreas), pulmonary disorders, various intracranial secretions
lesions and drugs such as carbamazepine and many antipsychotic agents. Management of
SIADH is essentially fluid restriction. Cortex

The treatment of DI is desmopressin, usually given twice daily intranasally. Zona glomerulosa—mineral corticoids, especially aldosterone

Zona fasciculata—glucocorticoids
DxT weakness + polyuria + polydipsia → diabetes insipidus
Zona reticularis—androgens, especially DHEA

Medulla
Hypopituitarism8 Catecholamines—epinepherine, norepinephrine

This rare disorder (acute or chronic) should be considered with: It is worth keeping in mind these uncommon disorders of the adrenal gland which can be
difficult to diagnose in the early stages, namely:
a history of postpartum haemorrhage or head injury
chronic adrenal insufficiency (Addison disease)—deficiency of cortisol and aldosterone
symptoms of hypothyroidism
Cushing syndrome—cortisol excess
symptoms of adrenal insufficiency
primary hyperaldosteronism (refer to CHAPTER 77 )
symptoms suggestive of a pituitary tumour

thin, wrinkled skin: ‘monkey face’ Addison disease8,13

pale ‘alabaster’ skin/hairlessness Autoimmune destruction of the adrenals is the most common cause; others are infection, e.g. TB
or fungal.
Causes: pituitary adenoma, other parasellar tumours and inflammatory/infiltrative lesions.
Clinical features
DxT (female): amenorrhoea + loss of axillary and pubic hair + breast Lethargy/excessive fatigue/weakness
atrophy → hypopituitarism
Anorexia and nausea
DxT (male): ↓ libido + impotence + loss of body hair → hypopituitarism
Diarrhoea/abdominal pain

Weight loss
Investigate with serum pituitary hormones, imaging (MRI) and triple stimulation test.
Dizziness/funny turns, syncope: hypoglycaemia (rare); postural hypotension (common)
Treatment includes HRT, surgery or radiotherapy.
Hyperpigmentation, especially mucous membranes of mouth and hard palate, skin creases of
hands
If Addison disease remains undiagnosed, wasting leading to death may occur. Severe iatrogenic—chronic corticosteroid administration
dehydration can be a feature. Delayed diagnosis is a huge problem. Hypertension and heart
failure requires careful monitoring. pituitary ACTH excess (Cushing disease)

Page 144 bilateral adrenal hyperplasia

DxT fatigue + a/n/v + abdominal pain (± skin discolouration) → Addison
disease adrenal tumour (adenoma, adenocarcinoma)

ectopic ACTH or (rarely) corticotrophin-releasing hormone (CRH) from non-endocrine

tumours (e.g. oat cell carcinoma of lung)
Diagnosis
The clinical features are caused by the effects of excess cortisol and/or adrenal androgens.
Elevated serum potassium, low serum sodium
Clinical features
Low plasma cortisol level (fails to respond to synthetic adrenocorticotropic hormone [ACTH])
Proximal muscle wasting and weakness
The short synacthen stimulation test is the definitive test
Central obesity, buffalo hump on neck
Consider adrenal autoantibodies and imaging? calcification of adrenals
Cushing facies: plethora, moon face, acne
Treatment: corticosteroid replacement—hydrocortisone/fludrocortisone acetate, other options.
Weakness
Addisonian crisis8,13
Hirsutism
An Addisonian crisis develops because of an inability to increase cortisol in response to stress,
which may include intercurrent infection, surgery or trauma. Abdominal striae

Clinical features Thin skin, easy bruising

Nausea and vomiting Hypertension

Acute abdominal pain Hyperglycaemia (30%)

Severe hypotension progressing to shock Menstrual changes (e.g. amenorrhoea)

Weakness, drowsiness progressing to coma Osteoporosis

Psychiatric changes, especially depression

Urgent management13
Backache
Establish IV line with IV fluids
DxT plethoric moon face + thin extremities + muscle weakness → Cushing
Hydrocortisone sodium succinate 100 mg IV initially and 50–100 mg 4–6 hourly until stable syndrome
Arrange urgent hospital admission
Diagnosis (apart from iatrogenic cause)
Cushing syndrome8
Cortisol excess (plasma or 24-hour urinary cortisol)
The five main causes are:
 Dexamethasone suppression test Phaeochromocytoma8,12
Late night salivary cortisol (2 measurements)
A dangerous tumour of the adrenal medulla. Clinical features are paroxysms or spells of:
Inferior petrosal sinus sampling anxiety
Serum ACTH hypertension
Radiological localisation: MRI for ACTH-producing pituitary tumours; CT scanning for headache (throbbing); tremor
adrenal tumours
sweating
Management
palpitations
Ideally transsphenoidal excision of pituitary tumour. Pharmacological blockade of corticosteroid
production may be necessary, ketoconazole (o) is first line. pallor/skin blanching

rising sensation of tightness in upper chest and throat (angina can occur)
Primary hyperaldosteronism8
Most commonly due to an adrenal adenoma. DxT episodic headache + sweating + tachycardia → phaeochromocytoma

Conn syndrome
Investigations
Usually asymptomatic and hypertensive but any symptoms are features of hypokalaemia:
Series of three 24-hour free catecholamines ↑ VMA
weakness, headaches
Abdominal CT or MRI scan (both highly sensitive)
palpitations

cramps Treatment

paraesthesia Excise tumour, cover with alpha and beta blockers

polyuria and polydipsia Congenital adrenal hyperplasia (adrenogenital

Investigations
syndrome)6,8
An AR condition with 21-hydroxylase deficiency being the most common of several forms.
Aldosterone (serum and urine) ↑
There is inadequate synthesis of cortisol and aldosterone with increased androgenisation. Major
Plasma renin ↓ problem is adrenal failure ± salt-losing state (SLS). In females, ambiguity of external genitalia
and hirsutism before puberty usually occurs. Males may have normal urogenital development but
Plasma aldosterone to renin activity ratio SLS is a concern. Infants of either sex may present with failure to thrive or vomiting and
dehydration (SLS). Lifelong glucocorticoid treatment (e.g. prednisolone) is required. Wearing an
Na ↑, K ↓, alkalosis alert bracelet or necklace is strongly recommended for these patients (www.medicalert.org.au).6

Imaging (MRI or CT scan) of adrenals

Adrenal tumours9
Refer for treatment including possible surgery to excise adenoma. Spironolactone to prepare for
surgery. Most of those detected by abdominal imaging are benign and termed ‘incidentalomas’ but
serious tumours include adrenal carcinoma, phaeochromocytoma, neuroblastoma, glucocorticoid
or a mineralocorticoid secreting tumour.
Rule: tumours >4 cm require thorough assessment as malignant tumours are large.
Excision is usually advisable.
Incidentalomas
These are adrenal tumours ≥1 cm. Most are benign and non-functioning. An important issue is
malignancy, and if this is the case, whether it is primary, secondary or functional (hormone
secreting).
Investigations to consider include electrolytes, aldosterone/renin ratio, catecholamines,
testosterone, DHEAs, dexamethasone suppression test, CT scan. Surgical excision should be
considered under specialist guidance.
Calcium disorders
Page 145
Hypercalcaemia 12,14
Suspect hypercalcaemia if there is weakness, tiredness, malaise, anorexia, nausea or vomiting,
abdominal pain, loin pain, constipation, thirst, fever, polyuria, drowsiness, dizziness, personality
changes, muscle aches and pains, visual disturbances. Measure urea and electrolytes (especially
calcium), creatinine, albumin.
Primary hyperparathyroidism, familial hypercalciuric hypercalcaemia and neoplasia, especially
carcinoma of lung and breast (with metastases to bone), account for over 90% of cases. Other
causes include Paget disease, Williams syndrome, prolonged immobilisation, dehydration,
sarcoidosis and milk-alkali syndrome. Investigations include ESR, serum parathyroid hormone
(N: 1.0–7 pmol/L), serum ACE levels, serum alkaline phosphatase, chest X-ray, Sestamibi scan
and bone scan. Requires specialist referral.
DxT weakness + constipation + polyuria → hypercalcaemia
DxT cramps + confusion + tetany → hypocalcaemia
Primary hyperparathyroidism 12
Hyperparathyroidism is caused by an excessive secretion of parathyroid hormone and is usually
due to a parathyroid adenoma. The classic clinical features of hyperparathyroidism are due to the
effects of hypercalcaemia. Rarely, a parathyroid crisis in a misdiagnosed patient may result in
death from severe hypercalcaemia.
Classic mnemonic: bones, moans, stones, abdominal groans
Diagnosis
Exclusion of other causes of hypercalcaemia
Serum parathyroid hormone (elevated)
TC-99m Sestamibi scan to detect tumour
Treatment
Refer for possible surgical management.
Hypocalcaemia8,14
Causes include parathyroid injury, autoimmune hyperparathyroidism, severe vitamin D
deficiency and neonates of mothers with hypercalcaemia. This usually presents with tetany or
more generalised neuromuscular hyperexcitability and neuropsychiatric manifestations. The
sensory equivalents are paraesthesia in the hands, feet and around the mouth (distinguish from
tetany seen in the respiratory alkalosis of hyperventilation). There may be seizures and cramps.
The diagnosis is by measurement of serum total calcium concentration in relation to serum
albumin (s. calcium <2.10 mmol/L).
Two important signs are:
Trousseau sign: occlusion of the brachial artery with BP cuff precipitates carpopedal spasm
(wrist flexion and fingers drawn together)
Chvostek sign: tapping over parotid (facial nerve) causes twitching in facial muscles
Treatment involves careful adjustments in dosage of calcitriol and calcium to correct
hypocalcaemia and avoid hypercalcaemia and hypercalciuria (the latter may lead to kidney
impairment).
Hypoparathyroidism
Hypoparathyroidism is the most common cause of hypocalcaemia. Causes include postoperative
thyroidectomy and parathyroidectomy, congenital deficiency (DiGeorge syndrome) and
idiopathic (autoimmune) hypoparathyroidism. The main features are neuromuscular
hyperexcitability, tetany and neuropsychiatric manifestations.
Other electrolyte disturbances Hyperkalaemia K+ >5.5 mmol/L
The first sign of hyperkalaemia (e.g. >6) may be a cardiac arrest. A medical emergency if >6.5.
Hypernatraemia Na >145 mmol/L +

Causes
Causes
Oliguria, kidney failure
Water depletion (e.g. diabetes insipidus)
Acidosis (especially metabolic)
Water and sodium depletion (e.g. diarrhoea)
Mineralocorticoid deficiency: Addison disease, aldosterone antagonists
Corticosteroid excess (e.g. Cushing syndrome, Conn syndrome)
Excessive intake of K+ (e.g. IV fluids with K)
Iatrogenic: excess IV hypertonic Na solutions
Drugs (e.g. spironolactone, ACE inhibitors, NSAIDs, suxamethonium)
Clinical features
Consider artefact, e.g. haemolysed sample
Thirst, confusion, lethargy, weakness, irritability, oliguria
Clinical features
Orthostatic hypotension
Malaise, muscle weakness, flaccid paralysis (rare)
Muscle twitching or cramps
May be asymptomatic until cardiac toxicity
Signs of dehydration
May cause cardiac arrest—asystole or fibrillation
Severe: seizures, delirium, hyperthermia, coma
ECG: peaked T waves, ↓ QT, ↑ PR interval → arrhythmias
Hyponatraemia Na+ <135 mmol/L
Hypokalaemia K+ <3.5 mmol/L
Page 146
Causes If <2.5 severe symptoms, seek urgent attention.

Water retention (e.g. CCF, hypoalbuminaemia) Causes

Kidney failure to conserve salt (e.g. nephritis, diabetes mellitus, Addison disease) Kidney disease

Gastrointestinal loss of Na+ (e.g. vomiting, diarrhoea) Gastrointestinal loss: vomiting, diarrhoea

Drugs (e.g. diuretic excess, ACE inhibitors) Alkalosis

Clinical features Mineralocorticoid excess

Asymptomatic when mild Loss of extracellular fluid to intracellular (e.g. burns, other trauma, pyloric stenosis)

Anorexia, nausea, lethargy, confusion, headache, ataxia, mental changes (e.g. in personality) Drugs (e.g. diuretics: frusemide, thiazides), purgatives, liquorice abuse

Severe: convulsions, coma, death Reduced intake of K+

Clinical features Endocrinologists. Thyroid, 2011; 21(6): 593–646.

Lethargy, muscle weakness and cramps, mental lethargy and confusion 10 Walsh JP. Managing thyroid disease in general practice. Med J Aust, 2016; 205(4): 179–
84.
Severe flaccid paralysis, tetany, coma
11 Donadio F et al. Patients with macroprolactinaemia: clinical and radiological features. Eur
ECG: prominent U waves, depressed ST segment, T waves, arrhythmias J Clin Invest, 2007; 37(7): 552–7.

12 Phillips P, Torpy D. Endocrinology ‘pot pourri’. Check Program. Melbourne: RACGP,

Patient education resources 2001: 347–8.

Hand-out sheets from Murtagh’s Patient Education 8th edition: 13 Debono M, Ross RJ. What is the best approach to tailoring hydrocortisone dose to meet
patient needs in 2012? Clin Endcrinol (Oxf), 2013; 78(5): 659–64.
Hyperthyroidism
14 The Royal College of Pathologists of Australasia. Calcium: plasma or serum. Sydney,
Hypothyroidism 2015.

Goitre (thyroid swelling)

References
1 Fry J. Common Diseases (4th edn). Lancaster: MTP Press Limited, 1985: 358–61.

2 Managing thyroid conditions in primary care. NPS MedicineWise. Surrey Hills, 26 Sept
2019: 1–6. Available from: https://www.nps.org.au/professionals/thyroid-testing-imaging-
and-medicines.

3 Stockigt J. Thyroid disorders: how to treat. Australian Doctor, 4 February 2005: 21–27.

4 Topliss DJ, Eastman CJ. Diagnosis and management of hyperthyroidism and

hypothyroidism. Med J Aust 2004; 180(4): 186–93.

5 Stockigt J, Topliss DJ. Hypothyroidism. In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 267–9.

6 Klaas J et al. Guidelines for the treatment of hypothyroidism: American Thyroid

Association Task Force on Thyroid Hormone Replacement. Thyroid, December 2014;
24(12): 1670–5. [PMID: 25206247]

7 Stockigt J, Topliss DJ. Hypothyroidism: current drug therapy. Drugs, 1989; 37(3): 37–51,
186–93.

8 Therapeutic Guidelines [digital]. Melbourne: Therapeutic Guidelines Limited; 2019.

www.tg.org.au, accessed March 2020.

9 Bahn RS et al. Hyperthyroidism and other causes of thyrotoxicosis: management

guidelines of the American thyroid association and American Association of Clinical
 Page 147 neck pain

neck stiffness

headache
15 Spinal dysfunction ‘migraine’-like headache

facial pain

arm pain (referred or radicular)

The spine is an ordered series of bones running down your back. You sit on one end of it, myelopathy (sensory and motor changes in arms and legs)
sometimes too hard with ill effect, and your head sits on the other. Poor spine—what a load.
ipsilateral sensory changes of scalp
ANON, 19TH CENTURY ear pain (peri-auricular)
Spinal or vertebral dysfunction can be regarded as a masquerade mainly because the importance scapular pain
of the spine as a source of various pain syndromes has not been emphasised in medical training.
Practitioners whose training and treatment are focused almost totally on the spine may swing to anterior chest pain
the other extreme and some may attribute almost every clinical syndrome to dysfunction of
spinal segments. The true picture lies somewhere in between. torticollis

The diagnosis is straightforward when the patient is able to give a history of a precipitating event dizziness/vertigo
such as lifting, twisting the neck or having a motor vehicle accident, and can then localise the
pain to the midline of the neck or back. The diagnostic problem arises when the pain is located visual dysfunction
distally to its source, whether it is radicular (due to pressure on a nerve root) or referred pain.
The problem applies particularly to pain in anterior structures of the body. FIGURE 15.1 indicates typical directions of referred pain from the cervical spine. Pain in the
arm (brachialgia) is common and tends to cover the shoulder and upper arm as indicated.
If a patient has pain anywhere, it is possible that it could be spondylogenic and practitioners
should always keep this in mind.

The various syndromes caused by spinal dysfunction will be presented in more detail under neck
pain, thoracic back pain and lumbar back pain.

Cervical spinal dysfunction1

The cervical spine is the origin of many confusing clinical problems and syndromes.

Clinical problems of cervical spinal origin

Pain originating from disorders of the cervical spine is usually, although not always, experienced
in the neck. The patient may experience headache or pain around the ear, face, arm, shoulder,
upper anterior or posterior chest.2

Possible symptoms:
 from quadriplegia are those with rheumatoid arthritis of the neck and Down syndrome, because
of the instability of the odontoid process.

However, good results can be achieved by gentler techniques, such as mobilisation and muscle
energy therapy (refer to CHAPTER 51 ).

Thoracic spinal dysfunction

The most common and difficult masquerades related to spinal dysfunction occur with disorders
of the thoracic spine (and also the low cervical spine), which can cause vague aches and pains in
the chest, including the anterior chest. This applies particularly to unilateral pain.

Pain in the thoracic spine with referral to various parts of the chest wall and upper abdomen is
common in all ages and can closely mimic the symptoms of visceral disease, such as angina
pectoris and biliary colic (see TABLE 15.1 ). If a non-cardiac cause of chest pain is excluded,
then the possibility of referral from the thoracic spine should be considered in the differential
diagnosis.3 People of all ages can experience thoracic problems and it is surprisingly common in
young people, including children.

Table 15.1 Conditions mimicked by thoracic spinal

dysfunction (usually unilateral pain)

Cardiovascular
Acute coronary syndromes
Angina
Pericarditis
Dissecting aneurysm
Chest/respiratory
FIGURE 15.1 Possible directions of referred pain from the cervical spine
Pleurisy
If the cervical spine is overlooked as a source of pain (such as in the head, shoulder, arm, upper Pneumothorax
chest—anterior and posterior—and around the ear or face) the cause of the symptoms will Carcinoma lung, esp. mesothelioma
remain masked and mismanagement will follow. Pulmonary infarction
Dysfunction of the cervical spine can cause many unusual symptoms such as headache Page 148 Tuberculosis
and vertigo, a fact that is often not recognised. Despite teaching to the contrary from Fractured rib, esp. cough fracture
some, the cervical spine is a common cause of headache, especially dysfunction of the facet
Renal
joints at the C1–2 and C2–3 levels. The afferent pathways from these levels share a common
pathway in the brain stem as the trigeminal nerve, hence the tendency for pain to be referred to Renal colic
the head and the face (see CHAPTER 41 ). Urinary infection/pyelonephritis

Manipulation of the cervical spine can be a dramatically effective technique, but it should be Gastrointestinal
used with care and never used in the presence of organic disease and vertebrobasilar Biliary colic
insufficiency. It should, therefore, be given only by skilled therapists. Two groups at special risk Appendicitis
 Diverticulitis FIGURE 15.2 Examples of referral patterns for the thoracic spine
Others
Herpes zoster Thoracic pain of lower cervical origin4
Epidemic pleurodynia (Bornholm disease)
The clinical association between injury to the lower cervical region and upper thoracic pain is
Precordial catch (stitch in side) well known, especially with ‘whiplash’ injuries. It should be noted that the C4 dermatome is in
Costochondritis close proximity to the T2 dermatome.
Hernia (symptomatic)
The T2 dermatome appears to represent the cutaneous areas of the lower cervical segments, as
Muscular tears
the posterior primary rami of C5, C6, C7, C8 and T1 innervate musculature and have no
significant cutaneous innervation.

Pain of thoracic spinal origin may be referred anywhere to the chest wall, but the commonest The pain from the lower cervical spine can also refer pain to the anterior chest, and mimic
sites are the scapular region, the paravertebral region 2–5 cm from midline and, anteriorly, over coronary ischaemic pain. The associated autonomic nervous system disturbance can cause
the costochondral region (see FIG. 15.2 ). considerable confusion in making the diagnosis.

The medical profession tends to have a blind spot about various pain syndromes in the chest,
especially the anterior chest and upper abdomen, caused by the common problem of dysfunction
of the thoracic spine. Doctors who gain this insight are amazed at how often they diagnose the
cause that previously did not enter their ‘programmed’ medical minds.

Physical therapy to the spine can be very effective when used appropriately. Unfortunately,
many of us associate it with quackery. It is devastating for patients to create doubts in their
minds about having a ‘heart problem’ or an ‘anxiety neurosis’ when the problem is spinal and it
can be remedied simply (see CHAPTER 28 ).

Lumbar-sacral spinal dysfunction

The association between lumbar dysfunction and pain syndromes is generally easier to Page 149
correlate. The pain is usually located in the low back and referred to the buttocks or the backs of
the lower limbs. Pain manifestations of radiculopathy (sciatica) may follow dermatome patterns
(see FIG. 55.1 in CHAPTER 55 ). Problems arise with referred pain to the pelvic area, groin
and anterior aspects of the leg. Such patients may be diagnosed as suffering from inguinal or
obturator hernial and nerve entrapment syndromes.

Typical examples of referral and radicular pain patterns from various segments of the spine are
presented in FIGURE 15.3 .
 Backache

Exercises for your lower back

Exercises for your neck

Exercises for your thoracic spine

Neck: painful neck

Sciatica

References
1 Murtagh J. Cautionary Tales (2nd edn). Sydney: McGraw-Hill, 2011: 193–5.

2 Sloane PD, Slatt LM, Baker RM. Essentials of Family Medicine. Baltimore: Williams &
Wilkins, 1988: 236–40.

3 Murtagh J. Cautionary Tales (2nd edn). Sydney: McGraw-Hill, 2011: 49–51.

4 Kenna C, Murtagh J. Back Pain and Spinal Manipulation (2nd edn). Oxford: Butterworth
Heinemann, 1997: 213–18.

5 Qaseem A et al. Noninvasive treatments for acute, subacute and chronic low back pain: a
clinical practice guideline from the American College of Physicians. Clinical Guidelines, 4
April 2017: 514–30.

FIGURE 15.3 Examples of referred and radicular pain patterns from the spine
(one side shown for each segment)

Management of lumbar spinal dysfunction5

This is best managed conservatively under medical supervision with collaboration between the
general practitioner and skilled physiotherapist. The patient should continue their normal
activities even if uncomfortable, avoid painful aggravating activities and take basic analgesics,
such as paracetamol and ibuprofen. Evidence supports the value of prescribed exercises and
physical interventions such as traction and spinal mobilisation or manipulation for persistent pain
(refer to CHAPTERS 27 and 28 ).

Patient education resources

Hand-out sheets from Murtagh’s Patient Education 8th edition:
 Page 150 failure to thrive

vomiting

abdominal pain
16 Urinary tract infection diarrhoea

In the elderly:

confusion

Experience has taught them, as mine has me, that one must listen to reason and agree with behaviour disturbance
Hippocrates, Galen, Avicenna and many others, ancient and modern, that there is no surer way
to determine the temperaments and constitutions of people of either sex than to look at the urine. fever of undetermined origin

DAVACH DE LA RIVIÈRE (18TH CENTURY), THE MIRROR OF URINES

Urinary tract infection (UTI) is a common problem affecting all ages and accounts for
Key facts and checkpoints
approximately 1% of all attendances in general practice. It is very common in sexually active
As always, a thorough examination of the patient presenting with urinary
women but uncommon in men and children.
symptoms and their history is important.
Organisms causing UTI in the community are usually sensitive to most of the commonly used
Screening of asymptomatic women has shown that about 5% have bacterial
antibiotics. The most common pathogens are the bacteria Escherichia coli (E. coli),
Staphylococcus saprophyticus, Proteus, Klebsiella and Enterococcus spp. Of great concern is the UTI.1
worldwide emergence of multidrug-resistant strains of E. coli. The important decision to make is
whether to proceed with further investigation of the urinary tract. The morbidity of urinary About 1% of neonates and 1–2% of schoolgirls have asymptomatic bacteriuria.2
infections in both children and adults is well known but it is vital to recognise the potential for
About one-third of women have been estimated to have symptoms suggestive of
progressive kidney damage, ending in chronic kidney failure. The main task in the prevention of
cystitis at some stage of their life.
chronic pyelonephritis is the early identification of patients with additional factors, such as reflux
or obstruction, which could lead to progressive kidney damage. The vast majority of these women have anatomically normal kidney tracts, are at
no significant risk from the UTI and respond quickly to simple therapy. The
UTI as a masquerade prevalence of underlying abnormalities is estimated at around 4%.3

UTI can be regarded as a masquerade when it presents with a constitutional problem or general
symptoms, without symptoms suggestive of a urinary infection such as frequency, dysuria and
loin pain. This applies particularly to infants and young children and the elderly but is not
uncommon in adult women and in pregnancy. Acute UTI may occasionally present as acute
abdominal pain. The causes of dysuria are outlined in the diagnostic strategy in CHAPTER 65 .
In infants and children, presenting non-specific symptoms include:
fever
lethargy and irritability
poor feeding
UTIs are largely caused by organisms from the bowel that colonise the perineum
and reach the bladder via the urethra. In many young women, infections are
precipitated by sexual intercourse. Ascending infection accounts for 93% of UTIs.
Haematogenous infection can occur sometimes, especially with the
immunocompromised patient.
Children with severe or recurrent UTIs require investigation for an underlying
abnormality of the urinary tract.
In the presence of a normal urinary tract there is no evidence that UTI leads to
progressive kidney damage.
 Always consider any family history of urinary tract abnormalities. sterile pyuria are:

Infants less than 6 months old with a UTI have a significant risk of bacteraemia. contamination of poorly collected urine specimens

Consider the NSAID tiaprofenic acid as a cause of non-infective cystitis. urinary infections being treated by antibiotics, i.e. inadequately treated infections

Cloudy or malodorous urine does not usually require investigation or treatment genital infections (e.g. chlamydia urethritis)
unless the person has other signs of a UTI.2
analgesic nephropathy
Care should be exercised in deciding the need for dipstick urinalysis and
microscopy, culture and sensitivity (MCU) tests in elderly patients including staghorn calculi
residential aged care facilities to ensure appropriate diagnosis and avoidance of
other kidney disorders (e.g. polycystic kidney)
unnecessary antibiotic use.2
bladder tumours
Page 151
Risk factors tuberculosis

Female sex chemical cystitis (e.g. cytotoxic therapy)

Sexual intercourse appendicitis

Diabetes mellitus Asymptomatic bacteriuria4

Vesicoureteral reflux (VUR) This is defined as the presence of a significant growth of bacteria in the urine (concentration
>108 colony forming units/L), which has not produced symptoms requiring consultation.1
Urinary tract obstruction/malformation/stricture
Screening for and treatment of asymptomatic bacteriuria is not recommended except for:
Pregnancy
pregnant women because of the risk of pyelonephritis and pregnancy complications (see
Immunosuppression CHAPTER 100 )
Menopause patients before elective urological procedures (e.g. TURP)
Diaphragm contraception or spermicidal exposure
Symptomatic bacteriuria
Instrumentation
This is defined as the presence of frequency, dysuria and loin pain alone or in combination,
Bladder polyps, carcinoma, diverticula, stones together with a significant growth of organisms on urine culture.2
Diverticulitis with colo-vesical fistula (?pneumaturia) The clinical differentiation between cystitis or lower UTI and kidney or upper UTI cannot be
made accurately on the basis of symptoms, except in those patients with well-defined loin pain
Classification and clinical syndromes and/or tenderness.

Acute cystitis (dysuria-frequency syndrome)1

Sterile pyuria
Inflammation of the bladder and/or urethra is associated with dysuria (pain or scalding with
This is defined as the presence of pus cells but a sterile urine culture.2 The common causes of micturition) and/or urinary frequency.
 In severe cases, haematuria may be present, and the urine may have an offensive smell.

Constitutional symptoms are minimal or absent.

Other causes of dysuria and frequency include urethritis, prostatitis and vulvovaginitis, all of
which can normally be distinguished clinically.

Acute pyelonephritis1
Acute bacterial infection of the kidney produces loin pain and constitutional upset, with fever,
rigors, nausea and sometimes vomiting.

The symptoms of acute cystitis are often also present.

The differential diagnosis includes causes of the acute abdomen, such as appendicitis,
cholecystitis and acute tubal or ovarian diseases. The presence of pyuria and absence of
rebound tenderness are helpful in distinction.

The clinical manifestations of UTI are summarised in FIGURE 16.1 .

FIGURE 16.1 Clinical manifestations of urinary tract infection

Uncomplicated urinary tract infection

This is cystitis occurring in the uninstrumented non-pregnant female without structural or
neurological abnormalities. Acute infection is most commonly caused by E. coli and
Staphylococcus saprophyticus.

Complicated urinary tract infection5

This is associated with anatomical or functional abnormalities (e.g. diabetes, urinary Page 152
calculi) that increase the risk of serious complications or treatment failure. least 20 mL.

Urethral syndrome
The urethral syndrome (sometimes termed abacterial cystitis) is where the patient presents with
dysuria and frequency and even abdominal pain but does not show a positive urine culture.3
30–40% of adult women with urinary symptoms have this syndrome.3
Many actually have bacterial cystitis but a negative culture.
The organisms may be anaerobic or fastidious in their culture requirements.
The organisms may include Ureaplasma, Mycoplasma genitalium, Chlamydia and viruses.
The urine may have antiseptic contamination or residual antibiotic.
The infection may be undergoing spontaneous resolution at the time of the culture.
In women, consider cleaning the genital area first (preferably with a sterile wipe). Sit on the
toilet and swing one knee to the side as far as possible. The labia are then held apart with
the fingers of one hand to prevent contact with the urinary stream while the specimen is
collected after passing a small amount of urine into the toilet.
In males, the foreskin (if present) is retracted and the glans washed with clean water.
In children, a midstream clean catch (MCC) is useful (although prone to contamination)
especially in the hands of experienced collectors. The parent holds the child over a sterile
bowl placed under cleansed genitalia.
In infants, the three-person French technique is useful. This is where the child is held in a
‘frog leg’ position or with arms and legs dangling. Another person holds a sterile urine
container to catch the urine. A trained person stimulates the bladder by tapping over it at
100 light taps per minute for 30 seconds then massages the paravertebral area for up to 3
minutes or until voiding.

Interstitial cystitis3
Page 153
This is an uncommon but important cause of the urethral syndrome.
The classic symptoms are frequency day and night and a dull suprapubic ache relieved briefly
by bladder emptying.
The feature is small haemorrhages on distension of the bladder.
Treatment is hydrodistension ± a course of tricyclics, for example amitriptyline.
Catheter specimen of urine (CSU). In women who have difficulty with collecting an
uncontaminated MSU (as is commonly the case in the elderly, the infirm and the grossly
obese), a short open-ended catheter can be inserted and a specimen collected after 200 mL has
flushed the catheter.
Suprapubic aspirate of urine (SPA). This is an extremely reliable way to detect bacteriuria in
neonates and in patients where UTI is suspected but cannot be confirmed because of low
colony counts or contamination in an MSU. Under topical anaesthesia, a needle (lumbar
puncture needle in adults) is inserted into the very full bladder about 1–2 cm above the pubic
symphysis, and 20 mL is collected by a syringe. Any organisms in an SPA specimen indicate
UTI (see FIG. 16.2 ).

Laboratory diagnosis
The laboratory diagnosis of UTI depends on careful collection, examination and culture of urine.
This is recommended for the people listed in TABLE 16.1 . It is not mandatory for non-pregnant
women with suspected cystitis when empirical treatment may be appropriate.

Collection of urine1
It is best to collect the first urine passed in the morning, when it is highly concentrated and any
bacteria have been incubated in the bladder overnight. Preferably the urine should be taken to the
laboratory immediately, but it can be stored for up to 24 hours at 4°C to prevent bacterial
multiplication.

Clean catch midstream specimen of urine (MSU). This is best collected from a full bladder, to
allow at least 100 mL of urine to be passed before collection of the MSU. It is important that
the urine flow is continuous, and the container is moved in and out of the stream collecting at
 Microscopic examination
The urine is examined under a microscope to detect pyuria (more than 10 pus cells—WBCs—per
high-powered field) but should be examined in a counting chamber to calculate the number of
WBCs/mL of urine. In the counting chamber pyuria is >8000 WBC/mL in phase-contrast
microscopy. Pyuria is a very sensitive sign of UTI.

Vaginal squames and debris indicate contamination.

Culture of the urine

The nature and number of organisms present in the urine are the most useful indicators of UTI.1

Most common are enteric organisms. E. coli (especially) and Staphylococcus saprophyticus
are responsible for over 90% of UTIs, with other Gram-negative organisms (Klebsiella sp. and
Proteus sp.), Enterococcus sp. and Gram-positive cocci (Streptococcus faecalis and other
staphylococci) also responsible.

Infections due to organisms other than E. coli (e.g. Pseudomonas sp.) are suggestive of an
FIGURE 16.2 Suprapubic aspiration of urine in a child underlying kidney tract abnormality.

If >105 colony forming units (cfu) per mL of bacteria are present in an MSU, it is highly likely
Urine specimen collection in children that the patient has a UTI.
All children with a UTI require a urine specimen. It is diagnosed by significant growth on MSU, On the other hand, it is most important to realise that up to 30% of women with acute bacterial
CSU, MCC or SPA. cystitis have less than 105 cfu/mL in the MSU. For this reason, it is reasonable to treat women
Bag specimen: cannot diagnose UTI with dysuria and frequency even if they have <105 cfu/mL of organisms in an MSU.

MSU—usually by 3–4 years when cooperative

Summary: MCU (microscopy and culture urine)
MCC—practical and reliable
Significant levels for UTI:
SPA—reliable and the best option
Microscopy: WBC >10 per mL (10 × 106/L)
CSU—for failed SPA or those unable to void on request
Culture: counts >105 cfu/mL (108/L)
Dipstick testing
Dipstick findings of urinary leucocytes or nitrite are suggestive of UTI and may be an Page 154
indication for empirical treatment if symptomatic. The reagents in dipstick testing are generally Other investigations
sensitive but have to be interpreted with care. Leucocyte esterase dipsticks are useful in detecting
FBE, ESR/CRP, blood culture (if febrile and unwell), consider U&E, PSA (men)
pyuria and give a good guide to infection with a specificity of 94–98% (2–6% false positive) and
74–96% sensitivity (4–26% false negatives).6 Positive nitrite dipsticks give a useful guide to the
presence of bacteria. Unexplained haematuria detected by dipstick analysis needs investigation. Acute uncomplicated cystitis
Advice to women (especially if recurrent attacks):
 Keep yourself rested.
Basic investigations include:
Drink a lot of fluid: 2–3 cups of water at first and then 1 cup every 30 minutes. MCU—microscopy and culture
Try to empty your bladder completely each time. Kidney function tests: plasma urea and creatinine, eGFR
Intravenous urogram (IVU) and/or ultrasound
Use analgesics such as paracetamol for pain.
Special considerations:
Make the urine alkaline by taking sodium citrotartrate (4 g orally 6 hourly)—not if taking In children: micturating cystourethrogram (MCUG), nuclear scans (DMSA, MAG3)
nitrofurantoin.
In adult males: consider prostatic infection studies if IVU normal
In severe pyelonephritis: ultrasound or IVU (urgent) to exclude obstruction
UTI: basic management In pregnant women: ultrasound to exclude obstruction

Urine dipstick

Urine microscopy and culture Treatment (non-pregnant women)3,7

First-line antibiotics—trimethoprim or cephalexin Use for 10 days in women with known urinary tract abnormality:

Alkaliniser for severe dysuria trimethoprim 300 mg (o) daily for 3 days (first choice)

High fluid intake or

Check sensitivity—leave or change ABs cephalexin 500 mg (o) 12 hourly for 5 days

Consider further investigation (see TABLE 16.1 ) or

amoxicillin + clavulanate 500/125 mg (o) 12 hourly for 5 days

or
Table 16.1 Investigation of symptomatic urinary tract infections
nitrofurantoin 100 mg (o) 6 hourly for 5 days
Investigations are indicated in: or
All children
norfloxacin 400 mg (o) 12 hourly for 3 days (if resistance to above agents proven and if
All males susceptible, Caution about tendinopathy and tendon rupture.)
All women with:
No follow-up is required if women remain asymptomatic after treatment.
acute pyelonephritis
recurrent infections: >2 per year Note:
confirmed sterile pyuria
Avoid using important quinolones—norfloxacin or ciprofloxacin—as first-line agents.
other features of kidney disease, e.g. haematuria
pregnancy Cotrimoxazole is not first line because it has no advantage over trimethoprim and has more
Others: side effects.
with failed antibiotic treatment Treatment failures are usually due to a resistant organism or an underlying Page 155
with recent international travel
 abnormality of the urinary tract. prostatitis, obstruction.

Pregnant women8,9 Acute pyelonephritis10

UTI in pregnant women requires careful surveillance. Asymptomatic bacteriuria should always Urine microscopy and culture is mandatory. Mild cases can be treated with oral therapy alone for
be excluded during early pregnancy because it tends to be blown into a full infection. Treat a longer duration than the recommended course for uncomplicated cystitis. For empirical
asymptomatic bacteriuria in pregnancy as for acute cystitis. therapy, use amoxicillin/clavulanate (875/125 mg (o) 12 hourly) for 10–14 days or ciprofloxacin
(500 mg (o) 12 hourly) for 7 days. Modify empirical therapy based on culture and susceptibility
Treatment of acute cystitis (empirical): results.
cephalexin 500 mg (o) 12 hourly for 5 days For severe infection with suspected septicaemia, admit to hospital and treat initially with
parenteral antibiotics after taking urine for microscopy and culture, and blood for culture. It is a
or
particular problem if acquired in pregnancy.
nitrofurantoin 100 mg (o) 6 hourly for 5 days
amoxicillin/ampicillin 2g IV 6 hourly
or
plus
amoxicillin + clavulanate 500/125 mg (o) 12 hourly for 5 days
gentamicin 4–6 mg/kg/day, single daily IV dose
Repeat MCU 1--2 weeks after completion.
Follow with oral therapy for a total of 14 days.
Adult males7 Drug levels of gentamicin require monitoring. Gentamicin can be replaced with IV cefotaxime or
ceftriaxone.
Consider the cause (see risk factors above).
Consider investigation for an underlying urinary tract abnormality, especially in men and in
Investigations: MCU, U&E, ultrasound. patients that remain unwell after 72 hours of treatment.
Treatment (empirical, while awaiting investigation):
Recurrent or chronic urinary tract infections11,12
trimethoprim 300 mg (o) daily for 7 days
Recurrent infections occur as a relapse of a previously treated infection or because of Page 156
or re-infection, often with differing organisms. Persistent (chronic) UTIs indicate that the organism
is resistant to the antimicrobial agents employed or that there is an underlying abnormality such
cephalexin 500 mg (o) 12 hourly for 7 days as a kidney stone or a chronically infected prostate in the male patient. MCU is mandatory. Such
infections may be treated with prolonged courses of an appropriate antibiotic or removal of the
or focus of infection.13
amoxicillin + clavulanate 500/125 mg (o) 12 hourly for 7 days In men and children, an anatomical abnormality is usual, while recurrent cystitis in women often
occurs despite a normal tract.
or

nitrofurantoin 100 mg (o) 6 hourly for 7 days Treatment14

or Treat an acute episode of recurrent UTI as for cystitis or pyelonephritis

norfloxacin 400mg (o) 12 hourly for 7 days Prevention including antibiotic prophylaxis14
Note: All males with a UTI should be investigated to exclude an underlying abnormality, e.g. In some female patients with recurrent UTI a single dose of a suitable agent within 2 hours after
intercourse is adequate but, in more severe cases, courses may be taken for 3–6 months or on if both negative, no further investigation
occasions longer. Adult doses given:
if abnormal, follow-up referral/investigation
trimethoprim 150 mg (o) nocte
>1 year—ultrasound
or
Nuclear scans including dimercaptosuccinic acid scintigraphy (DMSA) and
cephalexin 250 mg (o) nocte mercaptoacetyltriglycine (MAG3) are occasionally indicated.

Non-antibiotic strategies
Treatment (mild infection in children)15,17
Drinking more water is recommended. Women are generally encouraged to gently wash or wipe
their bottom from front to back after opening their bowels. Continuous prophylaxis with the Treat empirically in children one month or more while awaiting culture results. If less than one
bacteriostatic agent methenamine hippurate 1g (o) bd may also be helpful, although evidence is month, treatment with IV antibiotics is advisable.
inconsistent. In postmenopausal women with atrophic vaginitis, topical oestrogen therapy may
reduce the risk of recurrent UTIs. Cranberry products are no longer recommended. Treatment should be taken orally for 3–7 days:

Urinary tract infection in children trimethoprim 4 mg/kg (max. 150 mg) bd (suspension is 50 mg/5 mL)

or
By the age of 10 years, about 3% of boys15 and 10% of girls will have had at least one episode of
a urinary tract infection. cephalexin 12.5 mg/kg (max. 500 mg) bd

UTI in infants and very young children is often kidney in nature and may be associated with or
generalised symptoms such as fever, vomiting, diarrhoea and failure to thrive. Offensive urine
may be noted. Causes of ‘smelly’ urine in children are urinary infection and/or dehydration, trimethoprim/sulfamethoxazole 4/20 mg/kg (max. 160/800 mg) bd
especially with gastroenteritis. Symptoms of dysuria and frequency appear only after the age of 2
years when the child is able to indicate the source of the discomfort. In a girl or boy (rare Amoxicillin, amoxicillin/clavulanate, norfloxacin or ciprofloxacin may be required based on
presentation) with symptoms of dysuria and frequency, an underlying abnormality may be pathogen susceptibility.
present with a reported incidence of vesicoureteric reflux (VUR) as high as 40% and scarred
Repeat MCU is not required if children remain asymptomatic after treatment.
kidneys (reflux nephropathy) in 27%.3

Thus the early detection of children with VUR and control of recurrent kidney infection could Severe infections in children
prevent the development of scars, hypertension and chronic kidney failure. Radiological Page 157
investigation of children with UTIs shows normal kidneys in approximately 66% and reflux in For empirical treatment in those ≥12 months who appear septic or are vomiting, and
approximately 33%. infants <12 months, give gentamicin IV + amoxi/ampicillin IV. Subsequent treatment should be
guided by culture results and clinical results with early change to oral therapy.
Children require further investigation with an ultrasound if they are seriously unwell with a UTI,
have complicated or recurrent UTIs. Children with recurrent UTIs may require additional Duration of therapy: usually 10–14 days.
imaging and specialist input is recommended. A low threshold for further investigation is
appropriate in children <6 months. A urine specimen is essential before antibiotics are given. Vulvovaginitis in children
Although vulvovaginitis can affect women of any age, it is more prevalent in girls between 2 and
Guidelines for investigation15,16 8 years. It can be confused with a UTI where there is dysuria, which is a common symptom in
this type of dermatitis (see CHAPTER 99 ).
<1 year—ultrasound; consider micturating cystourethrogram (MCUG) if US
abnormal
Urinary infections in the elderly
 Refer children with recurrent UTI.
The typical settings in which UTIs occur in the elderly are in the frail, those who are
immobilised, and those with faecal incontinence and inadequate bladder emptying. It is a Refer males with urinary infections that are not clearly localised to the prostate.
particular problem in aged care facility residents. The presenting symptoms may be atypical,
especially with upper UTI where fever of undetermined origin and behaviour disturbances may Refer patients with impaired kidney function.
be a feature. In men, consider excluding obstructive uropathy from prostatism by ultrasound.

Uncomplicated infections should be treated the same way as for other age groups but no
Practice tips
antimicrobial treatment is recommended for asymptomatic bacteriuria.
Genitourinary tuberculosis
The genitourinary tract is involved in 3–5% of cases of tuberculosis.18 The genital and urinary
tracts are often involved together as a result of miliary spread.
The commonest presenting complaints are dysuria and frequency, which can be severe. Other
symptoms include strangury when the bladder is severely affected, loin pain and haematuria.
Routine urine culture shows sterile pyuria.
Diagnosis is made on specific urine culture for mycobacterium, ESR/CRP (high) or biopsy of
bladder lesions or the typical X-ray appearance of distorted calyces and medullary calcification.
Treatment is with antituberculous drugs.
Candiduria
The presence of Candida albicans in the urine is common. Antifungal therapy is not
recommended if associated with indwelling catheters but is recommended if associated with
upper UTIs and/or systemic candidiasis. Consider removal of catheter and stents.
Most symptomatic UTIs are acute cystitis occurring in sexually active women with
anatomically normal urinary tracts.
A clinical diagnosis based on experience, plus a positive nitrite dipstick test and
the finding of pyuria by office microscopy, will generally enable immediate curative
treatment.
A 3-day course of trimethoprim 300 mg daily is a suitable first choice for acute
uncomplicated cystitis in women.
Avoid overinvestigation of patients in whom there is a low likelihood of
demonstrating structural abnormalities.
The ultrasound examination may not detect calculi, small tumours, clubbed
calyces and papillary necrosis.
In males the prostate is the most common source of recurrent UTI.
UTI is commonly associated with microscopic haematuria (occasionally
macroscopic haematuria).

Use fluconazole 200 mg (o) daily for 14 days. Persisting haematuria should be investigated, e.g. US, CT-IVP.

Prostatitis
Patient education resources
Consider bacterial prostatitis in men with few urinary symptoms (frequency, urgency and
dysuria), flu-like illness, fever, low backache and perineal pain. The prostate is exquisitely tender
Hand-out sheets from Murtagh’s Patient Education 8th edition:
on rectal examination. For mild to moderate infection, give trimethoprim 300 mg (o) daily or
cephalexin 500 mg (o) 6 hourly for 2 weeks. If severe, use amoxi/ampicillin 2 g IV 6 hourly plus Cystitis in women
gentamicin (see CHAPTER 106 ).
Urine infection in children
When to refer Prostate: prostatitis

It is wise to refer all patients with urinary tract abnormalities to a nephrologist or urologist for Page 158
advice on specific management.
References
Refer also if the simple methods outlined above do not control recurrent UTI.
 Becker GJ. Urinary tract infection. In: MIMS Disease Index (2nd edn). Sydney: IMS 15 Turner P, Moran K. Urinary tract infections in children. Medical Observer, 29 February
1
Publishing, 1996: 545–7. 2008: 27–30.

2 NPS Medicine Wise 2017. Available from: 16 Thomson K et al. Paediatric Handbook (8th edn). Melbourne: Wiley-Blackwell, 2009:
https://www.nps.org.au/medical-info/consumer-info/urinary-tract-infections-utis, accessed 488–93.
February 2018.
17 Acute cystitis in children [published 2019 April]. In: Therapeutic Guidelines [digital].
3 Kincaid-Smith P, Larkins R, Whelan G. Problems in Clinical Medicine. Sydney: Melbourne: Therapeutic Guidelines Limited; 2019 April. https://www.tg.org.au, accessed
MacLennan & Petty, 1990: 280–3. January 2021.

4 Asymptomatic bacteriuria [published 2019 April]. In: Therapeutic Guidelines [digital]. 18 Bullock N, Sibley G, Whitaker R. Essential Urology. Edinburgh: Churchill Livingstone,
Melbourne: Therapeutic Guidelines Limited; 2019 April. https://www.tg.org.au, accessed 1989: 126–9.
January 2021.

5 Antibiotic choice for urinary tract infection in adults [published 2019 April]. In:
Therapeutic Guidelines [digital]. Melbourne: Therapeutic Guidelines Limited; 2019 April.
https://www.tg.org.au, accessed January 2021.

6 Devillé WLJM et al. The urine dipstick test useful to rule out infections. A meta-analysis
of the accuracy. BMC Urology, 2004; 4: 4.

7 Acute cystitis in adults [published 2019 April]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2019 April. https://www.tg.org.au, accessed
January 2021.

8 Urinary tract infection and bacteriuria in pregnancy [published 2019 April]. In:
Therapeutic Guidelines [digital]. Melbourne: Therapeutic Guidelines Limited; 2019 April.
https://www.tg.org.au, accessed January 2021.

9 Vazguez JC, Abatos E. Treatments for symptomatic urinary tract infections during
pregnancy. Cochrane Database Systematic Review, 2011; (1): CD002256.

10 Acute pyelonephritis in adults [published 2019 April]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2019 April. https://www.tg.org.au, accessed
January 2021.

11 Kerr PG, Blair S. How to investigate recurrent urinary tract infections. Medicine Today,
2008; 9(7): 53–61.

12 Epp A, Larochell A et al. Recurrent urinary infection. J Obst Gynaecol Can, 2010;
32(110): 1082–101.

13 Little P et al. Effectiveness of five different approaches in management of urinary tract

infection: randomised controlled trial. BMJ, 2010; 340: c199.

14 Treatment and prevention of recurrent urinary tract infections in adults [published 2019
April]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic Guidelines Limited;
2019 April. https://www.tg.org.au, accessed January 2021.
 Page 159 This chapter focuses on the general features of several of these malignancies in order to promote
early diagnosis and urgent referral at the primary care level. Specific common cancers are
discussed in other chapters.

Acute emergency problems that can develop with various malignancies include spinal cord
17 Malignant disease compression, malignant effusions, disseminated intravascular coagulation and hypercalcaemia.

Cancers of the tongue and mouth begin with a small hard lump, and sometimes with a little sore;
both of which are attended with pricking pains, and they spread in the same manner with
cancerous sores in other parts. It is so great an evil, that the slightest suspicion of it occasions
very great uneasiness.
WILLIAM HEBERDEN (1710–1801)
The terms malignancy, cancer and neoplasia are usually used interchangeably. The differences
between a malignant tumour and a benign tumour are summarised in TABLE 17.1 .
Table 17.1 Different characteristics of benign and
malignant tumours
Cancer in children3,4
Although uncommon in children under 15 years, cancer is the second most common cause of
death in this age group. The most common cancers (in order) are leukaemias, especially acute
lymphocytic leukaemia (34%); brain tumours, especially astrocytoma (20%), ependymomas and
medulloblastoma; lymphomas, especially non-Hodgkin (13%); neuroblastoma; Wilms tumour;
soft tissue tumours, especially rhabdomyosarcoma; and bone tumours.
Survival has improved dramatically in recent decades, indicating the value of early diagnosis and
referral for expert treatment. A recent study has revealed that the incidence rates of several
childhood cancer types steadily increased during 1983–2015.5
Studies have highlighted the importance of GPs responding to concerns of parents even if they
could find no abnormality after examination. Parents of children eventually diagnosed with
cancer and who were in dispute with their GP were alerted by signs and symptoms which were
often vague, non-specific and common, or unusual or ‘scary’. They felt that their child ‘wasn’t
right’.3

Benign Malignant Red flags for childhood cancer

Well-differentiated Undifferentiated
Lump or mass, especially neck or stomach
Non-invasive Invasive
Slow growth Rapid growth Unusual bleeding, bruising or rash
Not anaplastic Anaplastic
White eye
Not metastatic Metastatic
Persistent nausea and vomiting

Constant illness
Malignant disease accounts for 1 in 8 deaths of people under 35 years in Australia and 3 in every
10 (29%) of deaths in those over 45 years.1 The six most common causes of death from cancer in Constant tiredness and/or pallor
Australia are cancer of the lung, colorectal, lymphoma, prostate, breast and pancreas.2
Headache, especially early morning
Neoplasia, especially malignancy of the silent areas, can present as undifferentiated illness and
be a real masquerade. The so-called ‘silent’ malignancies that pose a special problem include Continuing unexplained weight loss
cancer of the ovary, pancreas, kidney, caecum and ascending colon, liver (hepatoma), melanoma
and haematological tissue. Recurrent or persistent fever

Changes which occur suddenly and persist

 Increased swelling or persistent pain in bone neuropathies and CNS abnormalities

collagen vascular disorders

Clinical manifestations nephrotic syndrome

A summary of various paraneoplastic syndromes is presented in TABLE 17.2 .

The clinical manifestations of malignancy are usually due to:

pressure effects of the growth

Table 17.2 Paraneoplastic syndromes and associated tumours: more
infiltration or metastases in various organs (e.g. liver, brain, lungs, bone, blood vessels)
common examples
systemic symptoms, including paraneoplastic effects
Hormone excess
Tumour
Systemic symptoms syndrome
Cushing Lung, kidney, adrenal, thymoma, pancreas
These can be divided into general non-specific effects and paraneoplastic syndromes, Page 160 ACTH Lung, kidney, thymoma, thyroid
which are the remote effects caused by the tumour.
Gonadotrophins Lung, hepatoma, choriocarcinoma

Undifferentiated general symptoms Other syndromes

Hypercalcaemia Lung, breast, kidney, multiple myeloma, prostate,
Tiredness/fatigue/weakness pancreas, adrenal, hepatoma

Anorexia and nausea Fever Kidney, hepatoma, lymphoma, pancreas, thymoma

Neurologic Lung, breast, thymoma, Hodgkin, prostate
Weight loss
Coagulopathy Lung, breast, hepatoma, prostate, pancreas
Fever Thrombophlebitis Kidney, pancreas, prostate
Thirst (hypercalcaemia) Polycythaemia Kidney, hepatoma
Dermatomyositis Lung, breast, pancreas
Drowsiness (hyponatraemia)

Paraneoplastic effects
Clinical approach
The paraneoplastic effects or syndromes are very important clinically because they may provide
an early clue to the presence of a specific type of cancer, in addition to the possible lethal effect A history of constitutional symptoms that are often quite undifferentiated (often bizarre) may
of the metabolic or toxic effect (e.g. hyponatraemia). These effects include: provide the clue to the possibility of an underlying malignancy. An occupational history may be
relevant to the clinical problem (see TABLE 17.3 ).
ectopic hormone production

skin abnormalities
Table 17.3 Occupational causes of cancer
metabolic effects: fever/sweats, weight loss/cachexia

haematological disorders: anaemia, erythrocytosis/polycythemia, coagulation disorder, others Agent Occupation Cancer
 Arsenic Chemical industry Lung, skin, liver
CA-15-3 Breast
Asbestos Insulation worker Mesothelioma
CA-19-9 Pancreas, colon, ovary
Benzene Glue worker, varnisher Leukaemia CEA Colorectal cancer
Radiation Mining Various Pancreatic, breast, lung, small intestine, stomach,
Soot, coal tar Chimney sweep Skin ovaries
Ultraviolet light Farmer, sailor, outdoor worker Skin PSA* Prostate cancer
Vinyl chloride PVC manufacturing Liver (angiosarcoma) hCG Choriocarcinoma
Hydatidiform mole
Trophoblastic diseases
Familial cancer b2-microglobulin Multiple myeloma, some lymphomas, CLL
Although the great majority of cancer is not inherited, some individuals carry inherited genetic
mutations from conception that predispose them to developing certain cancers, particularly *PSA = prostate-specific antigen
colorectal, breast and ovarian cancers. Refer to CHAPTER 23 .
Lung cancer
Tumour markers6
Apart from non-melanoma skin cancer, lung cancer is one of the most common cancers in
A tumour marker is an abnormal characteristic that is specific for a particular type of Page 161 Australia in terms of both incidence and death, accounting for at least 20% of cancer deaths.1 In
malignancy (e.g. the Philadelphia chromosome for chronic myeloid leukaemia). Other examples the US it accounts for 28% of cancer deaths in men and 24% of deaths in women. Only 10–25%
include human chorionic gonadotrophin (HCG) (elevated in trophoblastic tumours and germ cell are asymptomatic at the time of diagnosis but lung cancer can cause an extraordinary variety of
neoplasms of the testes and ovaries) and the oncofetal antigens—carcinoembryonic antigen clinical symptoms and signs with a reputation for several paraneoplastic syndromes. Refer to
(CEA) and alpha-fetoprotein (AFP). CHAPTERS 32 and 38 .

CEA and AFP are not specific markers but are elevated in certain tumours and are very useful in
monitoring tumour activity.
Tumour markers have a limited role in diagnosis of malignant disease because several have low
sensitivity and specificity. The most valuable are those associated with testis cancer—AFP and β
—HCG. Markers may be an adjunct to diagnosis of certain malignancies, including the rather
inaccurate CEA for bowel cancer and CA-125 for ovarian cancer. These markers are summarised
in TABLE 17.4 .
The paraneoplastic syndromes include hypercalcaemia, Cushing syndrome, carcinoid syndrome,
dermatomyositis, visual loss progressing to blindness from retinal degeneration, cerebellar
degeneration and encephalitis.
The presentation of cough and chest pain renders it less of an ‘occult’ malignancy than several
other types.
DxT malaise + weight loss + cough → lung cancer

Table 17.4 Common tumour markers

Kidney tumours
Tumour marker Condition
The most important tumours of the kidney are adenocarcinoma (80% of all kidney tumours)4 and
AFP Testicular cancer (non-seminomatous) nephroblastoma (Wilms tumour).
Hepatocellular carcinoma
GIT cancers with and without liver metastases Kidney cell cancer
CA-125 Ovarian cancer (non-mucinous), breast Kidney cell cancer (adenocarcinoma, hypernephroma) has a great diversity of presenting
symptoms, including: Early diagnosis with nephrectomy and chemotherapy leads to a very favourable prognosis (90%
5-year survival).
general symptoms of neoplasia, e.g. malaise, FUO

haematuria (60%) DxT haematuria + abdominal mass + malaise → Wilms tumour

loin pain (40%)

loin mass (palpable kidney) Neuroblastoma7

signs of anaemia Probably the most common cancer in infancy (usually <2–3 years). 90% present under Page 162
5 years. It is a tumour of the adrenal medulla (50%) and sympathetic nervous system, especially
left supraclavicular lymphadenopathy (Virchow node) retroperitoneal neural tissue in abdomen (30%) but also in chest and neck.

varicocele (left side) First symptoms often vague:

hypertension fatigue, anorexia, nausea, fever

symptoms of metastases (to liver, lungs, brain, bones): respiratory symptoms, neurological abdominal pain, abdominal swelling
symptoms and signs, bone pain, pathological fracture (vertebral collapse)
anaemia and weight loss
urinalysis—67% positive for blood
May present with metastases, e.g. bone pain.
Diagnosis is confirmed by imaging, e.g. CT/MRI.
Diagnosis: CT scan, skeletal survey; biopsy required.
Refer for radical nephrectomy.
Treatment is based on surgical resection then chemotherapy ± localised radiotherapy. Good
The classic triad of symptoms, although in a small percentage of patients, is as follows. response to therapy especially if <18 months.

DxT haematuria + loin pain + palpable kidney mass → kidney cell cancer
Wilms tumour (nephroblastoma)
Wilms tumour is responsible for 10% of all childhood malignancies. Clinical features include:4
Ovarian cancer8
Ovarian cancer has the highest mortality rate of all the gynaecological cancers because the
majority of patients present in the late stage of the disease. It is responsible for 5% of deaths in
females. It is usually asymptomatic prior to the development of metastases. Epithelial tumours
are the most common of malignant ovarian tumours. They are uncommon under 40 years of age
and the average age of diagnosis is 50 years.

peak incidence 2–3 years The most common presentation is abdominal swelling (mass and/or ascites), abdominal bloating
or discomfort. Non-specific symptoms, which may be present for a long time before diagnosis,
general symptoms of neoplasia include abnormal uterine bleeding, urinary frequency, weight loss, abdominal discomfort,
reduced capacity for food, diarrhoea, anorexia, nausea and vomiting (refer to CHAPTER 95 ).
palpable mass 80%
Diagnosis is supported by pelvic ultrasound and serum CA-125 tumour marker. A new test is the
abdominal pain 30% OvPlex serum test, which measures five serum markers.
haematuria 25% DxT abdominal discomfort + anorexia + abdominal bloating/distension →
ovarian cancer
Diagnosis is confirmed by urine cytology, ultrasound or CT/MRI scan.
 Carcinoma of caecum and ascending colon5
Malignancy in this area is more likely to present with symptoms of anaemia without the patient
noting obvious blood in the faeces or alteration of bowel habit. Refer to CHAPTER 31 .

DxT blood in stools + abdominal discomfort + change in bowel habit →

colon cancer

Pancreatic cancer
This is another cancer with vague symptoms, metastasising early and late presentation. It is
mainly ductal adenocarcinoma, which, if in the head of the pancreas, presents with painless
jaundice and if in the body and/or tail presents with epigastric pain radiating to the back, relieved
by sitting forward (refer to CHAPTER 47 ).

DxT jaundice + anorexia + abdominal discomfort/pain → pancreatic cancer

The leukaemias9
The leukaemias are caused by an acquired malignant transformation in the stem cell in the
haemopoietic system. Acute leukaemia has a rapidly fatal course if untreated, while chronic
leukaemia has a variable chronic course with an inevitable fatal outcome. See FIGURE 17.1 .
The main features of each type are as follows.

FIGURE 17.1 Clinical features of a child with leukaemia8

The usual age range for acute lymphatic leukaemia (ALL) is 2–10 years with a second peak at
about 40 years. The median age of presentation of acute myeloid leukaemia (AML) is 55–60
years.

Acute leukaemia
Page 163

Symptoms
General constitutional (e.g. malaise)
 Symptoms of anaemia Chronic myeloid leukaemia (CML)
Susceptibility to infection (e.g. sore throat, mouth ulceration, chest infection)
Clinical features
Easy bruising and bleeding (e.g. epistaxis, gingival bleeding)
A disorder of middle age, typically 40–60 years
Bone pain (notably in children with ALL) and joint pain
Insidious onset
Symptoms due to infiltration of tissues with blast cells (e.g. gingival hypertrophy in AML)
Constitutional symptoms: malaise, weight loss, fever, night sweats

DxT malaise + pallor + bone pain → ALL Symptoms of anaemia

DxT malaise + pallor + oral problems → AML Splenomegaly (very large); abdominal discomfort

Priapism

Gout
Signs
Markedly elevated white cell count (granulocytes)
Pallor of anaemia
Marked left shift in myeloid series
Petechiae, bruising
Presence of Philadelphia chromosome
Gum hypertrophy/gingivitis/stomatitis
DxT fatigue + fever/night sweats + abdominal fullness (splenomegaly) →
Signs of infection
CML
Variable enlargement of liver, spleen and lymph nodes

Bone tenderness, especially sternum Chronic lymphocytic leukaemia (CLL)

Diagnosis Clinical features
FBE and film: normochromic/normocytic anaemia; pancytopenia with circulatory blast cells; A disorder of late middle age and elderly
platelets: usually reduced
Insidious onset
Bone marrow examination
Constitutional symptoms: malaise, weight loss, fever, night sweats
PCR studies
Lymphadenopathy (large rubbery nodes)—neck, axilla, groin (80%)
Cytogenetics
Moderately enlarged spleen and liver (about 50%)
Treatment: chemotherapy, immunotherapy, stem cell therapy.
Mild anaemia
Note: As a rule, relapse of acute leukaemia means imminent death unless bone marrow
transplantation is successful. The mean 5-year survival rate for childhood ALL is about 75–80%; Lymphocytosis >15 × 109/L
for adult ALL 30%; for AML it varies with age with poorer survival, about 20%, over 55 years
of age. ‘Mature’ appearance of lymphocytes
 Consider cytogenetics Painless lymphadenopathy—localised or widespread

Note: Most cases, especially early indolent CLL, require no specific therapy but observation. Constitutional symptoms possible, especially sweating

Pruritus is uncommon
DxT fatigue + weight loss + fever/night sweats + lymphadenopathy → CLL
Extra nodal sites of disease (e.g. CNS, bone, skin, GIT)

Possible enlarged liver and spleen

The lymphomas6
Possible nodular infiltration of skin (e.g. mycosis fungoides)
Lymphomas, which are malignant tumours of lymphoid tissue, are classified as Hodgkin
Diagnosis is by lymph node biopsy.
lymphoma and non-Hodgkin lymphoma on the basis of histological appearance of the involved
lymph tissue. CXR and CT abdomen to stage.

Hodgkin lymphoma DxT malaise + fever/night sweats + lymphadenopathy → non-Hodgkin

Clinical features
Painless (rubbery) lymphadenopathy, especially cervical nodes
Constitutional symptoms (e.g. malaise, weakness, weight loss)
Fever and drenching night sweats—undulant (Pel–Ebstein) fever
Pruritus
Alcohol-induced pain in any enlarged lymph nodes
Possible enlarged spleen and liver
Diagnosis is by lymph node biopsy with histological confirmation. Other tests: FBE,
CXR, CT/MRI (to stage), bone marrow biopsy, functional isotopic scanning. Staging is
by using Ann Arbor nomenclature (IA to IVB). Treatment includes chemotherapy,
immunotherapy and radiotherapy.
lymphoma
Multiple myeloma
Multiple myeloma is a clonal malignancy of the differentiated β lymphocyte—the plasma cell. It
is regarded as a disease of the elderly, the mean age of presentation being 65 years.10 It is
asymptomatic in 20% of patients. The classic presenting triad in an older person is anaemia, back
pain and elevated ESR, which helps to differentiate it from monoclonal gammopathy of
uncertain significance (MGUS).
Other investigations include serum protein electrophoresis and immunofixation, Sestamibi scan.
Clinical features
Page 164
Bone pain (e.g. backache)—in more than 80% of patients (possible pathological fracture)
Bone tenderness, e.g. femur, ribs, spine

Weakness, tiredness, increased thirst

DxT malaise + fever/night sweats + pruritus → Hodgkin lymphoma
Anorexia and weight loss

Recurrent infections, e.g. chest infection

Non-Hodgkin lymphomas
Symptoms of anaemia
Non-Hodgkin lymphomas are a heterogeneous group of cancers of lymphocytes derived from the
malignant clones of B or T cells. Bleeding tendency

Clinical features Replacement of bone marrow by malignant plasma cells

 Impaired renal failure → kidney failure Carcinoid tumours and syndrome
Associated with amyloidosis and hypercalcaemia
Hormone secretion by carcinoid cells causes the characteristic carcinoid syndrome long before
local growth or metastatic spread of the tumour is apparent (80% metastasise). Most carcinoid
DxT weakness + unexplained back pain + susceptibility to infection →
multiple myeloma tumours are asymptomatic.

Clinical features
Diagnosis Classic triad: skin flushing (especially face), diarrhoea (with abdominal cramps), valvular
heart disease
Diagnostic criteria comprise the presence of:7
Other possible features: wheezing, telangiectasia, hypotension, cyanosis
paraprotein in serum (on electrophoresis)
Sites of tumours: appendix/ileum, stomach, bronchi
Bence–Jones protein in urine

bony lytic lesions on skeletal survey Diagnosis

Treatment is with chemotherapy including thalidomide or lenalidomide: 5-year survival rate is 24-hour urine 5-hydroxyindoleacetic acid
50% or longer if diagnosed earlier. The younger patient may be given a stem cell transplant.11 Plasma chromogranin A/hepatic ultrasound

MGUS Specialist treatment

Monoclonal gammopathy of undetermined significance (MGUS) involves the production of Surgery or other ablation: octreotide/others
paraprotein (M protein) by non-cancerous cells in the absence of other clinical manifestations of
multiple myeloma. It is associated with various disorders. MGUS is usually asymptomatic but
peripheral neuropathy can occur. No chemotherapy treatment is recommended.
Polycythaemia vera
This is a malignant proliferation of RBCs and also WBCs and platelets.
Waldenstrom macroglobulinaemia
Clinical features
This is a type of primary macroglobulinaemia due to a type of malignant plasma cell
abnormality.12 The bone marrow is infiltrated by plasmacytic lymphocytes. Patients usually Older person
present with fatigue related to anaemia. Diagnosis is by FBE, serum protein electrophoresis and
bone marrow examination. Specialist treatment includes plasmapheresis, monoclonal antibodies Fatigue
and other cytotoxic agents. An indolent disease with a median survival rate of 5 years.12
Headache, dizziness, tinnitus
Amyloidosis Pruritus after hot bath, shower

This uncommon but difficult-to-diagnose disorder caused by the deposition of amyloid Page 165 Epistaxis
protein is classified as primary, familial or secondary (from chronic infection, e.g. TB,
inflammation, RA, some cancers, others). It may be localised or generalised. Clinical features Facial plethora
depend on the organ targeted such as the heart (CCF), kidney (nephrotic syndrome), GIT
(malabsorption), brain (dementia) and peripheral nerves (e.g. CTS). Diagnosis is by tissue Splenomegaly
biopsy. Treatment, which varies with the type, is basically symptomatic and specialised. In
primary amyloid it resembles the treatment for myeloma. Thrombosis
Investigations Survival rates
FBE and haematocrit
Common cancers and their 5-year survival rates have been published by the Cancer Council
Bone marrow biopsy Victoria (see TABLE 17.5 ). These show improving trends for many cancers. The lowest
survival rate was for mesothelioma at 4%. Updated statistics reveal that the overall 5-year
Genetic mutations—JAK2 mutation survival has changed from to 68% in 2009–2013 to 69% for males and 71% for females in 2017–
2018.13
Potentially curable malignant tumours
Several tumours are curable by chemotherapy even in the advanced stage. Such tumours are as Table 17.5 Common cancers and their 5-year
follows.
survival rates (a collation of surveys)14

Haematological tumours Cancer %

Some lymphomas Testicular 98
Prostate 95
Hodgkin lymphoma
Thyroid 92
Acute lymphatic leukaemia
Melanoma 91
Acute myeloid leukaemia Breast (female) 91
Hodgkin lymphoma 87
Solid tumours Uterus 84
Choriocarcinoma Bladder 77
Non-Hodgkin lymphoma 72
Testicular teratoma
Colon 72
Neuroblastoma
Ovary 41
Wilms tumour (nephroblastoma) Stomach 33
Burkitt tumour Liver 20
Lung 19
Embryonal rhabdomyosarcoma
Pancreas 1
Tumours curable by adjuvant chemotherapy
Breast cancer (especially up to stage 2) Metastatic tumours
Osteogenic cancer
It is very helpful for the practitioner to have a working knowledge of possible primary Page 166

Soft tissue cancer sources of tumour when metastatic lesions are detected in various organs.

Colorectal cancer Common sites of metastatic presentation are the lymph nodes, liver, lung, mediastinum and
bone. Other sites include the brain, bone marrow, peritoneum, retroperitoneum, skin and the
spinal cord.
These important sites (listed below) are followed by likely primary sources, with the most likely
listed first.
Bone. Breast, prostate, lung, Hodgkin lymphoma, kidney, thyroid, melanoma
Brain. Breast, lung, colorectal, lymphoma, kidney, melanoma, prostate
Liver. Colon, pancreas, liver, stomach, breast, lung, melanoma
Lung and mediastinum. Breast, lung, colorectal, kidney, testes, cervix/uterus, Hodgkin
lymphoma, melanoma
Lymph nodes:
High cervical. Hodgkin lymphoma, lymphoma, squamous cell carcinoma, oropharynx,
nasopharynx
Low cervical. Lung, stomach, lymphoma, Hodgkin lymphoma, oropharynx, larynx, skin,
tongue
Axillary. Breast, lung, lymphoma
Inguinal. Lymphoma, ovary, uterus, vulva, prostate, skin
Retroperitoneum. Lymphoma, Hodgkin lymphoma, ovary, uterus, testes, prostate
Skin. Lung, colorectal, melanoma, Kaposi sarcoma
It is important to keep in mind those malignancies that are potentially curable and to refer as
soon as possible.
Cancer with an unknown primary
Cancer without a clear primary source is present in about 5% of all cases. Some patients may
have no symptoms except undifferentiated general ones, such as fatigue and weight loss, and
anorexia may be present. Other symptoms include bone pain, dyspnoea and lymphadenopathy. If
the diagnosis cannot be made on the history, physical examination and baseline tests, then the
key to excluding treatable primaries is adequate immunohistological staining on a tissue biopsy.
It is worth referring for investigation as these could be treatable primaries. Adenocarcinoma is
common in 40% resulting from lung, colorectal and pancreatic cancer. Poorly differentiated
neoplasms include lymphoma, melanoma and sarcoma. The mean survival time in patients with
an unknown primary is 6 months.15
Prevention
Preventive measures for malignant disease are addressed in more detail in CHAPTER 6 . The
significant decrease in deaths from cancer of the stomach in this country in recent years is
probably reflected in our improved diet with more fresh fruit and vegetables. Important
preventive measures include an appropriate healthy diet, no smoking, sun protection, HPV
vaccination and perhaps safe sex measures. Of concern is the rapid increase in the incidence of
prostate cancer, chronic myeloid leukaemia, myeloma and non-Hodgkin lymphoma, and
adenocarcinoma of the oesophagus.
Triads to consider
DxT anorexia + weight loss + jaundice (± epigastric pain) → pancreatic
cancer
DxT fatigue + dysphagia + weight loss → oesophageal cancer
DxT anorexia + dyspepsia + weight loss → stomach cancer
DxT headache + a/n/v + ataxia → medulloblastoma (children)
DxT fever + malaise (extreme) + a/n/v (± anaemia) → neuroblastoma
DxT mental dysfunction + vomiting + (waking) headache → cerebral
tumour (late)
DxT indrawn eye + small pupil + ptosis (± anhydrosis) → Horner
syndrome (?lung cancer)
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Bladder cancer
Bowel cancer
Breast cancer/lumps
Cancer
Leukaemia
Lung cancer
Lymphoma
 Melanoma 10 Davey P. Medicine at a Glance (3rd edn). Oxford: Blackwell Publishing, 2010: 36–7.

Prostate (various) 11 Moreau P et al. Frontline therapy of multiple myeloma. Blood, 14 May 2015; 125(20):
3076–84. [PMID 25838345]
Testicle (various)
12 Oza A et al. Waldenstrom macroglobinemia: prognosis and management. Blood Cancer J,
Skin (various) 2015; March 27(5): e394.

Resources 13 Australian Institute of Health and Welfare 2017. Cancer in Australia 2017. Cancer series
no.101. Cat. no. CAN 100. Canberra: AIHW, 2017: 72.
Optimal cancer care pathways (prevention, early detection, screening recommendations): 14 Giles G. Cancer Survival in Victoria. Melbourne: Cancer Council Victoria, 2009.
jon.emery@unimelb.edu.au
15 Davey P. Medicine at a Glance (3rd edn). Oxford: Blackwell Publishing, 2010: 380.
Royal Australian College of General Practitioners. Early detection of cancers. In: Guidelines for
Preventive Activities in General Practice (9th edn). Melbourne: RACGP, 2016.

Page 167

References
1 Australia’s Health. Causes of Death. Canberra: Australian Institute of Health, 2007.

2 Australia’s leading causes of death, 2019. Causes of Death, Australia, 2019. Australian
Bureau of Statistics. Available from: https://www.abs.gov.au/statistics/health/causes-
death/causes-death-australia/latest-release#australia-s-leading-causes-of-death-2019,
accessed February 2021.

3 Halliday J. Malignant disease in children: the view of a general practitioner and parent. In:
Baum J, Dominica F, Woodward R. Listen My Child Has a Lot of Living to Do. Oxford:
Oxford University Press, 1990: 19–27.

4 Trahair T. Cancer in children: how to treat. Australian Doctor; 15 August 2008: 31–8.

5 Youlden DR et al. The incidence of childhood cancer in Australia, 1983–2015, and

projections to 2035. Med J Aust, 2020; 212(3): 113–120.

6 Hamilton W, Peters TJ. Cancer Diagnosis in Primary Care. Oxford: Elsevier, 2007.

7 Robinson MJ, Roberton DM. Practical Paediatrics (5th edn). Edinburgh: Churchill
Livingstone, 2003: 535.

8 Hamilton W et al. Risk of ovarian cancer in women with symptoms in primary care:
population based case–control study. BMJ, 2009: 339.

9 Vowels MR. Common presentations and management of leukaemia in childhood. Aust

Fam Physician, 1994; 23: 1519–21.
 Page 168
18 Baffling viral and protozoal infections
It is certainly a one-sided opinion—even though generally adopted at the moment—that all
infectious agents which are still unknown must be bacteria. Why should not other
microorganisms just as well be able to exist as parasites in the body of animals?
ROBERT KOCH (1843–1910), ZUR UNTERSUCHUNG VON PATHOGENEN ORGANISMEN (1881)
Almost any infection, especially if subacute or insidious in its onset, can be baffling and can
belong to the ‘fever of undetermined origin’ group of infections. Syphilis and tuberculosis were
the great mimics of the past. Now malaria and Epstein–Barr mononucleosis (EBM) can be
regarded as important mimics. EBM (Epstein–Barr mononucleosis, infectious mononucleosis,
glandular fever) can be a perennial baffler and can be confused with HIV infection in its primary
clinical phase. In the past decade we have encountered the emergence of coronaviruses that cause
deadly acute respiratory distress syndromes ranging from endemics to pandemics. Any of the
febrile diseases can be confusing before declaring themselves with classic symptoms such as the
jaundice of hepatitis or the rash of dengue fever, or before serological tests become positive.
Viral and protozoal infections that can present as masquerades include:
HIV infection (especially primary)
EBV
TORCH organisms: toxoplasmosis, rubella, CMV, HSV
hepatitis A, B, C, D, E
mosquito-borne infections: malaria, dengue fever, yellow fever/other haemorrhagic fevers,
Japanese encephalitis, Ross River fever, West Nile fever
coronaviruses
The TORCH organisms (TORCH being an acronym for toxoplasmosis, rubella, CMV and
herpes) are well known for their adverse intra-uterine effects on the fetus. Three are viral
(toxoplasmosis is a protozoan) and the first three of these fetal pathogens are acquired by
passage across the placenta. Most of these organisms are noted for being opportunistic infections
in immunocompromised patients, especially in later stage HIV infection.
The mosquito-borne infections causing encephalitis and haemorrhagic fevers are mainly viral,
apart from the protozoan causing malaria, and are of particular significance in travellers
returning from endemic areas (refer to CHAPTER 129 ).
The major protozoal diseases of humans are:
blood: malaria, trypanosomiasis
GIT: giardiasis, amoebiasis, cryptosporidium
tissues: toxoplasmosis, leishmaniasis, babesiosis
Most of the world’s serious protozoal infections—malaria, African trypanosomiasis,
leishmaniasis, amoebiasis—occur in tropical areas and are listed and explained in
CHAPTER 129 .
Four similar clinical presentations
Four infections—EBV, primary HIV, CMV and toxoplasmosis—produce almost identical
clinical presentations and tend to be diagnosed as glandular fever or pseudoglandular fever. It is
important for the first contact practitioner to consider all four possibilities, especially keeping in
mind the possibility of HIV infection.
Epstein–Barr mononucleosis
EBM is a febrile illness caused by the human herpes virus 4 (Epstein–Barr) virus, one of the
eight known herpes viruses. It is often called ‘the great imitator’ because of its multisystem
involvement. It can mimic diseases such as HIV primary infection, streptococcal tonsillitis, viral
hepatitis and acute lymphatic leukaemia. There are three forms: the febrile, the anginose (with
sore throat, see FIG. 18.1 ) and the glandular (with lymphadenopathy).
 The typical clinical features are presented in TABLE 18.1 and FIGURE 18.2 .

FIGURE 18.1 Tonsillitis of Epstein–Barr mononucleosis. This is often

confused with bacterial tonsillitis.

It may occur at any age but usually between 10 and 35 years; it is commonest in the 15–25 years
age group. In most young children primary EBV infection is asymptomatic.

Occurrence and transmission

Page 169
EBM has an annual incidence of 4–5 new cases in a population of 2500.1 It usually
affects people in their late teenage years or early 20s. It is endemic in most countries, affecting
over 95% of the adult population worldwide. Subclinical infection is common in young children.
The incubation period is at least 1 month but data are insufficient to define it accurately. FIGURE 18.2 Clinical features of Epstein–Barr mononucleosis
EBV is excreted in oropharyngeal secretions during the illness and for some months (sometimes
years) after the clinical infection. EBM has a low infectivity and isolation is not necessary. It is Table 18.1
apparently transmitted only by close contact, such as kissing and sharing drinking vessels. Clinical features of EBM1,3,4

Progress of the primary infection is checked partly by specific antibodies (which might prevent Symptoms
cell-to-cell spread of the virus) and partly by a cellular immune response, involving cytotoxic T
cells, which eliminates the infected cells. This response accounts for the clinical picture. The Slow-onset malaise 1–6 weeks
virus is never eliminated from the body. The nature of EBV is not yet fully understood. Fever
Myalgia
Second attacks and fatalities do occur and there is a possible association between EBM and
Headaches, anorexia
lymphoma.2
Blocked nose—mouth breathing
Clinical features Nasal quality to voice
Sore throat (85%)
 Anorexia, nausea ± vomiting
Rash—primary 5%
Dyspepsia
Clinical findings
Exudative pharyngitis (84%)
Petechiae of palate (not pathognomonic) (11%)
Lymphadenopathy, especially posterior cervical
Rash—maculopapular
Splenomegaly (50%)
Jaundice ± hepatomegaly (5–10%)
Clinical or biochemical evidence of hepatitis

DxT malaise + sore throat + fever + lymphadenopathy → EBM

The rash

The rash of EBM is almost always related to antibiotics given for tonsillitis. The primary rash,
most often non-specific, pinkish and maculopapular (similar to that of rubella), occurs in about
5% of cases only.

The secondary rash is most often precipitated by one of the penicillins, especially Page 170
ampicillin or amoxicillin. About 90–100% of patients prescribed ampicillin or
amoxicillin will be affected; up to 50% of those given penicillin will develop the rash. It can be
extensive and sometimes has a purplish tinge (see FIG. 18.3 ).

FIGURE 18.3 Typical purplish maculopapular rash of EBM precipitated by

ampicillin prescribed for the acute tonsillitis of EBM

Diagnosis
The following laboratory tests confirm the diagnosis of EBM:
 WCC shows absolute lymphocytosis.
Blood film shows atypical lymphocytes.
Paul–Bunnell or Monospot test for heterophile antibody is positive (although positivity can be
delayed or absent in 10% of cases; 85% positive in adults and older children).
Diagnosis confirmed (if necessary) by EBV-specific antibodies, viral capsid antigen (VCA)
antibodies—IgM, IgG and EB nuclear antigen (EBN-A).
Consider throat culture to rule out streptococcal pharyngitis.
Culture for EBV and tests for specific viral antibodies are not performed routinely.
False positives for the Paul–Bunnell test include:
hepatitis
Hodgkin lymphoma
acute leukaemia
Prognosis
EBM usually runs an uncomplicated course over 6–8 weeks. Major symptoms subside within 2–
3 weeks. Patients should be advised to take about 4 weeks off work.
Treatment
Supportive measures (no specific treatment)
Rest (the best treatment) during the acute stage, preferably at home and indoors
NSAIDs or paracetamol to relieve discomfort
Gargle soluble aspirin or 30% glucose or saline to soothe the throat
Advise against alcohol, fatty foods, continued activity, especially contact sports, for 8 weeks
(risk of splenic rupture)
Ensure adequate hydration
Corticosteroids reserved for: neurological involvement, thrombocytopenia, threatened airway
obstruction (not recommended for uncomplicated cases)
Post-EBM malaise
Some young adults remain debilitated and depressed for some months. Lassitude and malaise
may extend up to a year or so.
Cytomegalovirus infection
CMV has a worldwide distribution and causes infections that are generally asymptomatic. The
virus (human herpes virus 5) may be cultured from various sites of healthy individuals. It has its
most severe effects in the immunocompromised, especially those with AIDS, and also in
recipients of solid organ transplants and bone marrow grafts; 90% of AIDS patients are infected
with CMV and 95% have disseminated CMV at autopsy. CMV infection can be an important
development following massive blood transfusion, including those given to infants or from organ
transplantation. The incubation period of CMV ranges from 20 to 60 days and the illness
generally lasts about 2 to 6 weeks.3
Clinical features
Three important clinical manifestations are described.
1. Perinatal disease Page 171
Intra-uterine infection may cause serious abnormalities in the fetus, including CNS
involvement (microcephaly, hearing defects, motor disturbances), jaundice,
hepatosplenomegaly, haemolytic anaemia and thrombocytopenia. Up to 30% of CMV-affected
infants have mental retardation.2
2. Acquired CMV infection
In healthy adults, CMV produces an illness similar to EBM with fever, malaise, arthralgia and
myalgia, generalised lymphadenopathy and hepatomegaly. However, cervical
lymphadenopathy and exudative pharyngitis are rare.
The infection may be spread by blood transfusion, and CMV should be suspected on clinical
grounds in a patient with a febrile illness resembling EBM following major surgery, such as
open heart surgery or kidney transplantation, and where extensive transfusion has been
necessary.
The fever often manifests as quotidian intermittent fever spiking to a maximum in the mid-
afternoon and falling to normal each day (see CHAPTER 42 ). There is often a relative
lymphocytosis with atypical lymphocytes but the heterophile antibody test is negative. Liver
function tests are often abnormal.
Diagnosis: Specific diagnosis can be made by demonstrating rising antibody titres from acute
and convalescent (2 weeks) sera. A four-fold increase indicates recent infection. PCR testing
can be used. The virus can be isolated from the urine and blood.
3. CMV disease in the immunocompromised host
Disseminated CMV infection occurs in the immune-deficient person, notably HIV infection
causing opportunistic severe pneumonia, retinitis (a feature of AIDS), encephalitis and diffuse
involvement of the gastrointestinal tract.
Treatment
In the patient with normal immunity no treatment apart from supportive measures is required, as
the infection is usually self-limiting. In immunosuppressed patients various antiviral drugs, such
as ganciclovir, foscarnet and fomivirsen (intra-ocular) have been used with some benefit.5
Toxoplasmosis
Toxoplasmosis, which is caused by Toxoplasma gondii, an obligate intracellular protozoan, is a
worldwide, albeit rare, infection. The definitive host in its life cycle is the cat (or pig or sheep)
and the human is an intermediate host. However, clinical toxoplasmosis is very uncommon.
Infection in humans usually occurs through eating foodstuffs contaminated by infected cat
faeces. Its main clinical importance is an opportunistic infection.
The five major clinical forms of toxoplasmosis are:5
1. asymptomatic lymphadenopathy (the commonest)
2. lymphadenopathy with a febrile illness, similar to EBM
3. acute primary infection: a febrile illness similar to acute leukaemia or EBM; a rash,
myocarditis, pneumonitis, chorioretinitis and hepatosplenomegaly can occur
4. neurological abnormalities—includes headache and neck stiffness, sore throat and myalgia
5. congenital toxoplasmosis—this is a rare problem but if it occurs it typically causes CNS
involvement and has a poor prognosis
In the immunocompromised, clinical forms 3 and 4 are typical features with meningoencephalitis
being a serious development.
Diagnosis
Diagnosis is by serological tests (to show a four-fold rise in antibodies), which are sensitive and
reliable.
Treatment
Patients with a mild illness or with asymptomatic infection require no treatment. Children under
5 years may be treated to avoid the possible occurrence of chorioretinitis. Symptomatic patients
are treated with pyrimethamine plus sulfadiazine. Clindamycin is usually used in pregnant
patients.
HIV/AIDS
HIV: a modern masquerade
Human immunodeficiency virus (HIV), the cause of the well-known AIDS, can rightly be
included as one of the clinical masquerades of modern medicine. Public health measures in the
Western world have limited the spread of the infection. By contrast, the incidence in Africa and
Asia continues to rise at an alarming rate. According to the World Health Organization, at the
end of 2019,6 38 million adults and children were living with HIV worldwide, with 1.7 million
newly infected, while 690 000 people died from HIV-related causes.
In 2012, the average age of people newly diagnosed with HIV infection was 37 years Page 172
and about 86% were male; most infections are in men who have sex with men (MSM).
The conversion rate of HIV to AIDS has been 33% but it is improving with antiretroviral therapy
(ART), which has dramatically changed people’s lives. HIV is now a chronic disease
management problem. The introduction of combination treatment with the protease inhibitors in
November 1995 changed the previously understood natural history of the disease. Interestingly,
there has been two reported cases of cure with stem-cell treatment.7
The benefit of early diagnosis has become even more impressive since the discovery that HIV is
not a latent infection throughout most of its course. Soon after initial infection, an explosive
replication of HIV occurs, which is brought under control by the immune system in 6 to 8 weeks
as the host-versus-virus interaction reaches an active and dynamic equilibrium. This dynamic
situation continues throughout a person’s lifetime, with as many as 10 billion new viroids
produced and up to 2 billion CD4 T lymphocytes destroyed and replaced daily. Clinical
immunodeficiency develops when the body’s ability to replace CD4 cells is finally exhausted,
resulting in further uncontrolled viral replication. Viral load assays based on molecular
techniques have revolutionised our understanding of the natural history of HIV disease. These
advances make it imperative to make the diagnosis early in the course of the disease in order to
start combination treatment to lessen the viral load.
The management of HIV infection is a specialised field but the GP is central in prevention,
diagnosis, counselling, monitoring and shared management of HIV disease.
Key facts and checkpoints
HIV is a retrovirus with two known strains that cause a similar spectrum of
syndromes: HIV-1 and HIV-2 (mainly confined to West Africa). It infects T-helper
cells bearing the CD4 receptor.
Always consider HIV in those at risk: enquire about history of STIs, injection of
illicit drugs, past blood transfusions, sexual activities and partners.
About 50% of patients develop an acute infective illness similar to glandular fever
within weeks of acquiring the virus (the HIV seroconversion illness).8 The main
features are fever, lymphadenopathy, lethargy and possibly sore throat, and a
generalised rash.
If these patients have a negative infectious mononucleosis test, perform an HIV
antibody test, which may have to be repeated in 4 weeks or so if negative.
Patients invariably recover to enter a long period of good health for 5 years or
more.9
The so-called ‘set point’ is where the plasma viral load drops to a steady level for
many years.
Pneumocystis jiroveci (ex carinii) pneumonia (PJP) is the commonest
presentation of AIDS.
Approximately 15–40% of HIV-positive children are infected from HIV-infected
mothers.10
Infants born to these mothers may develop the disease within a few months, with
30% affected by the age of 18 months.
The time for the onset of AIDS in HIV-affected adults varies from 2 months to 20
years or longer; the median time is around 10 years.
In family practice the most common presentation of HIV-related illness is seen in
the skin/oral mucosa, for example, candidiasis and herpes.11
TB is a common, serious but treatable complication of HIV.
HIV antibody testing is a two-stage process: the antigen–antibody test for
screening followed by another method (e.g. Western blot) if positive.
Practice tip
Definition of AIDS: HIV +ve plus one or more of the clinical diseases that are a
feature of AIDS, e.g. PJP, KS or CD4 <200.
Occurrence and transmission
Page 173
HIV can be isolated from blood, tissues, semen, saliva, breast milk, cervical and
vaginal secretions and tears of infected persons. HIV is transmitted in semen, blood and vaginal
fluids, transplanted organs and breast milk through:
unprotected sexual intercourse (anal or vaginal) and in rare cases oral sex with an infected
person
infected blood entering the body (through blood transfusion or by IV drug users sharing
needles/syringes)
needle-stick injury
artificial insemination, organ transplantation
infected mothers (to babies during pregnancy, at birth or in breast milk)

New rapid HIV tests or point of care HIV tests will overcome barriers, including Infection with HIV can occur via the vagina, rectum or open cuts and sores, including any on the
delays to diagnosis. lips or in the mouth. Social (non-sexual) contact and insect vectors have not been implicated in
transmission.
The seroconversion period from acquiring HIV infection to a positive antibody test
varies between individuals: this period is known as the ‘window period’. Stages
All HIV-infected patients require regular monitoring for immune function and viral The clinical stages of HIV disease are summarised in TABLE 18.2 .12
load. The viral load test monitors viral activity.

The level of immune depletion is best measured by the CD4 positive T

Table 18.2
lymphocyte (T helper cell) count—the CD4 cell count. The cut-off points for good Clinical stages of HIV disease12,13
health (asymptomatic) and severe disease appear to be 500 cells/µL and 200
cells/µL respectively.9 Clinical stage Common clinical features CD4 count
Most patients with AIDS will need lifelong8 daily medication with a combination of Seroconversion Fever, headache (may have aseptic Transient
antiretroviral drugs. illness meningitis), sore throat, decrease,
(self-limited 1–3 maculopapular rash, commonly
Current management focuses on treating HIV as a chronic disease. weeks) lymphadenopathy, splenomegaly followed by
Atypical lymphocytes on FBE cells a return to
A leading concerning cause of death is cardiovascular disease. near-normal
levels
 Asymptomatic Headaches Usually Differential diagnoses are given in TABLE 18.3 .
Persistent generalised >500 cells/
lymphadenopathy µL
Gradual Table 18.3 Differential diagnoses of primary HIV
decrease infection
of 50–80
cells/µL
Epstein–Barr mononucleosis
Symptomatic— Oral and vaginal candidiasis, oral Usually Syphilis: secondary
early hairy leukoplakia, seborrhoeic 150–500 TORCH organisms:
dermatitis, psoriasis, recurrent cells/µL
toxoplasmosis
varicella zoster infection, cervical
dysplasia, unexplained fever, sweats, rubella
weight loss, diarrhoea, tuberculosis CMV (especially)
Symptomatic— PJP, Kaposi sarcoma (KS), Usually herpes simplex
late oesophageal candidiasis, cerebral <150 cells/ Disseminated gonococcal infection
toxoplasmosis, lymphoma, HIV-1 µL Hepatitis A, B, C, D or E
associated dementia complex, Influenza
cryptococcal meningitis
Other virus infections
Advanced CMV retinitis, cerebral lymphoma, Usually <50
Mycobacterium avium complex (MAC) cells/µL
infection
DxT fever + severe malaise + lymphadenopathy → acute HIV
Source: Reproduced with permission from McCoy R., Alarm bells. When to worry about your patient with HIV. Aust Fam Physician, 1997; 26: 803–
9

Acute (seroconversion) illness Subsequent stage

At least 50% of patients have an acute illness associated with seroconversion. The illness usually After the acute illness, HIV disease passes into an asymptomatic stage of variable length, up to
occurs within 6 weeks of infection and is characterised by fever, night sweats, malaise, severe several years, but 30% have persistent generalised lympadenopathy.
lethargy, anorexia, nausea, myalgia, arthralgia, headache, photophobia, sore throat, diarrhoea,
Later constitutional symptoms develop along with minor opportunistic infections such as oral
lymphadenopathy, generalised maculoerythematous rash and thrombocytopenia. The main
candidiasis, herpes simplex and herpes zoster. This early symptomatic stage is referred to as
symptoms are headache, photophobia and malaise/fatigue. Neurological manifestations,
AIDS-related complex and is regarded as a prodromal to AIDS.
including meningoencephalitis and peripheral neuritis, can occur. Acute HIV infection should be
considered in the differential diagnosis of illnesses resembling glandular fever. This illness,
which resembles infectious mononucleosis, is self-limiting and usually resolves within 1 to 3 AIDS-defining conditions
weeks. However, chronic lethargy, depression and irritability may persist after the acute illness.
The original US Centers for Disease Control (CDC) classification has been modified with time to
Non-specific viraemic sequelae such as mucosal ulceration, desquamation, exacerbation of
provide a more simplified scheme for defining AIDS. The HIV/AIDS case surveillance system
seborrhoea and recurrences of herpes simplex may occur (see FIG. 18.4 ).
simply specifies a list of clinical conditions associated with the late stages of HIV infection as
Acute illness may be accompanied by neutropenia, lymphopenia, thrombocytopenia, Page 174 being ‘AIDS-defining’.13
and mildly elevated ESR and serum transaminases. During recovery lymphocytosis
The AIDS-defining conditions are:
may occur with appearance of atypical mononuclear cells and an inversion of the CD4+:CD8+
ratio due to elevation of CD8+ cells. It is seronegative for EBV. candidiasis of bronchi, trachea or lungs
 candidiasis, oesophageal Clinical features
cervical cancer, invasive There is a multiplicity of clinical findings in HIV infection (see FIG. 18.4 ).
coccidioidomycosis, disseminated or extrapulmonary

cryptococcosis, extrapulmonary

cryptosporidiosis, chronic intestinal (>1 month’s duration)

cytomegalovirus (CMV) disease (other than liver, spleen or nodes)

CMV retinitis (with loss of vision)

encephalopathy, HIV-related

herpes simplex virus (HSV): chronic ulcer(s) (>1 month’s duration); or bronchitis,
pneumonitis or oesophagitis

histoplasmosis, disseminated or extrapulmonary

isosporiasis, chronic intestinal (>1 month’s duration)

Kaposi sarcoma

lymphoma, Burkitt (or equivalent term)

lymphoma, immunoblastic (or equivalent term)

lymphoma, primary, of brain

Mycobacterium avium complex of M. kansasii, disseminated or extrapulmonary

Mycobacterium tuberculosis, any site (pulmonary or extrapulmonary)

Mycobacterium, other species or unidentified species, disseminated or extrapulmonary

Pneumocystis jiroveci pneumonia (PJP)

Salmonella septicaemia, recurrent

toxoplasmosis of brain

wasting syndrome due to HIV

The Australian AIDS surveillance case definition does not refer to the CD4 cell count, although
in the US AIDS is also defined by a CD4 cell count of <200/µL, regardless of clinical condition.
At levels below this, people will become increasingly vulnerable to AIDS-defining conditions.
 Respiratory

Sinusitis

Non-productive cough, increasing dyspnoea and fever: due to opportunistic pneumonias

More than 50% of patients present with PJP which may have an abrupt or insidious onset.6 With
the insidious type of onset, examination and chest X-ray are often normal early. Many other
agents (e.g. CMV, cryptococcosis and TB) can be responsible. Exclusion of PJP is important as
this condition carries a high mortality if untreated.12

Page 175

Practice tip
Severe PJP can have little or no chest signs, and, unless treated, patients can
rapidly deteriorate and die.

Gastrointestinal

Chronic diarrhoea (many causes) with weight loss or dehydration

Neurological

Headache

Progressive dementia (HIV encephalopathy)

Ataxia due to myelopathy

Seizures

Mononeuritis
FIGURE 18.4 Possible clinical features of primary HIV infection
Guillain–Barré type mononeuropathy
Clinical features of progression—chronic fever, cough <1 month, chronic diarrhoea, oral thrush, Toxoplasma encephalitis
weight loss.
Cryptococcal meningitis
Fever
Peripheral neuropathy
Usually this is of unknown origin
Progressive visual loss (CMV retinitis)
Weight loss
CNS lymphoma
Usually severe and muscle wasting
Oral cavity

Aphthous ulcers

Angular cheilitis

Periodontal/gingival disease Page 176

Tonsillitis

Oral candidiasis

Oral hairy cell leukoplakia (frequently mistaken for candidiasis but affects lateral border of
tongue)
FIGURE 18.5 Kaposi sarcoma of the skin on the face of a man with AIDS
Genitourinary
Photo courtesy Hugh Newton-John
Cervical dysplasia
Psychological
Vaginal candidiasis
FIGURE 18.6 presents the chronology of HIV-induced disease correlated with time since
Various STIs (e.g. HSV, HPV)
infection and CD4 cell levels.
Skin

Impetigo

Warts

HSV

Shingles, especially multidermatomal

Seborrhoeic dermatitis

Cutaneous mycoses

Kaposi sarcoma (painless red-purple lesions on any part of the body including palms, soles,
oral cavity and other parts of the GIT) (see FIG. 18.5 ).

FIGURE 18.6 Chronology of HIV-induced disease correlated with time since

infection
Abbreviations: CMV = cytomegalovirus; HIV = human immunodeficiency virus; KS = Kaposi sarcoma; MAC = Mycobacterium avium
 complex; NHL = non-Hodgkin lymphoma; PJP = Pneumocystis jiroveci pneumonia.
Source: David Baker et. al. HIV infection as a chronic disease. MedicineToday, 2014; 15 (2): 18. Courtesy of ASHM. Reproduced
a very healthy balanced diet: high fruit and vegetable intake, pure fruit juices, high fibre, low
with permission from the Australasian Society for HIV Medicine (ASHM). fat, high complex carbohydrates

Investigations and diagnosis12 toxic avoidance: processed foods, caffeine, illicit drugs, alcohol, cigarettes
Page 177 relaxation and meditation (reduction and self-monitoring of stress levels)
The laboratory investigation of AIDS covers three broad areas:

1. Tests for HIV infection: appropriate sleep and exercise

antigen–antibody test (ELISA screen) or HIV rapid test (at point of care). If positive— consider supplementary antioxidants
Western blot technique (used for confirmation)
support groups and continuing counselling
2. Tests of immune function:
Treatment (medication)15,16
CD4 lymphocyte counts—the strongest predictor of possible clinical manifestations of HIV
infection Optimal antiretroviral therapy (ART), which has dramatically changed the outlook, now depends
on the use of combinations of drugs. Monotherapy is no longer accepted practice. The
low CD4 cells (counts <500 cells/µL) = defective cell immunity9,11 recommendations for the use of antiretroviral therapy are constantly changing. Updated
guidelines can be found on the internet at: www.bhiva.org, www.ashm.org.au or
counts <200 cells/µL = severe immunodeficiency www.aidsinfo.nih.gov/guidelines. Viral resistance is the limiting factor, no matter how potent an
individual drug may be at reducing viral load initially. The trials of combined zidovudine and
3. Plasma HIV RNA (viral load): a measure of the serum level of RNA of the HIV virus— lamivudine demonstrated both a more sustained decrease in plasma viral load than either drug
correlates with response to treatment and progression to AIDS and death did alone, and a more delayed development of viral resistance. There are now many antiretroviral
drugs available for use in Australia (see TABLE 18.4 ) and clinicians have a much wider scope
4. Genotype resistance (HLA B5701 if treatment with abacavir planned) of treatments available. However, many questions remain about combination therapy and further
trials using viral load as a clinical endpoint should provide pointers for treatment. Currently the
5. Tests for opportunistic infections and other problems, e.g. other STIs, EBV, CMV, hepatitis, use of three drugs, referred to as highly active antiretroviral therapy (HAART), is favoured.
Mantoux test There are many possible combinations. Side effects, which are often severe—including
cardiovascular disease—and affect the quality of life, remain a problem. Resistance to HAART
6. Routine general health tests, e.g. FBE, U&E, blood glucose, lipids, eGFR, LFTs
is now a problem. Effective (90%) results have been achieved with triple therapy.17 Investigators
are evaluating the benefits of dual therapy through studies which show promising outcomes.18
Management Long-term treatment with fewer agents would be popular if of proven efficacy. Subcutaneous
Patients with HIV infection who invariably have to cope with profound psychological stress injections of interleukin-2 have been shown to boost immunity.
require considerable psychosocial support, counselling and regular assessment from a non-
judgmental, caring practitioner. Best practice is referral to a specialist clinic for shared care.

The holistic approach Currently available antiretroviral drugs15

Most people with HIV infection will take ‘natural therapies’. This should be viewed as being Non-nucleoside
Nucleoside RT* Protease inhibitors (HIV Fusion (entry) Integrase
complementary to the management suggested by the GP, and the patient should be encouraged to RT inhibitors
inhibitors (NRTIs) PIs) inhibitors inhibitors
tell his or her doctors of the alternative medicines being taken. Anecdotal reports suggest that (NNRTIs)
75% of people with HIV regularly use ‘natural therapies’,14 and in the setting of the long-term
nevirapine saquinavir enfuvirtide raltegravir
nature of the condition it is important for doctors to be supportive and create a climate of
(NEV) (SQV) (T20) (RAL)
acceptance around these health practices.
zidovudine delavirdine indinavir (IDV) maraviroc dolutegravir
Positive lifestyle factors include: (DLV) ritonavir (RTV) (MVC)≠ elvitegavir
anosine efavirenz fosamprenavir Combination HAART (highly active antiretroviral therapy)
(EFV) (FAPV) of classes
ricitabine etravirine lopinavir/ritonavir e.g. This is a combination of three (or more) agents with one or more penetrating the blood–brain
(ETR) (LPV) barrier.
Atripla
rilpivirine atazanavir (ATZ) (TFV, EFV,
(RPV) FTC) Pneumocystis jiroveci15
tipranavir (TPV)
vudine darunavir (DRV) Eviplera
This is an important cause of pneumonia and not usually seen until the CD4+ cell count is <200/
(TFV, FTC,
RPV) µL. Treatment, which is determined by the severity of the disease, is usually treated with
T + 3TC
trimethoprim + sulfamethoxazole (cotrimoxazole) oral or IV for 21 days depending on severity,
mbivir) which is also given orally as prophylaxis when the cell count reaches <200. Supplementary or
T + 3TC alternative agents are IV pentamidine or oral dapsone, clindamycin, primaquine and
bacavir atovaquone.15

Acute HIV infection

Treatment of seroconversion illness is not of proven clinical benefit (to date) but is optional and
some clinics offer it.
*RT = reverse transcriptase
**a nucleotide analogue RTI Pre-exposure prophylaxis (PrEP)
≠a CCR5 antagonist

This can be considered for those at risk. Selected tablets such as tenofovir or Truvada are taken
When to start19,20 around time of sex.21,22 Refer to your local sexual health clinic (SHC).

Treatment should be initiated and monitored by a specialist in HIV medicine.
This is a controversial issue. CD4 cell count guidelines:
<350/µL—treat with ART
350–500/µL—strongly consider, offer or closely monitor (data support evidence at this
level)15
Post-exposure prophylaxis (PEP)
Undertake a risk assessment—PEP is not recommended for low-risk cases but those with
significant high risk should be considered for PEP. It should be commenced within 72 hours of
exposure and usually involves 2–3 antiretroviral agents taken daily for 28 days.22 Refer to
‘Needle-stick and sharps injuries’ for protocol (see CHAPTER 123 ) and your consultant or
SHC.

Current thinking favours early treatment. Refer to current international guidelines (see Page 178 The HIV test: the role of the family doctor20
Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine:
www.ashm.org.au). The most widely used and preferred regimen consists of 2 NRTIs plus either
The astute GP will use the opportunity of a request for an HIV test to explore preventive and
an NNRTI or a protease inhibitor or an integrase inhibitor.15 sexual health issues. A full sexual history and drug history must incorporate the ‘three Cs’ of
counselling, confidentiality and consent in the pre-test interview.
Be aware of:
Many HIV-positive patients have described how the results left them bewildered and devastated,
drug interactions (www.hiv-druginteractions.org)
especially with an unexpected positive result. Part of the reason given was the lack of any form
of pre-test counselling. Ideally, management involves shared care with an expert consultant, with
contraindicated drug combinations15
whom close liaison is essential.
adverse effects15
Contact tracing
opportunistic infections
Contacts of HIV-positive patients should be traced and offered testing with Page 179 damaged to offer reliable protection during anal intercourse. A water-based lubricant such as K-
16
counselling. Patients with HIV infection must be advised of the risk they pose to Y gel or Lubafax should be used: oil-based lubricants such as Vaseline weaken condoms.
seronegative sexual partners. A person who has HIV or is at risk of HIV infection must not make
any blood, semen or tissue donation. Because of the probable association between genital Discuss alternative sex practices, including touching, cuddling, body-to-body rubbing and
ulcerative disease and HIV transmission, the effective management of STIs is part of the general mutual masturbation.
strategy for HIV control.
Emphasise the importance of being in control with drug taking, IV usage, safe sex practices and
the needle-exchange program.
Table 18.5 Red flags for HIV infection16 Of special importance is the finding that the most important biological risk factor for HIV
transmission is the presence of other active STIs in either partner. This includes chlamydia,
Persistent gonorrhoea, syphilis and genital herpes. Herpes is also likely to increase the risk of HIV
transmission during both homosexual and heterosexual intercourse, even in the presence of
Fever
condoms.20,21,22
Headache
Weight loss
Health professionals
Diarrhoea
Dry cough Care should be exercised whenever blood samples are taken or sharps have been used. Advise
Dyspnoea on exertion safe disposal of sharps and other disposables and appropriate sterilisation of material. Gloves
Visual disturbance should be worn for all invasive procedures. Management of needle-stick injuries and other at-risk
exposures is described in CHAPTER 123 . Blood donors need to be carefully screened.
Neurological
seizures
peripheral neuropathy
Community education
others
Educating the community in a non-emotional, responsible way about AIDS should be a priority.
Psychiatric While the personal, community and global benefits of effective AIDS education are generally
depression/mania acknowledged, the fear of addressing such a sensitive issue sometimes results in failure to
sleep disturbance act.23,24 AIDS education in schools in particular can be an important strategy. People with HIV
signs of dementia infection would be appropriate resource educators and the use of videos would be a most
appropriate medium for education.
Laboratory
Viral count >10 000 copies/mm When to refer25
Cell count 200–250/µL or less
Most patients with HIV disease need referral to a specialist or clinic that can manage the patient
expertly and sympathetically.

Prevention of HIV infection Referral should take place at the time of:

onset of a life-threatening opportunistic infection

Counselling the person at risk regarding ‘safer practices’ the need to initiate antiretroviral drug therapy
No effective vaccine has been developed. Modification of behaviour is the only valid strategy for
administration of prophylactic pentamidine therapy
prevention of HIV infection. Education programs to encourage sexual practices that reduce the
exchange of genital secretions (safe sex) may achieve risk reduction for sexually active serious psychological problems related to HIV-positive status
individuals. Condoms provide a barrier if used properly and consistently but may be too easily
 disease only in animals
Viruses and respiratory distress syndrome disease in humans infected by animals with no human-to-human spread
small clusters of human-to-human spread
Acute respiratory distress syndrome (ARDS) with its concomitant possible severe viral Page 180 wide-spread sustained community transmission around the world29
pneumonia can be caused by novel (new) coronaviruses, which are responsible for severe acute
respiratory syndrome (SARS) and Middle Eastern respiratory syndrome (MERS). Influenza virus Transmissibility and clinical severity
(e.g. avian and swine) can also cause the syndrome.
The two crucial features of a pandemic virus are its transmissibility and the clinical severity of
Coronaviruses (CoV) are a large family of viruses. Human CoV generally cause mild illness the disease. These determine the rate of spread and the impact.
such as the common cold. The novel CoV, which are one of several to infect humans, have four
subgroups designated α, β, δ and γ. It is the less common novel types that cause disease in Transmissibility is described by the R nought (R0), the basic reproduction number, which
humans, usually spread from person to person by miasma from uncovered coughing and determines the average number of people each new case is likely to infect in a non-immune
sneezing. population. For measles, R0 is usually 12–18 or higher.30 Clinical severity is reflected by the
case fatality rate (CFR), the percentage of reported cases that are fatal. Both these numbers
Severe ARS (SARS-CoV) was identified in China in 2002, but has since been diagnosed in many
change as our understanding of the virus and its impact increases. FIGURE 18.7 shows these
countries. The potential for severe pandemic was controlled through identification and isolation
characteristics for past pandemic viruses. It highlights important differences between H1N1
of infected patients. MERS-CoV, which was first identified in Saudi Arabia in 2012, ranged
‘Spanish flu’ and H1N1 ‘Swine flu’ where the former was more infectious, more severe and
from asymptomatic infection to ARDS. The clinical features of these conditions is presented in
resulted in higher levels of mortality than the latter. These different characteristics inform
CHAPTER 38 . A 3–7 day prodrome of fever, malaise, headache and myalgia can progress to
different management strategies for ‘mild’ and more ‘severe’ pandemics. The R0 for SARS-CoV
non-productive cough, dyspnoea and respiratory failure. The usual test is nucleic acid PCR tests
has ranged between 2–4.
on oropharyngeal and nasopharyngeal swabs ± sputum (if available). In 2020, the world
experienced the pandemic caused by a new coronavirus identified as SARS-CoV-2, which
causes the disease COVID-19.

Pandemics
A pandemic is an infectious outbreak, usually involving large numbers, which occurs across a
number of international borders. The declaration of a pandemic is made by the World Health
Organization. Pandemic viruses are novel viruses, sufficiently immunologically distinct from
circulating viruses that few if any people have any level of immunity.

In comparison, an epidemic is an outbreak of disease with a higher number of cases than

expected within a population, while endemic disease occurs at a relatively stable level.26

At the time of writing, May 2020, the world was experiencing the first coronavirus pandemic
from SARS-CoV-2. Globally, by mid July 2021, over 191 million people were infected and over
4.1 million had died, and numbers were still climbing.27

The zoonotic bridge

Novel viruses that create pandemics usually originate from animals and have crossed the
zoonotic bridge to humans, particularly in regions where high densities of people and animals
cohabit. Bats often host these zoonotic viruses, which can infect humans through an intermediary
host. In the 2019 SARS-CoV-2 pandemic, the intermediate host was thought to be pangolins.28
The stages of pandemic development evolve progressively:
FIGURE 18.7 Contribution of transmissibility and severity on population impact
of previous pandemics, with suggested position for the ongoing SARS-CoV-2
pandemic31
Source: Adapted from Australian Government. Australian Health Management Plan for Pandemic Influenza. Department of Health:
Commonwealth of Australia, 2019. Available from:
 https://www1.health.gov.au/internet/main/publishing.nsf/Content/519F9392797E2DDCCA257D47001B9948/$File/w-AHMPPI-
2019.PDF.
Stand down effects of disruption to usual quality patient care and
revise plans for future pandemics.
Waves within pandemics
Source: Adapted from the pandemic stages in Australian Health Management Plan for Pandemic Influenza. August 2019. Department of Health,
Waves, or large increases in cases, occur as new pockets of non-immune people are infected. An Commonwealth of Australia: 10.
example of this was the 1918 Spanish influenza due to an H1N1 influenza virus of avian origin.
An estimated 500 million, or one-third, of the world’s population was infected. Mortality was The impact of pandemics
estimated at 50 million. This pandemic had three waves over a year, from March 1918 to June
1919. The second wave was the most deadly. This varies depending on the following.

A systematic national approach Characteristics of the virus

Pandemic management requires a national top-down approach, i.e. national to state to local. State Transmissibility (R0)
and territories, however, make local decisions to accommodate local geographical differences in Clinical severity (CFR)
phases of the pandemic.31 These reflect the PPRR (Prevention Preparedness Response Recovery)
of disaster management systems (see CHAPTER 120 ). Page 182
Characteristics of the population
Aims of the Australian Government response to pandemics are to:31 Page 181
Any pre-existing immunity
minimise the number of people who become infected or unwell Factors increasing vulnerability, e.g. chronic disease
minimise the degree of morbidity and decrease mortality
reduce the health system burden, so provision of usual health care can continue Effectiveness of infection control and public health measures
help Australian families and communities reduce their own risk
Contact, droplet and aerosol infection control as appropriate
Social distancing, isolation and quarantine
Surveillance for new cases with rapid contact tracing to contain spread
Table 18.6 Stages of pandemic response planning for Australian general
practices26,31,32 Effectiveness of clinical management and prevention

Potential clinical treatments

National pandemic preparedness planning stages in Australia
Development of a vaccine
Stage Activities
Preparedness Review pandemic plan and resources available. Ongoing GP roles in pandemics
surveillance.
Response— Alert of a potential pandemic has been made. Monitor GP roles through the stages of the pandemic are articulated in the RACGP Pandemic Flu Kit
Standby communications on the emerging disease, ensure documents.29,32 During pandemics, general practices will be required to flexibly adapt their usual
practice and staff readiness to respond immediately and practice processes to contribute to the response while maintaining business continuity and well-
heighten surveillance for clinical cases. being of staff and self.
Response— Declaration of a pandemic is made, usually by the WHO. Key activities for GPs in pandemics include:29
Action—Initial Little is known about the virus or the clinical disease and
information is still being gathered. revision of roles and responsibilities of staff as the pandemic evolves
Response— Enough is known about the disease to respond more keeping up-to-date on reliable advice
Action— specifically to refine the response, including clinical infection prevention and control (IPC) depending on the virus, e.g. contact, droplet and
Targeted management and identifying those more vulnerable. airborne precautions
business continuity, including reorganisation of practice processes and patient flow; social
Response— Move back to business as usual, review and manage
 distancing; telehealth delivery; mass vaccination delivery; business viability
clinical management and comorbidities updates
Resources
psychological support for practice staff and patients, including physical and mental health,
psychosocial health and well-being, and potential financial effects Australasian Society for HIV, Viral Hepatitis and Sexual Health Medicine (ASHM). Patient fact
review of processes for home and residential care visits sheets. Available from: www.ashm.org.au.
workforce GP-led respiratory clinics
HIV drug interactions. Available from: www.hiv-druginteractions.org.

Key facts and checkpoints

References
The next pandemic may be evolving now. 1 Charles PGP. Infectious mononucleosis. Aus Fam Physician, 2003; 32(10): 755–8.

General practice is a crucial part of the front-line response.
Each pandemic is unique and requires a flexible response.
GP self-care is crucial.
2 Papadakis MA, McPhee SJ. Current Medical Diagnosis and Treatment (56th edn). New
York: Lange, 2017: 1522–5.
3 Fauci AS et al. Harrison’s Principles of Internal Medicine (17th edn). New York:
McGraw-Hill, 2008: 1106–9.

The next pandemic
The world’s population, urbanisation and international travel is increasing. There is increasing
contact between humans and animals. This creates an environment of increased risk of more
frequent pandemics in the future. General practice is a vital part of the health care response and
needs to be prepared.
4 Maeda E et al. Spectrum of Epstein–Barr virus related diseases: a pictorial review. Jpn J
Radiol, January 2009; 27(1): 4–19. [PMID19373526]
5 Rawlinson W, Scott G. Cytomegalovirus. Aust Fam Physician, 2003; 32(10): 789–93.
6 HIV data and statistics. World Health Organization, 2020. Available from:
https://www.who.int/teams/global-hiv-hepatitis-and-stis-programmes/data-use/hiv-data-
and-statistics, accessed February 2021.

7 Gupta RK et al. Evidence for HIV-1 cure after CCR5Δ32/Δ32 allogeneic haemopoietic
Patient education resources stem-cell transplantation 30 months post analytical treatment interruption: a case report.
The Lancet HIV, 2020: D01-10-1016/S2352-3018.
Hand-out sheets from Murtagh’s Patient Education 8th edition:
8 Baker D, Pell C, Donovan B. HIV infection as a chronic disease: optimising outcomes.
Glandular fever MedicineToday, February 2014; 15(2): 16–26.

Hepatitis B 9 Stewart GJ. The challenge: the clinical diagnosis of HIV. Med J Aust, 1993; 158: 31–4.

Hepatitis C 10 Kumar P, Clark M. Clinical Medicine (7th edn). London: Elsevier Saunders, 2009: 184.

Influenza 11 Pohl M. Managing HIV patients in general practice. Patient Management, 1989; June: 49–
61.
Malaria
12 McCoy R. Alarm bells. When to worry about your patient with HIV. Aust Fam Page 183
Pertussis Physician, 1997; 26: 803–9.
HIV infection and AIDS 13 US Centers for Disease Control and Prevention update on HIV/AIDS developments.
Available from: www.cdc.gov.
HIV post-exposure prophylaxis
14 Bradford D. Update on issues for HIV management. Aust Fam Physician, 1997; 26: 812–
 17. 28 Fan Y, Zhao K, Shi ZL, Zhou P. Bat coronaviruses in China. Viruses, 2019; 11(3): 210.

15 HIV infection [updated 2019]. In: Therapeutic Guidelines. Melbourne: Therapeutic
Guidelines Limited; 2019. www.tg.org.au, accessed January 2018.
16 Kidd M, McCoy R. Managing HIV/AIDS. Part 2—Treatment. Medical Observer, March
2002: 36–7.
17 Yazdanpanah Y et al. High rate of virologic success with raltegravir plus etravirine and
darunavir/ritonavir in treatment-experienced patients with multidrug-resistant virus: results
of the ANRS 139 TRIO trial. XVII International AIDS Conference (AIDS 2008). August
3–8, 2008. Mexico City. Abstract THAB0406.
18 Achhra AC et al. Efficacy and safety of contemporary dual-drug antiretroviral regimes as
first-line treatment or as a simplification strategy: a systematic review and meta-analysis.
Lancet HIV, 2016; 3: e351–e360.
19 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2018: 197–8.
20 Clinical and Translational Science Institute. Strategic Timing on Antiretroviral Treatment
(START). University of Minnesota. Available from:
https://clinicaltrials.gov/ct2/show/NCT00867048, accessed February 2018.
29 RACGP. Managing pandemic influenza in general practice. Melbourne: RACGP, 2017.
Available from: www.racgp.org.au/running-a-practice/practice-management/managing-
emergencies-and-pandemics/managing-pandemics/managing-pandemic-influenza-in-
general-practic-1.
30 van Boven M, Kretzschmar M, Wallinga J, O’Neill PD, Wichmann O, Hahne S.
Estimation of measles vaccine efficacy and critical vaccination coverage in a highly
vaccinated population. J R Soc Interface, 2010; 7(52): 1537–44.
31 Australian Government. Australian Health Management Plan for Pandemic Influenza.
Department of Health: Commonwealth of Australia, 2019. Available from:
https://www1.health.gov.au/internet/main/publishing.nsf/Content/519F9392797E2DDCC
A257D47001B9948/$File/w-AHMPPI-2019.PDF.
32 RACGP. Implementation Guide.
Melbourne: RACGP, 2017. Available from:
https://www.racgp.org.au/getattachment/16c5cd62-3758-4ccc-b688-
87dfa5f058a3/implementation-guide.pdf.aspx.

21 Nikolopoulos GK et al. Pre-exposure prophylaxis for HIV: evidence and perspectives.

Curr Pharm Des, 29 March 2017. Available from:
www.readbyqxmd.com/read/28356043/pre-exposure-prophylaxis-for-hiv-evidence-and-
perspectives, accessed February 2018.

22 HIV/AIDS: ‘Let’s talk about it’. ASHM, 2005. Available from: www.ashm.org.au.

23 World Health Organization report. AIDS Prevention through Health Promotion. Geneva:
WHO, 1991: 203.

24 Rogers G. How to treat: HIV care and prevention—Part 1. Australian Doctor, 2006; 3
February: 25–32.

25 Bradford DL. Acquired immune deficiency syndrome. In: MIMS Disease Index (2nd edn).
Sydney: IMS Publishing, 1996: 1–5.

26 Burns P, Sutton, P, Leggat P. Complex events. In: Fitzgerald G, Tarrant M, Aitken P,

Fredriksen M, eds. Disaster Health Management: A Primer for Students and Practitioners.
New York/London: Routledge, 2016: 282–96.

27 COVID-19 Dashboard by the Centre for Systems Science and Engineering (CssE),
Coronavirus Resource Center. USA: John Hopkins University & Medicine. 26 February
2021. Available at: https://coronavirus.jhu.edu/map.html, accessed February 2021.
 Page 184
Tuberculosis
Tuberculosis (TB), caused by Mycobacterium tuberculosis, still has a worldwide distribution
with a very high prevalence in Asian countries where 60–80% of children below the age of 14
years are affected.1 This has special implication in Australia, where large numbers of Asian
19 Baffling bacterial infections migrants are settling. The WHO estimates that one-third of the world’s population is infected by
the tubercle bacillus, with 10 million new cases in 2019. It remains a deadly disease, with about
1.5 million people worldwide dying of TB every year and 10 million new cases a year.

Clinical features
In its beginning the malady is easier to cure but difficult to detect, but later it becomes easy to TB can be a mimic of other diseases and a high level of suspicion is necessary to consider the
detect but difficult to cure. diagnosis, especially if there are only extrapulmonary manifestations. There may be no
symptoms or signs, even in advanced disease, and may be detected by mass screening. Ideally
NICCOLÒ MACHIAVELLI (1469–1527), ON TUBERCULOSIS patients should be referred early for specialist management.

Bacterial infections can present diagnostic brain-teasers, and a high index of suspicion is needed Respiratory symptoms
to pinpoint the diagnosis. Many are rarely encountered, thus making diagnosis more difficult yet
demanding vigilance and clinical flexibility. Cough

The list includes: Sputum: initially mucoid, later purulent

tuberculosis Haemoptysis

infective endocarditis Dyspnoea (esp. with complications

syphilis Pleuritic pain

septicaemia General clinical features (usually insidious)

the zoonoses (e.g. brucellosis, Lyme disease) Anorexia
clostridial infections: tetanus, gas gangrene, puerperal infection, botulism, pseudomembranous Fatigue
colitis (C. difficile)
Weight loss
hidden suppuration: abscess, osteomyelitis
Fever (low grade)
mycoplasma infections: atypical pneumonia
Night sweats
Chlamydia infections: psittacosis, non-specific arthritis, pelvic inflammatory disease,
trachoma, atypical pneumonia Physical examination
legionnaire disease May be no respiratory signs or may be signs of fibrosis, consolidation or cavitation (amphoric
breathing)
Hansen disease (see CHAPTER 129 )
Finger clubbing
Chlamydia and rickettsial organisms have been confirmed as being small bacterial organisms.
High-risk people/situations
Newborn and infants

Adults over 60 years

Patients with HIV/AIDS

Chronic disease, e.g. diabetes

Crowded or unsanitary living conditions

People affected by alcohol and drugs

Immigrants and refugees from endemic countries (especially Indian subcontinent, Papua New
Guinea, South-East Asia, Sub Sahara and South Africa)

DxT malaise + cough + weight loss ± fever/night sweats + haemoptysis →

pulmonary TB

Primary infection
Page 185
The primary infection usually involves the lungs. Transmission is by droplet infection.
The focus is usually subpleural in the upper to mid zones and is almost always accompanied by
lymph node involvement.

Erythema nodosum may accompany the primary infection (see FIG. 19.1 ). Primary TB is
symptomless in most cases, although there may be a vague, ‘not feeling well’ illness associated
with a cough. In most people this pulmonary focus heals but leaves some surviving tubercle
bacilli, even if it becomes calcified (the Ghon focus).

FIGURE 19.1 Classic erythema nodosum involving the legs of a patient with
pulmonary tuberculosis

Progressive primary tuberculosis

If the immune response is inadequate, progressive primary TB develops, with constitutional and
pulmonary symptoms. Rarely, haematogenous spread can occur to the lungs (‘miliary
tuberculosis’), to the pleural space (tuberculosis pleural effusion) or to extrapulmonary sites such
as the meninges and bone.

Latent TB infection (LTBI)

LTBI is the presence of infection without evidence of active disease (contained by the immune
system) and inability to transmit the infection. However, reactivation may occur if the host’s
immune defences are impaired (occurs in about 10%). LTBI is very common in children in and
from developing countries. Consider HIV in these people. The tuberculin skin test is primarily
intended to identify these people with a view to prophylaxis therapy. The standard preferred
regimen is isoniazid (10 mg/kg up to 300 mg (o) daily for 6–9 months). This decision should be
made by a consultant.

Post-primary or adult-type pulmonary TB

Most cases of TB in adults are due to reactivation of disease some years later and not to re-
infection. Symptoms of active TB include persistent cough, sputum production, haemoptysis,
fever, sweating, malaise, weight loss and anorexia. The factors causing this include poor social
living conditions with malnutrition, diabetes and other factors lowering natural immunity, such
as immunosuppressant drugs, corticosteroids, lymphoma and HIV infection (later stage). The
chest X-ray is usually abnormal—classic apical disease with infiltration and cavitation with
fibrotic changes.

Practice tip
TB! – Think HIV.

Reactivated pulmonary TB

This usually presents with constitutional symptoms of poor health and night sweats, and a cough
that is initially dry but may become productive and be bloodstained (see CHAPTER 32 ).
Sometimes the infection will be asymptomatic. The natural history of TB infection is illustrated
in FIGURE 19.2 .

FIGURE 19.2 Natural history of TB infection

*TST = tuberculin skin test

**IGRA = interferon gamma release assay
Source: Based on WHO algorithm and Dr Grant Jenkin (personal communication)
Extrapulmonary TB
The main sites of extrapulmonary disease (in order of frequency in Australia) are the lymph
nodes (the commonest, especially in young adults and children), genitourinary tract (kidney,
epididymis, Fallopian tubes), pleura and pericardium, the skeletal system (arthritis and
osteomyelitis with cold abscess formation), CNS (meningitis and tuberculomas), the eye
(choroiditis, iridocyclitis), the skin (lupus vulgaris), the adrenal glands (Addison disease—see
CHAPTER 14 ) and the GIT (ileocaecal area and peritoneum). This is increasing, especially in
HIV patients.
These sites are illustrated in FIGURE 19.3 . without treatment.
FIGURE 19.3 Pulmonary and extrapulmonary distribution of tuberculosis: the
primary infection starts in the lung and then spreads throughout the body,
especially to the lymph nodes
Miliary tuberculosis
Page 186
This disorder follows diffuse dissemination of tubercle bacilli via the bloodstream,
especially in those with chronic disease and immunosuppression. It can occur within 3 years of
the primary infection or much later because of reactivation.
The symptoms, which are insidious, include weight loss, fever and malaise. Choroidal tubercules
are pathognomonic. The classic chest X-ray is multiple 1–2 mm nodules in lung fields. It is fatal
TB in children2
Children living in close contact with people with smear-positive pulmonary TB are highly
vulnerable to acquiring the primary infection. A possible complication is miliary TB. The
lifetime risk of TB disease in children with LTBI is in the order of 5–15%.3 Children with LTBI
should be considered for prophylaxis with a course of isoniazid.
Primary disease is the more common form in young children. Reactivation is more common in
adolescents.
Diagnosis4
A high index of suspicion is critical for the diagnosis of TB. Tests include:
Mantoux tuberculin test (TST) (a guide only)
chest X-ray; CT scan if doubtful
sputum or bronchial excretion or gastric aspirates for stain (acid-fast bacilli) and Page 187
culture (takes about 6–8 weeks but important); ideally requires 3 specimens over 3
days including one early morning
immunochromatographic finger-prick test (new and promising)
interferon gamma release assay (IGRA)
QuantiFERON–TB Gold blood test
NAAT/PCR test—less sensitive than culture
biopsies on lesions/lymph nodes may be necessary; the hallmark is caseating granulomata
fibre-optic bronchoscopy to obtain sputum may be necessary
consider HIV studies
Tuberculin (Mantoux) testing and BCG vaccination
A tuberculin (Mantoux) test should be performed prior to BCG vaccination in all individuals
over 6 months of age. (It is read at 48–72 hours.) It is not a good test to diagnose TB.
If area of induration: Page 188
<5 mm—negative (note: may be negative in presence of very active pulmonary infection)
5–10 mm—typical of past BCG vaccination
>5 mm—significant in immunocompromised, close contacts and HIV infection
>10 mm—positive = tuberculosis infection (active or inactive)
>15 mm—highly significant for ‘normal’ people
The BCG vaccination should be given if the reaction is <5 mm induration. Do not give it for a
reaction >5 mm.
BCG vaccination is recommended for:
Aboriginal and Torres Strait Islander neonates in regions of high incidence
neonates born to patients with leprosy or family history of leprosy
children <5 years travelling for long periods to countries of high TB prevalence
BCG vaccination should be considered for:
neonates in household with immigrants or visitors recently arrived from countries of high
prevalence (e.g. South-East Asia) (note: tuberculin test not necessary for neonates <14 days)
children and adolescents <16 years with continued exposure to active TB patient and where
isoniazid therapy is contraindicated
others at increased risk (and where value of BCG vaccine uncertain), such as health care
workers, travellers >5 years with significant exposure
BCG vaccination is contraindicated for:
tuberculin reactions >5 mm
immunocompromised or malignancies involving bone marrow lymphatics (can disseminate
infection)
high-risk HIV infection
significant fever or intercurrent illness
generalised skin diseases, including keloid tendency
pregnancy
previous infection
Areas of concern
Drug resistance
This includes the increasing emergence of forms resistant to two or more front-line drugs—
multidrug-resistant TB (MDR-TB). TB is much more aggressive in the immunocompromised
and if not adequately treated can be fatal in 2 months, especially if they have MDR-TB.
Treatment compliance is a huge issue and so the directly observed therapy (DOT) strategy for
isoniazid in children is a WHO priority, as is ‘DOTS plus’ to control MDR-TB. TB is a more
pressing problem in children requiring early treatment.
Management and treatment5,6
Referral to experienced specialist care is appropriate. The current antimicrobial treatment is the
standard short-course therapy with four antituberculous drugs initially (rifampicin + isoniazid +
pyrazinamide + ethambutol) daily for 2 months, then rifampicin + isoniazid daily for a further 4
months. The usual precautions with adverse reactions are required. Pyridoxine 25 mg daily is
recommended for adults taking isoniazid. A 3-times-weekly regimen is also an option if DOT is
employed. Corticosteroids may be prescribed. Notify appropriate jurisdictional public health
authorities. Promote healthy lifestyle advice.
Syphilis
Although syphilis is uncommon, it is increasing in the general population and in HIV patients. It
is extremely common in certain Indigenous groups and is frequently acquired from sexual
contacts overseas.5,7
It presents either as a primary lesion or through the chance finding of positive syphilis serology
(reagin tests, treponemal antibody tests, PCR). Family physicians should be alert to the various
manifestations of secondary syphilis, which can cause difficulties in diagnosis. Congenital
syphilis is rare where there is general serological screening of antenatal patients. Early syphilis—
less than 2 years duration and based on positive serology—includes primary, secondary and
latent syphilis.
Clinical features7,8
Primary syphilis
The primary lesion or chancre usually develops at the point of inoculation after an incubation
period averaging 21 days. The chancre is typically firm, painless, punched out and clean (see
FIG 19.4 ). The adjacent lymph nodes are discretely enlarged, firm and non-suppurating. Any
anorectal ulcer or sore should be considered as syphilis until proved otherwise.
FIGURE 19.4 Chancre of primary syphilis in adolescent. This painless,
innocuous-looking lesion was associated with a firm, enlarged linguinal lymph
node. Dark field examination revealed many motile treponema.
Untreated, early clinical syphilis usually resolves spontaneously within 4 weeks, leading to latent
disease, which may proceed to late destructive lesions.
Secondary syphilis
The interval between the appearance of the primary chancre and the onset of secondary Page 189
manifestations varies from 6 to 12 weeks after infection. Constitutional symptoms, including
fever, headache, malaise and general aches and pains, may precede or accompany the signs of
secondary syphilis.
The most common feature of the secondary stage of infection is a rash, which is present in about
80% of cases. The rash is typically a symmetrical, generalised, coppery-red maculopapular
eruption on the face, trunk, palms and soles and is neither itchy nor tender. It can resemble any
skin disease except those characterised by vesicles.
Latent syphilis
Positive serology in a patient without symptoms or signs of disease is referred to as latent
syphilis and is the commonest presentation of syphilis in Australia today. Possibly because of the
widespread use of antibiotics, the infection often proceeds to the latent stage without a
recognised primary or secondary stage.
Late (tertiary) syphilis
Tertiary manifestation of syphilis (follows >2 years latency), which is very rare, may be ‘benign’
with development of gummas (granulomatous lesions) in almost any organ, or more serious with
cardiovascular or CNS involvement. Benign gummatous disease is rare but cardiovascular
disease and neurosyphilis occasionally occur. Careful management and follow-up of patients
with early or latent disease is essential to prevent late sequelae. It can only be detected by blood
tests.
Neurosyphilis includes:
meningovascular (e.g. cranial nerve palsies)
tabes dorsalis (e.g. sensory ataxia, lightning pains, Charcot joints)
general paresis of the insane (e.g. dementia, psychosis)
Think of syphilis
Syphilis should not be overlooked as a cause of oral, ocular or anorectal lesions. The diagnosis of
syphilis depends on a detailed history, careful clinical examination and specific examinations.
Underlying these approaches is the need to think of the possibility of syphilis with concurrent
STIs.
Syphilis and HIV infection7
HIV and syphilis are commonly associated. In patients with AIDS and syphilis, standard
regimens for syphilis are not always curative. Seronegative syphilis has been reported in patients
with HIV infection. Lymphadenopathy in a patient with HIV infection may be due to coexisting
secondary syphilis.
Diagnosis
Dark field examination8
Spirochaetes can be demonstrated by microscopic examination of smears from early lesions
using dark field techniques and provide an immediate diagnosis in symptomatic syphilis. The
direct fluorescent antibody techniques (FTAABS) can be used on this smear.
Serology
Serological tests provide indirect evidence of infection, and the diagnosis of asymptomatic
syphilis relies heavily on these tests. The main types of tests are:
 reagin tests (VDRL and RPR)—not specific for syphilis but useful for screening Temporary pacemaker electrode catheters

treponemal tests (TPPA, TPI, EIA, FTAABS)—specific tests, with the latter being sensitive Note: Only about 50% of patients with infective endocarditis have previously known heart
and widely used disease.8 Consider the possibility of IV drug use.

PCR (blood or CSF)—very sensitive

Responsible organisms10
Treatment Streptococcus viridans (50% of cases) most susceptible to penicillin
It is based on parenteral benzylpenicillin or procaine penicillin. Refer to CHAPTER 109 . Streptococcus bovis

Infective endocarditis Enterococcus faecalis

Infective endocarditis, although uncommon, has high morbidity and mortality. It can be Page 190 Staphylococcus aureus (causes 50% of acute form)
a difficult problem to diagnose but must be considered in the differential diagnosis of fever,
Candida albicans/Aspergillus (IV drug users)
especially in patients with a history of cardiac valvular disorders. It is caused by microbial
infection of the cardiac valves or endocardium. Previously referred to as bacterial endocarditis, Staphylococcus epidermidis
the term infective endocarditis is preferred because not all the infecting organisms are bacteria.
Coxiella burnetii (Q fever)
It may present as a fulminating or acute infection but more commonly runs an insidious course
and is referred to as subacute (bacterial) endocarditis. Its incidence is increasing, probably due to HACEK group (Gram –ve bacilli) (5–10% of cases)
the increasing number of elderly people with degenerative valve disease, more invasive
procedures, IV drug use and increased cardiac catheterisation.9 Presentations

DxT FUO + cardiac murmur + embolism → endocarditis Acute endocarditis

Subacute endocarditis

Risk factors Prosthetic endocarditis

Past history of endocarditis Infective endocarditis without cardiac murmur is frequently seen in IV drug users who develop
infection on the tricuspid valve.
Rheumatically abnormal valves, especially Aboriginal and Torres Strait Islander people
Warning signs for development of endocarditis
Congenitally abnormal valves
Change in character of heart murmur
Mitral valve prolapse
Development of a new murmur
Calcified aortic valve
Unexplained fever and cardiac murmur = infective endocarditis (until proved otherwise)
Congenital cardiac defects (e.g. VSD, PDA)
A febrile illness developing after instrumentation (e.g. urethral dilatation) or minor and major
Prosthetic valves, shunts, conduits surgical procedures (e.g. dental extraction, tonsillectomy, abortion)
IV drug use
The ‘classic tetrad’ of clinical features:9 signs of infection, signs of heart disease,
Central venous catheters signs of embolism, immunological phenomena.
There is a significant high mortality and morbidity from infective endocarditis, which is often FIGURE 19.5 Infective endocarditis: possible clinical features
related to a delay in diagnosis.
The patients are often elderly, appear pale and ill, with intermittent fever, and complain of vague
aches and pains. The full clinical presentation takes time to develop. A febrile illness of 1 to 2
weeks duration is a common presentation.
A golden rule
Investigation
Culture the blood of every patient who has a fever and a heart murmur.
This includes:

FBE and ESR: ESR ↑, anaemia and leukocytosis

Clinical features
urine: proteinuria and microscopic haematuria
The classic clinical features are summarised in FIGURE 19.5 .
blood culture: positive in about 75%8 (at least 3 sets of samples—aerobic and anaerobic
culture)

echocardiography—to visualise vegetations (TOE more sensitive than TTE)

chest X-ray

ECG

Consider kidney function tests and C-reactive protein.

Management
The patient should be referred because optimal management requires close cooperation between
physician, microbiologist and cardiac surgeon.

Any underlying infection should be treated (e.g. drainage of dental abscess). Page 191
Bactericidal antibiotics are chosen on the basis of the results of the blood culture and
antibiotic sensitivities. Four blood cultures should be sent to the laboratory within the first hour
of admission and treatment should seldom be delayed longer than 24 hours.

Antimicrobial treatment10,11

There are two important principles of management:

treatment must be given IV for at least 2 weeks

treatment is prolonged—usually 4–6 weeks

Consultation with an infectious diseases physician or clinical microbiologist should be sought.

Once cultures have been taken, prompt empirical antimicrobial treatment should be commenced,
esp. in fulminating infection suspected to be endocarditis.
 Benzylpenicillin + gentamicin + di(flu)cloxacillin are recommended milk

Vancomycin needs to be considered if hospital acquired, MRSA suspected or prosthetic Leptospirosis Leptospira Various Infected urine Fever, myalgia,
cardiac valve interrogans or domestic contaminating severe headache
pomona animals cuts or sores macular rash
Prevention Brucellosis Brucella Cattle Contamination Fever (undulant),
abortus of cuts or sweats, myalgia,
Value of prophylaxis is unclear. sores by headache,
animal tissues lymphadenopathy
Low-risk patients (no prosthetic valves or previous attack of endocarditis): prophylaxis not
Unpasteurised
recommended.
milk
High-risk patients (prosthetic valves, all acquired valvular disease, past history, most congenital
heart disease, mitral valve prolapse with regurgitation) having invasive dental procedures, oral or Lyme Borrelia Marsupials Tick bites Fever, myalgia,
upper respiratory tract surgery, GIT or genitourinary surgery (consult an infectious disease disease burgdorferi (probable) arthritis, backach
physician); example: doughnut-shaped
rash
amoxicillin 2 g (child: 50 mg/kg up to 2 g) orally, 1 hr beforehand (if not on long-term Psittacosis Chlamydia Birds: Inhaled dust Fever, myalgia,
penicillin) psittaci parrots, headache, dry
pigeons, cough
or
ducks, etc.
(amoxi)ampicillin 2 g (child: 50 mg/kg up to 2g) IV just before procedure commences or IM Bovine Mycobacterium Cattle Unpasteurised Fever, sweats,
30 minutes before: if having a general anaesthetic; if hypersensitive to penicillin: clindamycin tuberculosis bovis milk weight loss, coug
or cephalexin (as for human
pulmonary TB)
Zoonoses Listeriosis Listeria Various Unpasteurised Mild febrile illness
monocytogenes wild and milk or cheese (in most)
Zoonoses are those diseases and infections that are naturally transmitted between Page 192 domestic Contaminated Meningoencepha
vertebrate animals and humans (see TABLE 19.1 ). Zoonotic diseases (which are not restricted to animals vegetables in those susceptib
farming communities) can present as a mild illness but are prolonged in duration and can have Person to (neonates,
debilitating sequelae.12 There is a long list of diseases, which vary from country to country, and pregnancy, elderl
person
includes plague, rabies, scrub typhus, Lyme disease, tularaemia, hydatid disease, orf, anthrax, etc.)
erysipeloid, listeriosis, campylobacteriosis and ornithosis (psittacosis).

Diagnosis13
Table 19.1 Major zoonoses in Australia
If a zoonosis is overlooked in the differential diagnosis, many will remain undiagnosed and
Mode of Main presenting untreated.
Zoonosis Organism(s) Animal host
transmission features
Q fever Coxiella Various Inhaled dust Fever, rigors, Practice tip
burnetii wild and Animal myalgia, headache,
domestic contact dry cough
Think of a zoonosis in patients presenting with a flu-like illness and features of
animals
Unpasteurised atypical pneumonia.
 lymphadenopathy
Fever and sweats (flu-like illness) hepatomegaly
Any patient with undiagnosed fever should be questioned about exposure to animals, recent spinal tenderness
travel both in and out of Australia, animal bites, cat scratches, consumption of raw milk,
mosquito and tick bites, pets and occupation. splenomegaly (if severe)

Rash Complications such as epididymo-orchitis, osteomyelitis and endocarditis can occur. Localised
infections in sites such as bones, joints, lungs, CSF, testes and cardiac valves are possible but
Consider rickettsial illness such as leptospirosis, Q fever, Lyme disease uncommon.

Cough or atypical pneumonia Symptoms of chronic brucellosis are virtually indistinguishable from chronic fatigue syndrome
and can present with FUO.
Consider Q fever, psittacosis, bovine TB
DxT malaise + headache + undulant fever → brucellosis
Arthralgia/arthritis

Consider Lyme-like disease, Ross River fever

Diagnosis
Meat workers
Blood cultures if febrile (positive in 50% during acute phase)10,14
Consider Q fever, leptospirosis, orf, anthrax
Brucella agglutination test (rising titre)—acute and convalescent (3–4 weeks) samples
Papular/pustular lesions Brucella PCR testing—sensitive and rapid
Consider orf, anthrax (black)
Treatment2
Brucellosis Adults: doxycycline 100 mg (o) bd for 6 weeks + rifampicin 600 mg (o) daily for 6 weeks
or
Brucellosis (undulant fever, Malta fever) has diminished in prevalence since the Page 193
gentamicin 4–6 mg/kg/day IV statim then daily for 2 weeks (monitor)
campaign to eradicate it from cattle. Entry is mainly by the mouth, or abraded or cut skin.
Children: cotrimoxazole + rifampicin
Clinical features (acute brucellosis) or
gentamicin
Incubation period 1–3 weeks
Relapses do occur (10%)—prolonged therapy
Insidious onset: malaise, headache, weakness
Prevention and control
A prolonged febrile illness
Involves eradication of brucellosis in cattle, care handling infected animals and pasteurisation of
The classic fever pattern is undulant (refer to CHAPTER 42 ) milk. No vaccine is currently available for use in humans.
Possible:
Q fever
arthralgia
Q fever is a zoonosis due to Coxiella burnetii. It is the most common abattoir-associated
infection in Australia and can also occur in farmers and hunters. It usually resolves
spontaneously within 2 weeks. Rash is not a major feature but can occur if the infection persists
without treatment. It is transmitted by inhaled dust, animals (wild or domestic) and unpasteurised
milk.
Clinical features
Leptospirosis follows contamination of abraded or cut skin or mucous membranes with Page 194
Leptospira-infected urine of many animals including pigs, cattle, horses, rats and dogs.
In Australia it is almost exclusively an occupational infection12 of farmers (especially with
flooded farmland in tropics) and workers in the meat industry. There is a risk to dairy farmers
splashed with urine during milking, especially if through open cuts or sores. Early diagnosis is
important to prevent it passing into the immune phase.

Incubation period 1–3 weeks Clinical features

Sudden onset fever, rigors and myalgia Incubation period 3–20 days (average 10)

Dry cough (may be pneumonia in 20%)14 Fever, chills, myalgia

Petechial rash (if persisting infection) Severe headache

± Abdominal pain Chest pain (possibly haemoptysis)

Persistent infection may cause pneumonia or endocarditis so patients with valvular disease are at Macular rash
risk of endocarditis (culture is negative). It is a rare cause of hepatitis. The acute illness may
resolve spontaneously but a chronic relapsing disease may follow. Untreated chronic infection is Light-sensitive conjunctivitis (marked suffusion)
usually fatal.
Some may develop the immune phase (after an asymptomatic period of 1–3 days) with aseptic
meningitis or jaundice and nephritis (icterohaemorrhagic fever, Weil syndrome) with a
DxT fever + headache + prostration → Q fever
significant mortality.

DxT abrupt fever + headache + conjunctivitis → leptospirosis

Diagnosis
Serodiagnosis is by antibody levels in acute phase and 2–3 weeks later (fourfold increase)
Diagnosis
Coxiella burnetii PCR is effective
High or rising titre of antibodies: can be cultured
2
Treatment
PCR
Doxycycline 100 mg (o) bd for 14 days
Treatment5
For endocarditis or chronic disease: prolonged course of doxycycline plus clindamycin or
rifampicin Mild cases may not require treatment (adult doses shown).

Children: >8 same antibiotics according to weight; <8 cotrimoxazole (instead of doxycycline) Doxycycline 100 mg (o) bd for 7 days
or
Prevention
benzylpenicillin 1200 mg IV, 6 hourly for 7 days
The disease can be prevented in abattoir workers by using Q fever vaccine. or

ceftriaxone 1 g IV daily for 7 days

Leptospirosis
 Lyme and lyme-like disease Minimal chest signs

Splenomegaly (sometimes)
Lyme disease (known as Lyme borreliosis) was first described in 1975 and named after the town
Lyme in Connecticut (US). It is widespread in the US and is now appearing in other countries
Mortality can be as high as 20% if untreated.
but is not known to be endemic in Australia. Sporadic cases are seen in visitors or travellers. The
illness encountered here and in other countries is described as debilitating symptom complexes
attributed to ticks. Traditional Lyme disease, which is highly infective, is caused by a Diagnosis
spirochaete, Borrelia burgdorferi, and transmitted by Ixodes ticks, so that people living and
Serology—rising antibody and PCR
working in the bush are susceptible. It has been reported in deer farmers. Lyme disease presents
in three stages. If suspected, refer to an infectious disease physician for expert advice. Chest X-ray
The pathognomic sign is erythema migrans—a characteristic pathognomonic rash, usually a
doughnut-shaped, well-defined rash about 6 cm in diameter at the bite site. Treatment2

Stage 1: erythema migrans, flu-like illness Adults: doxycycline 200 mg (o) or clarithromycin 250–500 mg, 12 hourly for 7 days (o)

Stage 2: neurological problems such as limb weakness and cardiac problems Listeriosis13
Stage 3: arthritis Listeriosis is caused by Listeria monocytogenes, a bacterium widespread in nature that Page 195
can contaminate food and has been found in many fresh (e.g. fruit and vegetables) and processed
Diagnosis foods (e.g. dairy products, especially unpasteurised milk, soft cheese, processed meats and
smoked seafood). Its significance lies in the mortality rate in high-risk groups such as pregnant
Clinical pattern especially rash of erythema migrans + serology and PCR women, the immunocompromised, frail aged and very young, but especially neonates and
fetuses. Babies may be stillborn or aborted.
Treatment
Clinical features
Remove tick
It may be subclinical but possible presentations include:
A typical regimen for adults is doxycycline 100 mg bd for 21 days or amoxicillin
influenza-like illness (usually mild)
Psittacosis (‘bird fancier’s disease’)
food poisoning, gastroenteritis (atypical)
Most patients are bird fanciers. Psittacosis accounts for 1–5% of hospital admissions for
pneumonia. The disease may follow a low-grade course over several months but can have a meningitis, especially infants, elderly
dramatically acute presentation of flu-like illness. It is indistinguishable from other atypical
septicaemia (in susceptible)
pneumonias except for history of contact with birds.
pneumonia (in susceptible)
Clinical features
Diagnosis
Incubation period 1–2 weeks
PCR
Fever, malaise, myalgia
Microscopy, culture or isolation of organism from infected site or blood
Headache
Serological tests available
Cough (usually dry)
Treatment Refer immediately to expert centre

Amoxicillin 1 g (o) 8 hourly or IV for 10–14 days5,14 Intubate and ventilate if necessary

Other zoonoses Gangrene/gas gangrene5

Mosquito-transmitted infections: Murray Valley encephalitis, Ross River virus, Barmah Forest Gangrene (necrotising soft tissue infection) can involve skin and subcutaneous fat, fascia and
virus muscle.

Infections from bites and scratches: cat-scratch disorder, rat bite fever Gas gangrene (clostridial myonecrosis) is caused by entry of one of several clostridia organisms,
for example, Clostridium perfringens, into devitalised tissue, such as exists following severe
Hydatid disease, orf, milker’s nodules trauma to a leg.

Toxoplasmosis, histoplasmosis, hookworm Clinical features

Sudden onset of pain and swelling in the contaminated wound
Clostridial infections
Brownish serous exudate
Clostridia are spore-forming, gram-positive bacilli widely present in dust, soil and vegetation and
as normal flora in the GI tracts of mammals. Gas in the tissue on palpation or X-ray

Prostration and systemic toxicity

Tetanus
Circulatory failure (‘shock’)
This sometimes misdiagnosed bacterial infection (Clostridium tetani) can appear from one day to
several months after the injury, which may have been forgotten. A total of 10–20% of patients
Management
with tetanus have no identifiable wound of entry.15 Neonatal tetanus can occur from
contamination of the umbilical stump. It is a significant cause of postpartum maternal mortality Refer immediately to surgical centre for debridement
worldwide.
Start benzylpenicillin 2.4 g IV, 4 hourly + clindamycin
Clinical features
Hyperbaric oxygen if available
Prodrome: fever, malaise, headache

Trismus (patient cannot open mouth)

Risus sardonicus (a grin-like effect from hypertonic facial muscles)
Opisthotonos (arched trunk with hyperextended neck)
Spasms, precipitated by minimal stimuli
Differential diagnosis: phenothiazine toxicity, strychnine poisoning, rabies, dental abscess
Botulism5
Botulism is food poisoning caused by the neurotoxin of Clostridium botulinum. It can Page 196
be infant botulism, of wound origin or food borne. From 12 to 36 hours after ingesting the toxin
from canned, smoked or vacuum-packed food (e.g. home-canned vegetables or meat) visual
problems such as diplopia suddenly appear. Suspect botulism if cranial nerve weakness with
normal sensation. General muscle paralysis and prostration quickly develop. Refer immediately
for antitoxin and intensive care.

Management
Pneumonia
Give tetanus antitoxin and human tetanus immunoglobin (see CHAPTER 6 ) Surprisingly the initial presentation of pneumonia can be misleading, especially when the patient
presents with constitutional symptoms such as fever, malaise and headache rather than
respiratory symptoms. A cough, although usually present, can be relatively insignificant in the Patients can become very prostrate with complications—treat with azithromycin (o or IV) or
total clinical picture. This problem applies particularly to atypical pneumonia but can occur with erythromycin (IV or o) plus (if very severe) add ciprofloxacin or rifampicin for 14–21 days
bacterial pneumonia, especially lobar pneumonia (refer to CHAPTER 32 ).
Chlamydia psittaci (psittacosis)
The atypical pneumonias5,16 Treat with doxycycline 100 mg bd for 14 days
Refer to CHAPTER 32 . Coxiella burnetii (see Q fever section)

Clinical features
Acknowledgment
Fever, malaise
Part of this text, on the clinical manifestations of syphilis, is reproduced from the Handbook on
Headache Sexually Transmitted Diseases7 (copyright Commonwealth of Australia, reproduced by
permission).
Minimal respiratory symptoms, non-productive cough

Signs of consolidation absent Resources

Chest X-ray (diffuse infiltration) incompatible with chest signs
World Health Organization. Guidelines for National Tuberculosis Programmes on the
Management of Tuberculosis in Children (2nd edn). Geneva: WHO, 2014. Available from:
DxT ‘flu’ + headache + dry cough → atypical pneumonia https://www.who.int/tb/publications/childtb_guidelines/en/, accessed March 2020.

National Heart Foundation of New Zealand. Guidelines for prophylaxis of infective endocarditis
associated with dental and other medical interventions, 2008.
Serology tests and treatment
Royal Children’s Hospital Melbourne. Guidelines for prophylaxis against infection in asplenic
Blood tests and PCR tests are available for all the following causative organisms: children. Melbourne: RCH, 2010.
Mycoplasma pneumoniae (the commonest)
References
Adolescents and young adults: treat with doxycycline (first line) 200 mg statim then 100 mg
daily for 14 days 1 Kumar PJ, Clark ML. Clinical Medicine (7th edn). London: Elsevier Saunders, 2009: 863.
or
roxithromycin 300 mg (o) daily for 14 days 2 World Health Organization. Guidance for National Tuberculosis Programmes on the
Management of Tuberculosis in Children (2nd edn). Geneva: WHO, 2014. Available from:
Legionella pneumophila (legionnaire disease) https://www.who.int/tb/publications/childtb_guidelines/en/, accessed February 2021.
Related to cooling systems in large buildings 3 Thompson K et al. Paediatric Handbook (8th edn). Oxford: Wiley-Blackwell, 2009: 131–
2.
Incubation 2–10 days
4 National Institute for Health Care Excellence (NICE). Tuberculosis: clinical diagnosis and
Diagnostic criteria include: prodromal-like illness; a dry cough, influenza-like illness,
management of tuberculosis, and measures for its prevention and control (CG117).
confusion or diarrhoea; lymphopenia with marked leukocytosis; hyponatraemia; PCR test and
London: NICE, 2011.
urinary antigen assay
5 Tuberculosis [published 2019]. In: Therapeutic Guidelines [digital]. Melbourne:
Treatment for mild disease: azithromycin 500 mg (o) daily for 5 days or doxycycline 100 mg
Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed April 2020.
(o) 12 hourly for 10–14 days
 Soto-Martinez M, Ranganathan S. Tuberculosis (Part 2). Medical Observer, 11 March Page 198
6 2011: 25–7.

7 NHMRC. Handbook on Sexually Transmitted Diseases. Canberra: Department of

Community Services & Health, 1990: 23–9.

8 Hart G. Syphilis. In: MIMS Disease Index (2nd edn). Sydney: IMS Publishing, 1996: 493– 20 Infections of the central nervous
6.
system
9 Oakley C. Infective endocarditis. Med Int, 1986; 21: 872–8.

10 Speed B. Endocarditis, infective. In: MIMS Disease Index (2nd edn). Sydney: Page 197
IMS Publishing, 1996: 167–9.

11 Endocarditis: prophylaxis of infection [published 2019]. In: Therapeutic Guidelines Bacterial meningitis is a medical emergency especially meningococcus meningitis which can
[digital]. Melbourne: Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed cause rapid deterioration of the patient. Consider it if a sudden onset of the classical triad
April 2020. [fever, nuchal rigidity, altered conscious state] is accompanied by high fever and the signs of a
very sick child. Meningococcal meningitis may be accompanied by a petechial rash and septic
12 Benn R. Australian zoonoses. Current Therapeutics, 1990; July: 31–40. shock (Waterhouse–Friderichsen syndrome).

13 NHMRC Statement. Listeria, advice to medical practitioners. Canberra: NHMRC, 1992.

ANISHA BAHRA & KATIA CIKUREL, NEUROLOGY, 19991
14 Scott J. Zoonoses. Current Therapeutics, 1995; April: 42–5.
Infections of the central nervous system cover general conditions such as meningitis and
15 Fauci AS et al. Harrison’s Principles of Internal Medicine (17th edn). New York: encephalitis, and specific organisms such as syphilis and polio. This section is highlighted
McGraw-Hill Medical, 2008: 898. because the conditions that are difficult to diagnose can have morbid outcomes, especially if the
conditions are misdiagnosed. They are representative of classic ‘not-to-be-missed’ conditions.
16 Zhu F. Australian Anti-infection Handbook (2nd edn). Sydney: Palmer Higgs Books
Online, 2010. Key symptoms suggestive of cerebral infection are headache, seizures and altered conscious
level.

Meningitis
Meningitis is inflammation of the meninges (pia and arachnoid) and the cerebrospinal fluid
(CSF).

The classic triad is:

headache

photophobia

neck stiffness

Other symptoms include malaise, vomiting, fever and drowsiness.

Causes (organisms)1,2
Bacteria
Streptococcus pneumoniae, Haemophilus influenzae (especially children), Neisseria
meningitides (the big three)
Listeria monocytogenes, Mycobacterium tuberculosis, Group B Streptococcus, Strep.
agalactiae (common in newborn), Staphylococcus spp., Gram –ve bacilli, such as Escherichia
coli, Borrelia burgdorferi, Treponema pallidum
Viruses
Enteroviruses (Coxsackie, echovirus, poliovirus); mumps; herpes simplex HSV type 1, 2 or 6;
varicella zoster virus; EBV; HIV (primary infection)
Bacterial meningitis2
Bacterial meningitis is basically a childhood infection. Neonates and children aged 6–12 months
are at greatest risk. Meningococcal disease can take the form of either meningitis or septicaemia
(meningococcaemia) or both. Most cases begin as septicaemia, usually via the nasopharynx. The
onset is usually sudden (see CHAPTER 89 ).
Clinical features (typical)
Infancy
Fever, pallor, vomiting ± altered conscious and mental state

Lethargy
Fungi
Increasing irritability with drowsiness
Cryptococcus neoformans or C. gattii
Refusal to feed, indifference to mother
Histoplasma capsulatum
Neck stiffness (not always present)
Investigations
Cold extremities (a reliable sign)
Lumbar puncture (see TABLE 20.1 )
May be bulging fontanelle
CT scan
Kernig sign (see FIG. 20.1 ): unreliable
Blood culture—all patients with suspected meningitis
Brudzinski sign (see FIG. 20.2 ): more reliable sign of meningeal irritation
CSF microculture/PCR (PCR useful even if antibiotics given)
Opisthotonos (see FIG. 20.3 ): rare
Specific serology, e.g. HIV, EBV

Note: If significant delay with these investigations, do not withhold treatment.

Table 20.1 CSF findings in meningitis

Bacterial (pyogenic) Tuberculosis Viral (aseptic)

CSF appearance Cloudy/pus Opalescent Usually clear
CSF pressure ↑↑↑ ↑ ↑ or N ↑ or N
Predominant cell Neutrophils Lymphocytes Lymphocytes
Cell count/mm3 100–1000 + 50–1000 10–1000
Glucose ↓↓↓ ↓↓ Normal
FIGURE 20.1 Kernig sign: pain in hamstrings with inability to straighten leg on
passive knee extension with hip flexed at 90°

FIGURE 20.3 Opisthotonos caused by advanced meningitis

FIGURE 20.2 Brudzinski sign: neck flexion causes involuntary flexion of hip Children over 3 years, adolescents, adults
and knee Meningeal irritation more obvious (e.g. headache, fever, vomiting, neck stiffness)
Page 199

Later: delirium, altered conscious state

Note: Antibiotics may mask symptoms. Suspect meningitis if fever >3 days in reasonably well ceftriaxone 2 g (child >1 month 50 mg/kg up to 2 g) IV or IM 12 hourly for 5 days
child on antibiotics.3
Note: Penicillin dose guide for suspected meningitis in child: <1 year 300 mg, 1–9 years 600 mg,
Fulminating 10+ years 1.2 g.

Dramatic sudden-onset shock, purpura (does not blanch on pressure) ± coma Specific organisms—streptococcus pneumoniae: benzylpenicillin or cephalosporin; Group B
streptococcus: benzylpenicillin; H influenzae: cephalosporin.
Usually due to meningococcal septicaemia, also H. influenzae type B, Streptococcus
pneumoniae, Listeria monocytogenes

Note: Septic shock may ensue without signs of meningitis.

Treatment (suspected meningitis)4

First: oxygen + IV access and consult

Take blood for culture (within 30 minutes of assessment)—ideally prior to hospitalisation

For child give bolus of 10–20 mL/kg of N saline with added bolus up to total 60 ml/kg if signs
of hypoperfusion

Admit to hospital for lumbar puncture (preliminary CT scan to assess safety of LP in adults)

Dexamethasone 0.15 mg/kg up to 10 mg IV (start at same time as or 15 minutes before

antibiotics—controversial but shown to improve outcome)5

Ceftriaxone 2 g (child >1 month: 50 mg/kg up to 2 g) IV statim then 12 hourly for 4 Page 200
days
FIGURE 20.4 Meningococcaemia with typical early purpuric rash in a 2-year-
or
cefotaxime 2 g (child: 50 mg/kg up to 2 g) IV old child

6 hourly for 3–5 days (note that IM injection is painful) Prevention

Note: IV preferable but IM or interosseous better than nothing. Meningococcal vaccines—B and ACWY given separately

Antibiotics of proven effectiveness are cefotaxime, ceftriaxone, meropenem and penicillin. Risk
of resistance with S. pneumoniae. The choice of antibiotic is directed by the knowledge of the
organism and known susceptibility.
Treatment (meningococcaemia—all ages)
Treatment is extremely urgent once suspected (e.g. petechial or purpuric rash on trunk and limbs)
(see FIG. 20.4 ). It should be given before reaching hospital. Empirical treatment is:
benzylpenicillin 2.4 g (child: 60 mg/kg IV up to 2.4 g) statim (continue for 5 days)
if IV access not possible give IM or (especially if hypersensitive to penicillin)
Viral meningitis1,6
This is basically a childhood infection. The most common causes are human herpes virus 6 (the
cause of roseola infantum) and enteroviruses (Coxsackie and echovirus).
Most cases are benign and self-limiting, but the clinical presentation can mimic bacterial
meningitis, although there are fewer obvious signs of meningeal irritation. Lumbar puncture is
important for diagnosis and also PCR for enterovirus. If positive, it can allow early cessation of
antibiotics if commenced empirically.2 Treatment which is symptomatic includes rehydration
and analgesics. Aciclovir is given for herpes meningitis. The immunocompromised require
special management.

Practice tip
Very cold hands? Think meningitis.
Encephalitis 1,6
Encephalitis is inflammation of the brain parenchyma. It is mainly caused by viruses, although
other organisms including some bacteria, Mycoplasma, Rickettsia and Histoplasma can cause
encephalitis. Suspect it when a viral prodrome is followed by irrational behaviour, altered
conscious state and possibly cranial nerve lesions.
Practice tip
Consider the possibility of (non-infective) autoimmune encephalitis.
Clinical features
These can vary from mild to severe.
Constitutional: fever (not inevitable), malaise, myalgia
Meningeal features: headache, photophobia, neck stiffness
Cerebral dysfunction: altered consciousness—confusion, drowsiness, personality changes,
irrational behaviour, seizures, coma
Focal neurological deficit
Causes (viral organisms)
Herpes simplex type 1 or 2, enteroviruses, mumps, CMV, EBV, HIV, measles, influenza,
arboviruses (e.g. Japanese B, West Nile, Murray Valley encephalitis, Ross River)
Consider cerebral malaria in the differential diagnosis
There are three forms of mediated viral encephalitis: direct, delayed (latent) and Page 201
immune mediated (postinfectious encephalomyelitis).
Toxoplasma gondii
A protozoal infection seen in immunocompromised patients, especially HIV. Refer for specialist
advice.
Investigations
Lumbar puncture: CSF (usually aseptic meningitis)
CSF PCR for viral studies, esp. HSV, toxoplasma
CT scan—often shows cerebral oedema
Gadolinium-enhanced MRI
EEG—characteristic waves
Treatment
Organise hospitalisation where treatment will be supportive. Suspected herpes simplex
encephalitis should be treated with IV aciclovir immediately.
Note: Meningoencephalitis is meningitis plus some parenchymal involvement of brain substance.
Autoimmune encephalitis
This is a recently identified group of neuropsychiatric disorders seen typically in young people.7
There is a prodrome of fever and headache followed by days or weeks of psychiatric behavioural
problems with bizarre symptoms and movements. It may be related to a paraneoplastic
manifestation, e.g. ovarian cancer. Diagnosis is confirmed by blood and CSF antibody testing
(anti-NMDA receptor). Specialist referral for diagnosis and specific immunotherapy is
appropriate.
Brain abscess and subdural empyema4,8
A brain (cerebral) abscess is a focal area of infection in the cerebrum or cerebellum. It presents
as a space-occupying intracerebral lesion. Suspect in any patient with a raised intracranial
pressure. The infection can reach the brain by local spread or via the bloodstream; for example,
endocarditis or bronchiectasis. There may be no clue to a focus of infection elsewhere but it can
follow ear, sinus, dental, periodontal or other infection and also a skull fracture. The organisms
are polymicrobial, especially microaerophilic cocci and anaerobic bacteria in the non-
immunosuppressed. In the immunosuppressed, Toxoplasma, Nocardia sp. and fungi.
Clinical features
Raised intracranial pressure
Headache
Nausea and vomiting
 Altered conscious state Back trauma with haematoma

Papilloedema Post-subdural or epidural anaesthetic block

Other One-third is spontaneous

Focal neurological signs such as hemiplegia, dysphasia, ataxia Investigations

Seizures (30%) Blood culture

Fever (may be absent) MRI scan to localise abscess and spinal cord pressure

Signs of sepsis elsewhere, e.g. teeth, endocarditis Management

Investigations Urgent neurosurgical referral. Empirical therapy while awaiting culture results may include
di/flucloxacillin IV + gentamicin IV or vancomycin IV.
MRI (if available) or CT scan

FBE, ESR/CRP, blood culture Prion-transmitted diseases10,11

Note: Lumbar puncture is contraindicated. Prions are proteinaceous infectious particles devoid of nucleic acid that can present Page 202
with a wide spectrum of neurological presentations. The feature is transmissible spongiform
Consider endocarditis encephalopathy (TSE), with Creutzfeldt–Jakob disease being the classic example. Other
examples of TSE forms affecting humans are variant CJD, kuru (New Guinea) and fatal familial
Management insomnia.
Management is urgent neurosurgical referral. Aspiration or biopsy is essential to guide
antimicrobial treatment, which may (empirically) include metronidazole IV and a cephalosporin, Creutzfeldt–Jakob disease
e.g. ceftriaxone IV. Nocardiosis is treated with other antibiotics.
There are three distinct forms of CJD: sporadic (80–85%), familial (15%) and iatrogenic (1%).
The annual incidence is one per million people. Usual transmission is from contaminated human
Spinal subdural or epidural abscess9 tissue (e.g. corneal graft), cadaver pituitary human gonadotrophin or eating contaminated beef.
There is no specific treatment for the disease.
These uncommon focal infections can be extremely difficult to diagnose so an index of suspicion
is required to consider such an abscess. The usual organism is Staphylococcus aureus.
DxT fatigue + psychiatric symptoms + myoclonus → CJD
Clinical features6
Back pain (increasing) ± radiculopathy Clinical features
Percussion tenderness over spine Progressive dementia (starts with personality change and memory loss—eventual loss of
speech)
Evolving neurological deficit, e.g. gradual leg weakness and sensory loss ± fever (may be
absent) Myoclonus/muscle spasms
Causes Fatigue and somnolence
Associated infection: furuncle, decubitus ulcer, adjacent osteomyelitis, discitis, other Variable neurological features (e.g. ataxia, chorea)
Diagnosis Non-viral causes of flaccid paralysis12,13

MRI: high signal intensity in thalami Borrelia burgdorferi (Lyme disease), Mycoplasma, diphtheria, botulism, transverse myelitis,
syphilis
CSF: positive 14-3-3 protein immunoassay

EEG Syphilis
Brain biopsy after death (ultimate confirmation) Neurosyphilis can present at any stage of syphilis. The main syphilitic syndromes affecting the
CNS are:
Management Asymptomatic syphilis: present during the interval between the secondary and tertiary stages
of syphilis.
Supportive: no proven specific treatment
Meningitis including acute basal meningitis and meningovascular syphilis. The latter can
Poliomyelitis11 present with a cerebrovascular accident.

Polio is a highly contagious enterovirus (picornavirus) transmitted through the faeco-oral route Tabes dorsalis causing meningoradiculitis with degeneration of the parenchyma of the spinal
and is a specific spinal cord anterior horn cell enterovirus. It remains endemic in the tropics. columns of the spinal cord and involvement of the pupils. Features include lightning pains,
Most infections (95%) are asymptomatic. Note: Myelitis means inflammation of the spinal cord. Charcot joints, ataxia and neurotrophic ulcers, Argyll Robertson pupils.

Clinical features General paralysis of the insane with marked personality change, dementia, dysarthria and
seizures.
Flu-like syndrome, with fever and sore throat, then

‘Pre-paralytic’ stage: nausea and vomiting, headache, stiff neck (meningeal irritation)
Paralytic (0.1%): LMN lesion (flaccid paralysis)—may include spinal polio especially of
lower limbs and/or bulbar polio ± respiratory failure. No sensory loss.
There are 2 levels of polio: minor (recovery in a few days) and major.
Diagnosis
Viral studies of throat and faeces—culture and PCR
Serology
CSF: leucocytosis, esp. lymphocytes
Management
Symptomatic paralytic patients should be referred to hospital. Prevention is through vaccination.
Post-polio syndrome
Many years after the primary infection (usually 20–40 years) this may present with new muscle
weakness and pain as dysfunction of surviving motor neurones develops. Refer to specialist unit.
Other infections that can involve the CNS
Tuberculosis
Neurological TB may include tuberculosis meningitis, tuberculoma (presenting as a cerebral
abscess), spinal arachnoiditis and spinal involvement (Pott disease). Treatment with multiple
antimicrobial agents is usually complex and prolonged.
Human immunodeficiency virus
HIV involvement may be direct with primary infection causing encephalopathy Page 203
(‘AIDS’ dementia), myelopathy or acute atypical meningitis in addition to secondary
opportunistic infection. The latter include CNS toxoplasmosis, cytomegalovirus, herpes simplex
myelitis, varicella zoster and others (see CHAPTER 19 ).
Helminthic infections
Worm infestations that can (rarely) cause intracerebral lesions through the formation of cysts or
granulomas include cysticercosis (tapeworms, e.g. Taenia solium), Echinococcus (hydatid) and
Schistosoma.
Other infections may present with seizures. These include:
 Botulism (see CHAPTER 19 ) 9 Beers MD et al. The Merck Manual (18th edn). Whitehouse Station: Merck Research
Laboratories, 2006: 1850–1.
Tetanus (see CHAPTER 19 )
10 Beers MD et al. The Merck Manual (18th edn). Whitehouse Station: Merck Research
Rabies (see CHAPTER 129 ) Laboratories, 2006: 1914–5.
Hansen disease (leprosy) (see CHAPTER 129 ) 11 Beers MD et al. The Merck Manual (18th edn). Whitehouse Station: Merck Research
Laboratories, 2006: 1853.
Patient education resource 12 Bahra A, Cikurel K. Neurology. London: Mosby, 1999: 204–5.

Hand-out sheet from Murtagh’s Patient Education 8th edition: 13 Longmore M et al. Oxford Handbook of Clinical Medicine. Oxford: Oxford University
Press, 2007: 420.
Bacterial meningitis and meningococcus

Resource
Central nervous system infections [published 2019]. In: Therapeutric Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed January 2020.

References
1 Bahra A, Cikurel K. Neurology. London: Mosby, 1999: 195–7.

2 Thomson K, Tey D, Marks M. Paediatric Handbook (8th edn). Oxford: Wiley-Blackwell,

2009: 407–13.

3 Hewsen P et al. Clinical markers of serious illness in young infants: a multicentre follow-
up study. Journal of Paediatrics and Child Health, 2000; 36: 221–5.

4 Central nervous system infections [published 2019]. In: Therapeutic Guidelines.

Melbourne: Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed January
2018.

5 Brower MC et al. Corticosteroids for acute bacterial meningitis. Cochrane Database Syst
Rev, 2013; (6): CD004405.

6 Venkatesan A et al. Case definitions, diagnostic algorithms and priorities in encephalitis:

consensus statement of the international encephalitis consortium. Clin Infect Dis, 2013;
57(8): 1114–28.

7 Lancaster E. The diagnosis and treatment of autoimmune encephalitis. J Clin Neurol,

2016; 12(1): 1–13.

8 Helweg-Larsen J et al. Pyogenic brain abscess, a 15 year survey. BMC Infect Dis, 2012;
12: 332.
 Page 204 hydroxyapatite
Pus Example: staphylococcal
septic arthritis
Inflammation of joints Symmetrical Example: rheumatoid arthritis
21 Connective tissue disease and the Asymmetrical Example:
spondyloarthropathies
systemic vasculitides Non-inflammatory joint Typical Primary osteoarthritis (e.g. in
disorder hands)
Atypical Example: post-trauma,
haemochromatosis
Joint and soft tissue Connective tissue SLE
In its more aggravated forms diffuse scleroderma is one of the most terrible of all human ills. inflammation disorders
Like Tithonus to ‘wither slowly’ and like him to be ‘beaten down and marred and wasted’, until
one is literally a mummy, encased in an ever shrinking, slow contracting skin of steel, is a fate Scleroderma
not pictured in any tragedy. Polymyositis/dermatomyositis
Polyarteritis nodosa
SIR WILLIAM OSLER 1898
Vasculitides Giant cell arteritis
The inflammatory connective tissue diseases and the related vasculitides are groups of disorders Polymyalgia rheumatica
that are difficult to classify because their causation is generally unknown. They all cause joint
and soft tissue inflammation and multiple other possible manifestations that create diagnostic Non-articular (soft tissue) Generalised Examples: fibrositis,
difficulties. inflammation fibromyalgia, polymyalgia
Localised Examples: plantar fasciitis,
epicondylitis
Autoimmune diseases 1

Source: Dr Stephen Hall, personal communication

These are disorders in which the body’s immune system damages its own specific organs or
systems. The connective tissue diseases are a classic subgroup of autoimmune disease.
Vasculitis is, in fact, a condition common to the connective tissue disorders and to the Page 205
Rheumatoid arthritis is the most common autoimmune disease. Organ-specific autoimmune
so-called vasculitides (see TABLE 21.2 ).
diseases include diabetes type 1, Hashimoto thyroiditis, pernicious anaemia, IgA
glomerulonephritis, Graves disease, autoimmune hepatitis and myasthenia gravis.
Table 21.2 List of connective tissue disorders and systemic
It is convenient to consider a working classification of joint pain (see TABLE 21.1 ) that includes
apparent joint pain (arthralgia), as some of the inflammatory disorders cause problems in the soft vasculitides
tissues around joints (e.g. giant cell arteritis and hydroxyapatite crystallopathy of the tendons
around the shoulder joint). Connective tissue disorders
Rheumatoid arthritis
Table 21.1 A classification of rheumatological pain SLE
Systemic sclerosis/limited scleroderma
Hyperacute (red hot) Crystals Urate: gout
Polymyositis/dermatomyositis
joints
Mixed connective tissue disease
Calcium pyrophosphate;
 Sjögren syndrome
Raynaud phenomenon (including Raynaud syndrome)
Systemic vasculitides
Large vessel predominantly:
giant cell arteritis/temporal arteritis/polymyalgia rheumatica
Takayasu arteritis
Behçet syndrome
Medium vessel (mainly affects visceral vessels):
polyarteritis nodosa
Kawasaki disease
Buerger disease
Small vessel (mainly):
immunoglobulin A vasculitis (Henoch–Schönlein purpura)
hypersensitivity vasculitis
essential cryoglobulinaemia
Antineutrophil cytoplasmic antibody (ANCA) associated:
granulomatosis with polyangiitis (Wegener granulomatosis)
eosinophilic granulomatosis polyangiitis (Churg–Strauss vasculitis) FIGURE 21.1 The classic connective tissue disorders
microscopic polyangiitis
Mixed connective tissue disorder includes features of all three disorders and is sometimes
referred to as ‘overlap’ syndrome. Other related disorders classified as CTDs include sicca
Source: Reproduced with permission from Dr Stephen Hall, personal communication.
syndromes such as Sjögren syndrome and Raynaud syndrome. Rheumatoid arthritis and the
spondyloarthropathies are also immune mediated.
A major concern to all is that the diagnosis of these conditions is elusive and often delayed.
Common features include:
Inflammatory connective tissue disease fatigue

The term ‘connective tissue disease’ (CTD) is a generic label applied to a group of disorders arthralgia or arthritis
characterised by systemic inflammation, presumed initiated by an autoimmune response to an
multisystem involvement
autoantigen and perpetuated by unknown factors (both genetic and environmental).2 If
serological markers such as positive ANA and ENA are present they are termed seropositive vasculitis
CTDs. The vasculitides are a variety of CTD.
immunological abnormalities
The CTDs comprise three classic conditions, namely systemic lupus erythematosus (SLE),
systemic sclerosis (scleroderma) and the inflammatory muscular conditions sicca (dry skin and mucous membranes)
polymyositis/dermatomyositis (see FIG. 21.1 ).1
Raynaud phenomenon
Investigations in connective tissue disease
The diagnosis is based on the clinical assessment. The rapidly growing list of investigations,
particularly those of autoantibodies, can be confusing. Baseline investigations to consider are
FBE, ESR, C-reactive protein and rheumatoid factor. The rheumatoid factor can be positive in a
great range of disorders, including rheumatoid arthritis, SLE, systemic sclerosis, Sjögren
syndrome, chronic liver disease and various viral (e.g. hepatitis), bacterial (e.g. tuberculosis) and
parasitic (e.g. malaria) infections. There is usually a low titre, except in rheumatoid arthritis. X-
rays and HLA-B27 tests are not recommended.
TABLE 21.3 summarises the majority of autoantibodies that can be tested. The antinuclear
antibody (ANA) test is a generic term for autoantibodies to several different cellular antigens. It
is very sensitive for SLE, but not absolutely specific (false positives occur with viral arthritis and
others, e.g. Sjögren). It is especially useful in the young female presenting with fatigue, small
joint arthralgia and dermatological features of SLE. Page 206
Lupus anticoagulants Present in 5–10% of SLE
1gM × 1gG aPL
The more specific antibodies for SLE, namely to double-stranded DNA (dsDNA) and extractable
nuclear antigens (ENA), should only be ordered if there is a significantly positive ANA.
Antiphospholipid antibody syndrome
This syndrome may occur with SLE or in isolation and is responsible for recurrent arterial and/or
venous thromboembolism, recurrent spontaneous abortions or thrombocytopenia in the presence
of antiphospholipid antibodies but without features of SLE. Livedo reticularis, skin ulcers and
neuropsychiatric disturbances have also been noted. If suspected, commence aspirin 150–300 mg
(o) daily and refer to a consultant, especially during pregnancy.

Systemic lupus erythematosus

Table 21.3 Autoantibodies in connective tissue disease2
SLE (lupus), which is the commonest of the connective tissue disorders, is described as the
‘great pretender’.3 It is a multisystem autoimmune disorder with a wide variety of clinical
Antinuclear antibody (ANA) High sensitivity 95%, low specificity for SLE features that are due to vasculitis (see FIG. 21.2 ). Arthritis is the commonest feature of SLE
Anti-dsDNA High sensitivity and specificity for SLE (60%): (90% of cases). Milder manifestations outnumber more severe forms.
found in rheumatoid arthritis
Antibodies to extractable
nuclear antigens (ENA)
Smith (Sm) Highly specific for SLE
U1 RNP Common in mixed connective tissue disease,
SLE
Ro (SSA) Common in Sjögren syndrome and SLE
La (SSB) Common in Sjögren syndrome, SLE (15%)
Scl-70 (antitopoisomerase) Common in 20–30% of patients with
scleroderma
Jo1 Common in 30% of patients with polymyositis
Anticentromere lc High sensitivity and specificity for CREST
syndrome
Antineutrophil cytoplasm High sensitivity and specificity for Wegener
(ANCA) granulomatosis
Antiphospholipids Diagnostic in antiphospholipid syndrome
Anticardiolipin
Anti-β2-GP1 antibodies
 Fever, malaise, tiredness common

Multiple drug allergies, e.g. sulfonamides

Problems with oral contraceptive pill and pregnancy

Course of remission and flares

DxT polyarthritis + fatigue + skin lesions → SLE

Classification criteria
(SLE = four or more of these 11 criteria)

Malar (butterfly) rash

Discoid rash

Photosensitivity

Arthritis (symmetric non-erosive arthritis in ≥2 peripheral joints)

Oral ulcers (usually painless)

Serositis (pleurisy or pericarditis)

Kidney features (proteinuria or cellular casts)

Neurological features (intractable headache, seizures or psychosis)

Haematological features (haemolytic anaemia, leucopenia, lymphopenia or thrombocytopenia)

Immunological features (positive anti-dsDNA, antiphospholipid antibodies, anticardiolipin or

anti-Sm tests and false-positive syphilis serology)
FIGURE 21.2 Clinical features of SLE
Positive antinuclear antibody (ANA) test
Page 207

Clinical features4 Note: Drugs that can cause a lupus-like syndrome are discussed in CHAPTER 25 .

Prevalence about 1 in 1000 of population Diagnosis

Mainly affects women in ‘high oestrogen’ period (90% of cases) ESR/CRP—elevated in proportion to disease activity

Peak onset between 15 and 45 years ANA test—positive in 95% (perform first) (key test) but poor specificity
 dsDNA antibodies—90% specific for SLE but present in only 60% (key test) thrombotic episodes.

ENA antibodies, especially Sm—highly specific Prognosis

Rheumatoid factor—positive in 50% The course of SLE is usually chronic, relapsing and unpredictable.
LE cell test—inefficient and not used
Systemic sclerosis (scleroderma)
The diagnosis cannot be made on blood tests alone. Supportive clinical evidence is necessary.
This can present as a polyarthritis affecting the fingers in 25% of patients, especially in the early
stages. Soft tissue swelling produces a ‘sausage finger’ pattern. Scleroderma mainly affects the
For suspected SLE, the recommended approach is to perform an ANA test. If positive, skin with fibrotic thickening. It presents with Raynaud phenomenon in over 85% of patients (see
then order dsDNA and ENA antibodies. FIG. 21.3 ).

Management5
Appropriate explanation, support and reassurance, use of sunscreens (refer to CHAPTER 113 )

Refer to consultant rheumatologist for shared care in a multidisciplinary team: urgent if

evidence of severe organ damage

Treatment2
Based on severity and organ involved.

Mild: NSAIDs (for arthralgia)

Moderate (especially skin, joint serosa involved): low-dose antimalarials (e.g.

hydroxychloroquine up to 6 mg/kg once daily) (e.g. 400 mg (o) daily for 3 months, then
200 mg daily long term) Page 208

Rule: treat early and avoid long-term and unnecessary steroid use.

Severe: corticosteroids are the mainstay (e.g. prednisolone initially 25–60 mg (o) daily then
7.5–15 mg (o) daily); immunosuppressive steroid-sparing drugs (e.g. azathioprine,
methotrexate with folic acid, bDMARDs (e.g. rituximab, belimumab) may be used for severe
arthralgia and IV or oral cyclophosphamide for organ damage

Avoid drugs in those in clinical remission and with normal complement levels.

Avoid excessive sunlight.

Other treatments, such as plasma exchange and immunosuppressive regimens, are available
for severe disease.

Keep in mind antiphospholipid antibody syndrome, especially with recurrent fetal loss and
 FIGURE 21.3 Clinical features of scleroderma

There are three clinical variants:

1 limited cutaneous disease, e.g. morphea

2 cutaneous with limited organ involvement (CREST)

3 diffuse systemic disease (systemic sclerosis)

Clinical features2,6
Female to male ratio = 3:1

A progressive disease of multiple organs

Raynaud phenomenon

Stiffness and tightness of fingers and other skin areas (see FIG. 21.4 )
FIGURE 21.4 Scleroderma showing stiff, taut skin of fingers
‘Bird-like’ facies (mouth puckered)
DxT finger discomfort + arthralgia + GORD (± skin tightness) →
Dysphagia and diarrhoea (malabsorption)
scleroderma
Oesophageal dysmotility

Respiratory symptoms: pulmonary fibrosis Diagnosis2,6

Cardiac symptoms: vasculopathy, pericarditis, pulmonary arterial hypertension, etc. ESR may be raised

Look for tight skin on chest (Roman breastplate) Normocytic normochromic anaemia may be present

ANA test—up to 90% positive (relatively specific)

Rheumatoid factor—positive in 30%

Anticentromere antibodies—specific (positive in 90% with limited disease and 5% with

diffuse)

Antitopoisomerase I (anti-Scl-70) antibody is specific but only positive in 20–30%

Skin biopsy—increase in dermal collagen

Page 209

Management
Refer to consultant or specialised unit for shared and multidisciplinary care
 Empathic explanation, patient education Female to male ratio = 2:1

Analgesics and NSAIDs for pain Muscle weakness and wasting proximal limb muscles

Avoid vasospasm (no smoking, beta blockers, ergotamine); calcium-channel blockers such as Main complaint is weakness
nifedipine may help Raynaud
Muscle pain and tenderness in about 50%
Monitor blood pressure
Arthralgia or arthritis in about 50% (resembles distribution of rheumatoid arthritis)
Treat malabsorption if present; skin emollients
Dysphagia in about 50% due to oesophageal involvement
D-penicillamine can help if there is significant systemic or cutaneous involvement7
Raynaud phenomenon
Localised scleroderma Consider associated malignancy: lung and ovary
Morphea—plaques of erythema with violaceous periphery, feels hard; mainly on trunk DxT weakness + joint and muscle pain + violaceous facial rash →
dermatomyositis
Linear—may be ‘en coup de sabre’ (a sabre stroke)

CREST syndrome The rash

Clinical features The distinctive rash shows features of photosensitivity. There is heliotrope (violet) discolouration
of the eyelids (see FIG. 21.5 ), forehead and cheeks, and possible erythema resembling sunburn
Calcinosis and peri-orbital oedema. A classic sign is a macular rash over the upper chest, back and
shoulders. There is a characteristic rash on the hands, especially the fingers and nail folds. The
Raynaud phenomenon knees and elbows are commonly involved.

Oesophageal dysmotility

Sclerodactyly

Telangiectasia

Anticentromere antibody (invariably positive)

Polymyositis and dermatomyositis

Polymyositis is an uncommon systemic disorder with inflammation of skin and muscle whose
main feature is symmetrical muscle weakness and wasting involving the proximal muscles of the
shoulder and pelvic girdles.

Clinical features
Any age group

Peak incidence 40–60 years

FIGURE 21.5 Heliotrope discolouration of eyelids in dermatomyositis
Differential diagnosis: statin-induced necrotising myositis (↑ CK levels). Biopsies—skin and muscle

Page 210 EMG studies—show characteristic pattern

Treatment includes corticosteroids, hydroxychloroquine and cytotoxic drugs. Early referral is

appropriate. Malignancy surveillance is important due to an increased risk of common cancers.

Sjögren syndrome
The underdiagnosed syndrome of dry eyes (keratoconjunctivitis sicca) in the absence of
rheumatoid arthritis or any other autoimmune disease is known as primary Sjögren syndrome
(SS). There is lymphoid infiltration of the exocrine glands:

primary SS—limited or multisystem

secondary SS—occurs in association with other CTDs including rheumatoid arthritis (accounts
for 50%) or systemic sclerosis

Clinical features
Fatigue

Sicca (xerostomia, dry eyes, dry vagina)

Difficulty swallowing food

Increased dental caries; denture dysfunction

Salivary gland enlargement; reduced salivation

Xerotrachea → chronic dry cough; hoarseness

Dyspareunia

Arthralgia ± non-erosive arthritis

Although considered benign, it can transform into non-Hodgkin lymphoma (approx. 1 in 44

cases).

DxT dry eyes + dry mouth + arthritis → Sjögren syndrome

FIGURE 21.6 Heliotrope discolouration of eyelids in dermatomyositis

Diagnosis
Diagnosis
Muscle enzyme studies (serum creatine kinase and aldolase)
Autoantibody tests—positive ANA(ENA), Ro (SSA), La (ss-B)
Antibody associations, e.g. anti-Jo1
Elevated ESR, +ve RA factor, possibly anaemia
 Schirmer tear test (measures conjunctival dryness)
Management
Referral to rheumatologist
Treatment is symptomatic for dry eyes, mouth and vagina; arthralgia
NSAIDs, hydroxychloroquine or steroids for arthritis
Raynaud phenomenon 2 rheumatica (PR), giant cell arteritis (GCA), Takayasu arteritis, Behçet syndrome, Churg–Strauss
(Refer also to CHAPTER 53 .)
It is classified as either primary (without associated disease) or secondary (when associated with
any CTD).
Patients with primary Raynaud may progress to a CTD but the likelihood is low (5–15%) and the
delay to diagnosis is long (average of 10 years).2 The more severe the Raynaud, the more likely
it is to progress to systemic disease.
Raynaud is a clinical syndrome of episodic arteriolar vasospasm usually involving the fingers
and toes (one or two at a time). It may also involve the nose, ear or nipple.
The vasculitides2
The vasculitides or vasculitis syndromes are a heterogeneous group of disorders involving
inflammation and necrosis of blood vessels, the clinical effects and classification depending on
the size of the vessels involved (see TABLE 21.2 ). They are a variety of CTD.
Small vessel vasculitis is the common type encountered in practice. Medium vessel vasculitis
includes polyarteritis nodosa and large vessel vasculitis includes giant cell arteritis. Page 211
Symptoms suggestive of vasculitis include systemic (malaise, fever, weight loss, arthralgia), skin
lesions (e.g. purpura, ulcers, infarction), respiratory (wheeze, cough, dyspnoea), ENT (epistaxis,
sinusitis, nasal crusting), chest pain (angina), kidney (haematuria, proteinuria, CKF) and
neurological (various, e.g. sensorimotor).
Small vessel vasculitis
This is associated with many important disorders, such as rheumatoid arthritis, SLE, bacterial
endocarditis, Henoch–Schönlein purpura and hepatitis B. Skin lesions are usually associated with
these disorders and the most common presentation is painless, palpable purpura, such as occurs
with Henoch–Schönlein purpura.
Practice tip
Consider vasculitis in any unidentified multisystem disorder.
Rarer but deadly causes
The major vasculitides called systemic vasculitides are polyarteritis nodosa (PN), polymyalgia
vasculitis and Wegener granulomatosis (WG). Unfortunately, many patients die or become
terminally ill before the diagnosis is suspected.
Practice tip
If a serious ANCA-associated disease is suspected, early diagnosis is life-saving
because of sinister kidney damage. Perform a urine examination for haematuria and
proteinuria. If positive, order an ANCA test. If positive, refer urgently.
Henoch–Schönlein purpura
More details are presented about this vasculitis disorder in CHAPTER 29 .
Takayasu arteritis2
Known as ‘pulseless disease’ or ‘aortic arch syndrome’, this vasculitis involves the aortic arch
and other major arteries. It typically affects young Japanese female adults. Features include
absence of peripheral pulses and hypertension.
Polyarteritis nodosa
The hallmark of PN is necrotising vasculitis of the small and medium arteries leading to skin
nodules, infarctive ulcers and other serious manifestations. The cause is unknown but
associations are found with drug abusers (especially adulterated drugs), B-cell lymphomas, other
drugs and hepatitis B surface antigen. It should be suspected in any multisystemic disease of
obscure aetiology.
Clinical features
Young to middle-aged men
Constitutional symptoms: fever, malaise, myalgia, weight loss
 Migratory arthralgia or polyarthritis Painful restriction of movement of shoulders and hips (other joints not usually involved)

Subcutaneous nodules along arterial lines Signs may be absent later in day

Livedo reticularis and skin ulcers ESR typically >40 but may be normal

Kidney impairment and hypertension Page 212

Cardiac disorders: arrhythmia, failure, infarction

Diagnosis confirmed by biopsy or angiogram

ESR raised

Treatment is with corticosteroids and immunosuppressants. Refer for specialist care.

Meticulous control of blood pressure is essential.

Death is usually from kidney disease

DxT arthralgia + weight loss + fever (± skin lesions) → polyarteritis nodosa

Giant cell arteritis and polymyalgia rheumatica

The basic pathology of this very important disease complex is GCA (synonyms: temporal
arteritis, cranial arteritis). The clinical syndromes are polymyalgia rheumatica and temporal
arteritis. The clinical manifestations of polymyalgia rheumatica invariably precede those of
temporal arteritis, of which there is about a 50% association. The diagnosis is based on clinical
grounds. No definite cause has been found.

Urgently refer any patient with giant cell arteritis.

Clinical features (polymyalgia rheumatica)

Pain and stiffness in proximal muscles of shoulder and pelvic girdle, cervical spine (refer
FIG. 21.7 )

Symmetrical distribution

Typical ages 60–70 years (rare <50)

Both sexes: more common in women

Early morning stiffness lasting >45 minutes

May be systemic symptoms: weight loss, malaise, anorexia, fever

 FIGURE 21.7 Polymyalgia rheumatica: typical sites of areas of pain and Starting dose:
stiffness
temporal (giant cell) arteritis: 1 mg/kg (usually 60 mg) (o) daily initially for 4 weeks (+
Differential diagnosis: polymyalgic onset rheumatoid arthritis. aspirin 100 mg/day) then gradual reduction according to ESR/CRP

polymyalgia rheumatica: 15 mg (o) daily for 4 weeks, then reduce daily dose by 2–5 mg
DxT malaise + painful shoulder girdle + morning stiffness (>50 years) →
polymyalgia rheumatica every 4 weeks to 10 mg/day, then 1 mg every 4–8 weeks to zero

Taper down gradually to the minimum effective dose (often <5 mg daily) according to the
clinical response and the ESR and CRP. Aim for treatment for 2 years. Relapses are common.
Clinical features (temporal arteritis)
If complicated (e.g. evolving visual loss) give IV methylprednisolone for 3 days prior to oral
Age >50 agents.

New headache—unilateral, throbbing (see CHAPTER 45 ) Other drugs

Visual symptoms, e.g. diplopia
Azathioprine or methotrexate can be used as steroid-sparing agents.
Temporal artery tenderness
Practice tip
Polymyalgia rheumatica

Loss of pulsation of temporal artery In giant cell arteritis, a delay in diagnosis after presenting with amaurosis fugax and
non-specific symptoms can have tragic consequences, in the form of ischaemic
Jaw claudication events such as blindness and strokes.

Biopsy of temporal artery (5 cm) is diagnostic

DxT fatigue/malaise + headache + jaw claudication → temporal arteritis

Behçet syndrome2
Behçet syndrome is a systemic (multiorgan) vasculitis of unknown aetiology, affecting veins and
arteries of all sizes. The main feature is painful oral ulceration and the hallmark is the ‘pathergy’
Investigation reaction whereby simple trauma such as a pinprick can cause a papule or pustule to form within a
few hours at the site.
No specific test for polymyalgia rheumatica
Clinical features
ESR—extremely high, >50 mm/hr
Male to female ratio = 2:1
C-reactive protein—elevated
Recurrent oral and/or genital ulceration
Mild anaemia (normochromic, normocytic)
Arthritis (usually knees)
8
Treatment for uncomplicated disease
Skin changes, e.g. erythema nodosum
Refer any patient with suspected GCA urgently.
Ocular symptoms—pain, reduced vision, floaters (ocular inflammation)
Prednisolone There is no specific diagnostic test.
Associated problems/complications: repeated uveitis and retinitis → blindness, colitis, venous
thrombosis, meningoencephalitis.
Treatment: high-dose steroids and specific ulcer treatment. DMARDs or bDMARDs may be
required. Page 213
Practice tip
Patients with Behçet eye disease should be referred promptly for an
ophthalmological opinion, which may be sight-saving.2
Granulomatosis2 with polyangiitis
Previously called ‘Wegener granulomatosis’, this rare vasculitis of unknown cause has a classic
triad: upper respiratory tract (URT) granuloma, fleeting pulmonary shadows (nodules) and
glomerulonephritis. Without treatment it is invariably fatal and sometimes the initial diagnosis is
that made at autopsy. It is difficult to diagnose, especially as the patient (usually young to
middle-aged) presents with a febrile illness and respiratory symptoms, but early diagnosis is
essential. It usually gets confused with benign nasal conditions.
Clinical features
Adolescence to elderly, mean age 40–45 years
Constitutional symptoms (as for PN)
Lower respiratory tract (LRT) symptoms (e.g. cough, dyspnoea)
Oral ulcers
Upper respiratory symptoms: rhinorrhoea, epistaxis, sinus pain, nasal septum loss, ear
dysfunction
Eye involvement—orbital mass
Polyarthritis
Kidney involvement—usually not clinically apparent (about 75% get glomerulonephritis)
Chest X-ray points to diagnosis—multiple nodes, cavitations
Antineutrophil antibodies (c-ANCA) are a useful diagnostic marker (not specific)
Diagnosis confirmed by biopsy, usually an open lung biopsy
Better prognosis with early diagnosis and treatment with appropriate DMARD
DxT malaise + URTs (e.g. rhinitis, sinusitis) + LRTs (e.g. wheeze, cough)
→ granulomatosis with polyangiitis
DxT asthma + rhinitis + vasculitis + hypereosinophilia → Churg−Strauss
vasculitis
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Rheumatoid arthritis
Systemic lupus erythematosus
References
1 Kumar PJ, Clark ML. Clinical Medicine (7th edn). London: Elsevier Saunders, 2009: 73–
7.
2 Inflammatory connective tissue diseases [published 2017]. In: Therapeutic Guidelines
[digital]. Melbourne: Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed
January 2020.
3 Hanrahan P. The great pretender: systemic lupus erythematosus. Aust Fam Physician,
2001; 30(7): 636–40.
4 Nikpour M et al. A systematic review of prevalence, disease characteristics and
management of systemic lupus erythematosus in Australia: identifying areas of unmet
need. Intern Med J, 2014; 44(12a): 1170–9.
5 Gill JM et al. Diagnosis of systemic lupus erythematosus. AM Fam Physician, 2003;
68(11): 2179–86.
6 Randell P. Scleroderma. In: MIMS Disease Index (2nd edn). Sydney: IMS Publishing,
1996: 458–60.
7 Steen VD et al. D-penicillamine therapy in progressive systemic sclerosis (scleroderma): a
retrospective analysis. Ann Intern Med, 1982; 97: 652–9.
8 Hernandez-Rodriguez J et al. Treatment of polymyalgia rheumatica: a systematic review.
Arch Intern Med, 2009; 169(20): 1839–50.
 Page 214 occurs in one eye when the other is covered. It arises from the eye itself.

The diagnostic strategy model is outlined in TABLE 22.1 .

Table 22.1
22 Neurological dilemmas Diplopia: diagnostic strategy model

Probability diagnosis?
Binocular:
ocular nerve palsy (3, 4, 6)—various causes
The disease is of long duration; to connect, therefore, the symptoms which occur in its later CVA/TIA
stages with those which mark its commencement, requires a continuance of observation of the
opthalmoplegic migraine
same case, or at least a correct history of its symptoms, even for several years.
physiological (disparateness)
JAMES PARKINSON (1755–1824), AN ESSAY ON THE SHAKING PALSY drug effect, e.g. alcohol, benzodiazepines
Monocular:
In general practice there are many neurological problems that present a diagnostic dilemma, with eye disorder, e.g. cataract, refractive error, cornea
some being true masquerades for the non-neurologist. This applies particularly to various seizure
disorders, space-occupying lesions in the cerebrum and the cerebellum, demyelinating disorders, Serious disorders not to be missed
motor neurone disorders and peripheral neuropathies.
Vascular:
The most common pitfall that occurs with neurological disorders is misdiagnosis, and the most CVA/TIA
common reason for misdiagnosis is an inadequate history. Failure to appreciate the neurological Infection:
meaning of points elicited during the history is another reason for misdiagnosis. intra-ocular abscess
sinusitis
Some very important neurological disorders are presented in this section: Parkinson disease,
which is common and can be easily misdiagnosed, especially when the classic ‘pill rolling’ botulism
tremor is absent or mild; multiple sclerosis (MS), because it is difficult to diagnose initially; and HIV/AIDS
acute idiopathic demyelinating polyneuropathy (Guillain–Barré syndrome), because it can be Tumour/cancer:
rapidly fatal if misdiagnosed. MS can masquerade as almost anything—‘If you don’t know what involving 3, 4 or 6 cranial nerves
it is, think of MS.’
Other:
Another brain teaser for the family doctor is to diagnose accurately the various types of epilepsy. facial bone trauma/head injury
The most commonly misdiagnosed seizure disorders are complex partial seizures or atypical Guillain–Barré syndrome
generalised tonic–clonic seizures (see CHAPTER 43 ).1 Even more difficult is the differentiation
of real seizures from pseudo- or non-epileptic seizures. As a rule, neurological conditions should Pitfalls (often missed)
be referred early for specialist management. Any orbital infiltration
Rarities:
Diplopia multiple sclerosis
myasthenia gravis
The onset of diplopia (double vision) in adults is often acute, very distressing and invariably easy orbital myositis
to diagnose. It is invariably binocular, which usually results from extraocular muscular cavernous sinus thrombosis
imbalance or weakness. The type of binocular diplopia—vertical, horizontal or oblique— Wernicke encephalopathy
provides clues in identifying the affected muscle. Monocular diplopia is double vision that
 Seven masquerades checklist trochlear, 6 = abducens)
Diabetes: mononeuritis
Drugs, e.g. sedatives, opioids, alcohol Key investigations
Thyroid/other endocrine—hyperthyroid?
Nil for most cases
Is the patient trying to tell me something?
A consideration if nil findings First line: urinalysis, blood sugar, FBE, ESR/CRP (?arteritis)
Some cases are idiopathic Consider: TFTs, imaging if indicated (refer)

Page 215 ESR (consider arteritis)

Diagnosis Note:
Diplopia should be differentiated from blurred vision, which is like ‘ghosting’ on a TV screen. Exclude 3rd and 6th nerve palsies as they may be secondary to life-threatening conditions.

Office tests Refer urgently if diplopia is binocular, of recent onset and persistent.

Test for double vision with each eye occluded. If diplopia persists, it is uniocular. If, however,
double vision disappears when either eye is covered, there is a defect of one of the muscles Motor weakness
moving the eyeball. Determine whether diplopia occurs in any particular direction of gaze. It is
most marked when moved in the direction of action of the weak muscle. Ask the patient to Muscle weakness is a common feature of many disorders ranging from neurogenic and myogenic
follow your finger, red pin or penlight with both eyes and move it in an H pattern. disorders to metabolic and psychiatric. It is very important clinically to be able to differentiate
upper motor neurone (UMN) signs from lower motor neurone (LMN) signs (see TABLE 22.2 ).
3rd nerve—eye turned out: divergent squint

6th nerve—failure to abduct: convergent squint (see FIG. 22.1 ) Table 22.2 Clinical differences between a lower motor neurone lesion and an
upper motor neurone lesion

Manifestation UMN LMN

Weakness Present Present
Wasting Absent or mild Marked
Power Reduced Reduced
Tone Usually increased (spastic Absent or decreased (flaccid
paralysis) ± clonus paralysis)
Fasciculations Absent May be present
Reflexes Brisk tendon reflexes Absent or diminished
Abdominal absent Downgoing plantar
Extensor plantar response response

FIGURE 22.1 Direction of movement of the right eye indicating the Upper motor neurone lesions
responsible extraocular muscles and cranial nerves (3 = oculomotor, 4 =
UMN signs occur when a lesion has interrupted a neural pathway at a level above the anterior
horn cell.2 Examples include lesions in motor pathways in the cerebral cortex, internal capsule,
brain stem or spinal cord.
Clinical examples include stroke (thrombosis, embolism or haemorrhage in the brain), tumours
of the various pathways, demyelinating disease (e.g. multiple sclerosis) and infection (e.g. HIV).
Lower motor neurone lesions
LMN signs occur when a lesion interrupts peripheral neural pathways from the anterior horn cell,
that is, the spinal reflex arc.
Clinical examples include peripheral neuropathy, Guillain–Barré syndrome, poliomyelitis and a
thickened peripheral nerve (e.g. leprosy).
not involved, nor the cranial nerves to the eye muscles. Five to 10% of MND is inherited with an
autosomal dominant pattern; the rest is sporadic. The three main patterns are:
1. amyotrophic lateral sclerosis (Lou Gehrig disease)—combined LMN muscle atrophy plus
UMN hyper-reflexia, leading to progressive spasticity. This is the most common type.
2. progressive muscle atrophy—wasting beginning in the distal muscles; widespread
fasciculation
3. progressive bulbar (LMN) palsy and pseudobulbar palsy (LMN lesions in the brain stem
motor nuclei). Results in wasted fibrillating tongue, weakness of chewing and swallowing, and
of facial muscles.
Symptoms and signs

Note: A spinal cord lesion causes LMN signs at the level of the lesion and UMN signs below that Weakness or muscle wasting—first noticed in hands (weak grip) or feet
level.
Stumbling (spastic gait, foot drop)

Neurogenic and myogenic muscle weakness Difficulty with swallowing

It is also important to distinguish between weakness caused by neurological conditions,
especially those causing LMN lesions and muscular disorders. The features are compared in
TABLE 22.3 . Myotonia is muscle stiffness with difficulty in relaxation after voluntary
contraction, e.g. dystrophia myotonica (myotonic dystrophy) (see TABLE 22.7 ). Page 216
Difficulty with speech, for example, slurring, hoarseness
Fasciculation (twitching) of skeletal muscles and fibrillating tongue
Cramps

Table 22.3 Emotional instability, depression

Muscle weakness: main clinical differences between neurogenic and
myogenic lesions ± Muscle pain

Myogenic weakness Neurogenic weakness The diagnosis is clinical. There are no diagnostic tests, but neurophysiological tests and MRI of
the brain and cord help differentiate from other conditions.
Reflexes often present despite severe Reflexes often absent despite minimal
weakness weakness MND is incurable and progresses to death usually within 3–5 years from ventilatory
Weakness out of proportion to wasting Wasting out of proportion to failure/aspiration pneumonia.
weakness
No treatment is proven to influence outcome although riluzole, a sodium channel blocker,
Sensation normal ± Sensory changes appears to slow progression slightly. Baclofen 10 mg bd may help symptoms of cramp.
No fasciculation (polymyositis may cause Fasciculation a feature Botulinum toxin may help spasticity and propantheline or amitriptyline for drooling.
fasciculation) Multidisciplinary care is essential. Management is supportive.

Motor neurone disease (MND)
MND is a progressive neuromuscular disorder resulting in muscular limb and bulbar weakness
due to death of motor neurones in the brain, brain stem and spinal cord. The sensory system is
Tremor
Tremor is an important symptom to evaluate correctly. The diagnostic model, including causes is
presented in TABLE 22.4 . A common pitfall in patients presenting with tremor is for Parkinson
disease (PD) to be diagnosed as benign essential tremor and for benign essential tremor to be
diagnosed as PD, but the clinical distinction is not always easy and it must be remembered that e.g. sympathomimetics, β agonists, lithium, Diagnostic tips
as many as 20% will experience both concurrently. Page 217 phenothiazines, valproate, amiodarone, alcohol) Essential tremor
Thyroid/other endocrine (hyperthyroidism, eased by a small
hypoglycaemia, phaeochromocytoma) quantity of alcohol
Table 22.4 Tremor: diagnostic strategy model
Triad of essential
Is the patient trying to tell me something?
tremor: postural or
Probability diagnosis Key history Anxiety (esp. hyperventilation) action tremor, head
tremor, positive
Benign essential (familial) tremor Nature of the family history
Senility tremor: resting,
Look for Parkinson
Physiological intention, pill- tetrad: resting
Parkinson disease (including drug-induced PD) rolling, flapping tremor,
(asterixis) bradykinesia,
Functional or psychogenic, e.g. anxiety/emotional
Family history of rigidity, postural
Alcohol tremor instability
Serious disorders not to be missed Evidence of Look for cerebellar
Vascular: cognitive changes tetrad: intention
or other tremor, dysarthria,
cerebral infarction → Parkinsonism neurological nystagmus, ataxic
Infection: problems gait
meningoencephalitis Systems review: Typical drugs that
respiratory, induce
tertiary syphilis
cardiac, liver, Parkinsonism are
Cancer/tumour: kidneys phenothiazine,
cerebral tumour (frontal lobe) Key examination butyrophenones,
Other: General reserpine
toxicity from organ failure (kidney, liver, lungs) appearance and
vital signs
Pitfalls often missed Respiratory,
Cerebellar disease cardiac, abdominal Resting tremor—Parkinsonian
Multiple sclerosis (esp. liver) and
neurological The tremor of PD is present at rest. The hand tremor is most marked with the arms supported on
Fragile X sydrome the lap and during walking. The characteristic movement is ‘pill-rolling’ where movement of the
examination
Alzheimer dementia fingers at the metacarpophalangeal joints is combined with movements of the thumb. The resting
Key investigations
Uraemia of kidney failure tremor decreases on finger–nose testing. The best way to evoke the tremor is to distract the
According to above:
CO2 retention of respiratory failure patient, such as focusing attention on the left hand with a view to ‘examining’ the right hand or
FBE and ESR by asking the patient to turn the head from side to side.
Hepatic failure thyroid function
Rarities: tests Action or postural tremor
(hyperthyroidism),
hepatolenticular degeneration (Wilson disease)
LFTs, pulse This fine tremor is noted by examining the patient with the arms outstretched and the fingers
lesion of midbrain (red nucleus) oximetry/blood apart. The tremor may be rendered more obvious if a sheet of paper is placed over the dorsum of
Seven masquerades checklist gases the hands. The tremor is present throughout movement, being accentuated by voluntary
Drugs (withdrawal, e.g. opioids, stimulants, illicit agents, drug screen contraction.
benzodiazepines, caffeine, alcohol; adverse reactions, MRI
Causes Essential tremor
Essential tremor (also called familial tremor or benign essential tremor) Essential tremor, which is probably the most common movement disorder (2–5% prevalence),
has been variously called benign, familial, senile or juvenile tremor.
Senile tremor

Physiological Clinical features

Anxiety/emotional Autosomal dominant disorder (variable penetrance)

Hyperthyroidism Often begins in early adult life, even adolescence

Alcohol Usually begins with a slight tremor in both hands

Drugs, for example, drug withdrawal (e.g. heroin, cocaine, alcohol), amphetamines, lithium, May involve head (titubation), chin and tongue and rarely trunk and legs
sympathomimetics (bronchodilators), sodium valproate, heavy metals (e.g. mercury), caffeine,
Interferes with writing (not micrographic), handling cups of tea and spoons, etc.
amiodarone

Phaeochromocytoma Tremor most marked when arms held out (postural tremor); less evident at rest

Tremor exacerbated by anxiety

Intention tremor (cerebellar disease)
May affect speech if it involves bulbar musculature
This coarse oscillating tremor is absent at rest but exacerbated by action and increases as the
target is approached. It is tested by ‘finger–nose–finger’ touching or running the heel down the Relieved by alcohol
opposite shin, and past pointing of the nose is a feature. It occurs in cerebellar lobe disease, with
lesions of cerebellar connections and with some medications. Can swing arm and gait normal

Triad of features
Flapping (metabolic tremor)
Positive family history
A flapping or ‘wing-beating’ tremor is observed when the arms are extended with
hyperextension of the wrists. It involves slow, coarse and jerky movements of flexion and Tremor with little disability
extension at the wrists.
Normal gait
Note: Flapping (asterixis) is not strictly a tremor. Page 218

Distinguishing essential tremor from Parkinson disease

Causes
This is not always easy as a postural tremor can be present in PD, although the hand tremor is
Wilson syndrome most marked at rest with the arms supported on the lap. Parkinsonian tremor is slower at 4–6 Hz
while essential tremor is much faster at around 8–13 Hz. Imaging is unnecessary.
Hepatic encephalopathy
A most useful way to differentiate the two causes is to observe the gait. It is normal in essential
Uraemia tremor but in PD there may be loss of arm swing and the step is usually shortened with stooped
posture and shuffling gait.
Respiratory failure

Lesions of the red nucleus of the midbrain (the classic cause of a flap) Management
Most patients do not need treatment and all that is required is an appropriate explanation.1 If
necessary, use propranolol (first choice) or primidone 62.5 mg nocte (up to 250 mg).3 A typical The mean age of onset is between 58 and 62 years.5
starting dose of propranolol is 10–20 mg bd; many require 120–240 mg/day.3 If the tremor is
only intrusive at times of increased emotional stress, intermittent use of benzodiazepines (e.g. The incidence rises sharply over 70 years of age (peak 65 years).5
lorazepam 1 mg) 30 minutes before exposure to the stress may be all that is required. Modest
alcohol intake (e.g. a glass of whisky) is very effective. A standard drink of alcohol often The diagnosis is based on the history and examination.
alleviates the tremor. Larger doses of alcohol have no additional effect. If drugs fail, deep brain
stimulation to the thalamus can be used. Always think of PD in an older person presenting with falls.

A reduced sense of smell is one of the first symptoms. Others that may precede
Parkinson disease PD include constipation, REM sleep disorders and orthostatic hypotension.

Parkinson disease (PD) is a disorder of the automatic processor of the brain which relies on
dopamine to maintain movements at a selected size and speed. Loss of dopamine causes
movements to become smaller and slower. The pathological features are loss of dopamine-
producing neurones from the substantia nigra in the brain stem together with Lewy bodies in the
neurones.4 Genetic factors occur in 5% of individuals.
Non-motor automatic dysfunctions: cognition, behaviour, mood.
Hemi-parkinsonism can occur; all the signs are confined to one side and thus
must be differentiated from hemiparesis. In fact, most cases of PD start
unilaterally.

One of the most important clinical aspects of PD, which has a slow and insidious onset, is the Always consider drug-induced Parkinsonism. The usual drugs are
ability to make an early diagnosis. Sometimes this can be very difficult, especially when the phenothiazines, butyrophenones and reserpine. Tremor is uncommon but rigidity
tremor is absent or mild, as occurs with the atherosclerotic degenerative type of Parkinsonism. and bradykinesia may be severe.
The lack of any specific abnormality on special investigation leaves the responsibility for a
diagnosis based on the history and examination. As a general rule of thumb the diagnosis of PD Other causes include vascular (atherosclerosis) and normal pressure
is restricted to those who respond to levodopa (L-dopa)—the rest are termed Parkinsonism or hydrocephalus.
‘Parkinson plus’.
Refer to TABLE 22.5.
The classic quintet of PD
Page 219
1. Tremor (at rest)

2. Rigidity

3. Bradykinesia/hypokinesia

4. Postural instability

5. Gait freezing

≥2 signs = Parkinson disease

Key facts and checkpoints

PD is a most common and disabling chronic neurological disorder. About 90%
are idiopathic.

The prevalence in Australia is 120–150 per 100 000.5 Lifetime risk is 1 in 40.
 Trouble getting out of chair or car and turning
over in bed
Tremor Present at rest
Slow rate—4 to 6 cycles per second
Alternating, especially arms
Pill-rolling (severe cases)
Note: may be absent or unilateral
Rigidity ‘Cogwheel’—‘juddering’ on passive extension
of the forearm—feels like going through cogs
Lead pipe—limbs resist passive extension
through movement (constant resistance)
Motor: bradykinesia/hypokinesia Slowness of initiating a movement
Difficulty with fine finger tasks
Micrographia (see FIG. 22.3 )
Masked facies
Relative lack of blinking
Impaired convergence of eyes
Excessive salivation (late)
Swallowing problems (can aspirate)
Difficulty turning over in bed and rising from a
chair
Slow, soft monotonous speech/dysarthria
Gait disorder No arm swing on one or both sides
Start hesitation
Slow, shuffling and narrow based
Short steps (petit pas)
FIGURE 22.2 Basic clinical features of Parkinson disease6 Slow turning circle (‘turn by numbers’)
‘Freezing’ when approaching an obstacle
Page 220
Festination
Table 22.5 Parkinson disease: symptoms and signs (a checklist) Disequilibrium Poor balance
Impaired righting reflexes
General Tiredness Falls—may be first thing that leads to
Lethargy presentation
Restlessness Posture Progressive forward flexion of trunk (stooped)
 Flexion of elbow at affected side Belief that it is a disease of men: M = F
Autonomic symptoms Constipation (common) Absence of resting tremor (only 50% have it at onset)
Postural hypotension—may be induced by
treatment
Neuropsychiatric Depression (early), anxiety, sleep disorder
Principles of management
Progressive dementia in 30–40% usually after Provide appropriate explanation and education.
10 years6
Explain that PD is slowly progressive and is improved but not cured by treatment. It is
Hallucinations—either with Lewy body associated with increased mortality (RR death compared with general population ranges 1.6 to
dementia or treatment 3). The question of whether treatment reduces mortality remains controversial.7

Refer to a specialist for shared care—from outset.

Support systems are necessary for advanced PD.

Walking sticks (which spread the centre of gravity) with appropriate education into their use
may be necessary to help prevent falls, and constant care is required. Admission to a nursing
home for end-stage disease may be appropriate.

Correct dopamine deficiency and/or block cholinergic excess in the brain.

FIGURE 22.3 Micrographia, one of the signs of Parkinson disease
Signs
Power, reflexes and sensation are usually normal.
Muscle tone is increased: patients display cogwheel or lead-pipe rigidity when tested at wrist.
The earliest abnormal physical signs to appear are loss of dexterity of rapid alternating
movements and absence of arm swing, in addition to increased tone with distraction.
Management (pharmacological)8,9
Avoid postponing treatment. It should be commenced as soon as symptoms interfere with
working capacity or the patient’s enjoyment of life. This will be apparent only if the correct
questions are asked as the patient may accept impaired enjoyment without appreciating that it is
due to PD. Start low—L-dopa 100/25 (½ tab bd) and go slow. There is usually no difference
between the L-dopa preparations. The dosage should be tailored so that the patient neither
develops side effects nor is on an inadequate dose of medication without significant therapeutic
benefit (see TABLE 22.6 ). The dose usually progresses to 1 tab bd, then consider add-on
therapy. Page 221

Positive frontal lobe signs, such as grasp and glabellar taps (only allow three blinks), are more
common with Parkinsonism. Table 22.6 Antiparkinson drugs8,9

Note: There is no laboratory test for PD—it is a clinical diagnosis. Hypothyroidism and
depression, which also cause slowness of movement, may cause confusion with diagnosis. Agent Main adverse effects
Dopaminergic (standard and
Note: The Steele–Richardson–Olszewksi syndrome (also known as progressive supranuclear slow release)
palsy—PSP parkinsonism, mild dementia and vertical gaze dysfunction) is worth considering. L-dopa + benserazide Nausea and vomiting (initially)
Orthostatic hypotension
L-dopa + carbidopa
Involuntary dyskinetic movements
Three major traps in missing early diagnosis:5 Psychiatric disturbances
Compulsive behaviour/impulse control
Age: 10–15% are <50 years at onset disorders (as below)
 On–off phenomena management but L-dopa, which basically counters bradykinesia, is the best drug and the baseline
End-of-dose failure of treatment. With the onset of disability (motor disturbances), L-dopa in combination with a
Constipation decarboxylase inhibitor (carbidopa or benserazide) in a 4:1 ratio should be introduced. L-dopa
Dopamine agonists therapy does not significantly improve tremor but improves rigidity, dyskinesia and gait disorder.
It is preferred in those >70 years.10 Consider benzhexol or benztropine if tremor is the feature,
Ergot derivatives (not especially in young patients.
recommended): Nausea and vomiting
Dizziness, fatigue, somnolence
bromocriptine The new non-ergot derivative dopamine agonists (e.g. pramipexole and rotigotine) can be used in
Compulsive behaviours (gambling, punding,
cabergoline treatment, especially with the L-dopa ‘on–off’ phenomenon (fluctuations throughout the day),
overspending, hypersexuality)
Orthostatic hypotension and also as first-line monotherapy in early PD in certain circumstances and with caution.8 They
pergolide
are preferred to the ergot derivatives because of a superior adverse effect profile. They appear to
Non-ergot derivatives: be most effective when used in combination. The ergot derivatives can have serious adverse
pramipexole effects, including cardiac valve damage, and are no longer recommended. Selegiline is an
effective second-line drug, especially in combination with Sinemet. If there is associated pain,
ropinirole
depression or insomnia, the tricyclic agents (e.g. amitriptyline) can be effective. Page 222
rotigotine
apomorphine (SC injection) Entacapone has the potential to increase ‘on time’ and reduce motor fluctuations in L-dopa
Nausea, psychosis, dyskinesia treated patients who are beginning to experience end-of-dose failure. The initial dose is 200 mg
and best used when combined with L-dopa.
Anticholinergics
benzhexol Dryness of mouth
GIT upset Treatment strategy8,9
benztropine Constipation
biperiden Mild (minimal disability):
Confusion in elderly
Contraindicated in glaucoma and prostatism L-dopa preparation (low dose), e.g. L-dopa 100 mg + carbidopa 25 mg (½ tab bd—increase
COMT inhibitors gradually as necessary to 1 tab (o) tds)
entacapone Diarrhoea, discoloured urine
Sleep problems or
combination entacapone/L-
dopa-carbidopa (Stalevo) amantadine 100 mg (o) daily may help the young or the elderly for up to 12 months—if
inadequate response
MAO-B inhibitors
selegiline Dry mouth selegiline up to 5 mg bd can be added to L-dopa if necessary
Neuropsychiatric disturbances
rasagiline
Nausea Moderate (independent but disabled, e.g. writing, movements, gait):
Dizziness, fatigue
Insomnia L-dopa preparation
Others
selegiline 1 mg bd
amantadine Nausea and vomiting
Insomnia and/or
Nightmares
Neuropsychiatric disturbances add if necessary—non-ergot dopamine agent
Ankle oedema
Livedo reticularis pramipexole start with 0.25 mg transdermally daily

or
The older drugs, such as anticholinergics and amantadine, still have a place in modern

rotigotine start with 2 mg daily
Severe (disabled, dependent on others):
L-dopa (to maximum tolerated dose) + non-ergot dopamine agent
add entacapone 200 mg (o) with each dose of L-dopa, e.g. Stalevo
consider antidepressants
An example of a practical treatment algorithm is presented in FIGURE 22.4
FIGURE 22.4 Management of early Parkinson disease: one possible pathway
Long-term problems
After 3–5 years of L-dopa treatment, side effects may appear in about one-half of patients:5
involuntary movements—dyskinesia
end-of-dose failure (reduced duration of effect to 2–3 hours only)—consider entacapone
‘on–off’ phenomenon (sudden inability to move, with recovery in 30–90 minutes)
early morning dystonia, such as clawing of toes (due to disease—not a side effect)
. Specialist advice is appropriate.
Advanced disease8
Under consultant and good home/nursing care:
apomorphine can be used for severe akinesia not responsive to L-dopa
for nausea and vomiting side effects: domperidone 20 mg (o) tds 24 hours prior to
apomorphine
better control may also be achieved with: amantadine 100 mg (o) bd
duodopa—levodopa into jejunum
Page 223
Contraindicated drugs
Phenothiazines and other older antipsychotics
Butyrophenones
Multidisciplinary care
This important strategy includes physiotherapy, occupational therapy, physical therapy, e.g. tai
chi, and psychiatry/psychology, e.g. CBT, mindfulness.
Treatment (surgical)
The preferred method is high-frequency deep brain stimulation via electrodes into the
subthalamic nucleus, which may benefit all major features of the disease. The indication for
surgery such as thalamotomy is erratic and disabling responses to prolonged L-dopa therapy,
especially for annoying dyskinesias. It is considered more appropriate for younger patients with a
unilateral tremor.8
When to refer
If the diagnosis is unclear at the time of initial presentation, it is appropriate either to review the
patient at a later date or to refer the patient for more neurological assessment.

Once diagnosed or highly suspected, it is best to refer to establish the diagnosis and to seek
advice on initiation of treatment. Patients and families usually prefer this approach. In the initial
years before motor fluctuations develop, management could be performed by the GP according
to an overall plan developed in liaison with a neurological colleague. When fluctuations develop
and end-stage diseases manifest (e.g. gait disorders), specialist supervision is appropriate.1

Parkinson Plus disorders and red flags in differential

diagnosis11
Bilateral onset (PSP)

Poor response to L-dopa FIGURE 22.5 Factors contributing to psychosis

Dysautonomia—bladder, orthostatic hypotension (MSA)
Management (psychotic problems)
Dystonia (PSP)
Treat as an inpatient
Anterocollis (head flexed) (MSA)
Exclude and treat comorbidities, e.g. UTI
Retrocollis (head extended) (PSP)
Eliminate and wean off worst drugs
Myoclonus (CBD, CJD)
Increase L-dopa slowly to 150 mg tds or qid
Early-onset dementia (LBD)
Give low dose of quetiapine first line, or olanzapine at night-time
Abbreviations: CBD = corticobasal degeneration, CJD = Creutzfeldt–Jakob disease, LBD = Lewy body dementia,
MSA = multiple system atrophy, PSP = progressive supranuclear palsy
Practice tips for Parkinson disease
One of the simplest diagnostic tools for PD, as compared with Parkinsonism, is a
Cognitive impairment with Parkinson disease4,10 trial of therapy with L-dopa. The response is excellent while that for Parkinsonism
This may be due to multiple factors including Parkinson-associated dementia, Lewy body is poor.
dementia, Alzheimer disease and medication, all of which can induce psychosis, but L-dopa is
L-dopa is the gold standard for therapy.
the least likely. Neuropsychiatric symptoms, which can be varied and bizarre and usually worse
in the evening, can occur. Factors contributing to psychosis are illustrated in FIGURE 22.5. Ensure that a distinction is made between drug-induced involuntary movements
Management is based on monotherapy with gradual build-up of L-dopa to maximum tolerated and the tremor of PD.
dose, for example, 450–600 mg/day.
Keep the dose of L-dopa as low as possible to avoid these drug-induced
involuntary movements.
 In the elderly with a fractured hip always consider PD (a manifestation of uremia
disequilibrium).
Guillain–Barré syndrome
Remember the balance of psychosis and PD in treatment. trauma to spinal cord
marine fish toxins, e.g. toadfish, ciguatera
Keep in mind the ‘sundown’ effect—patients often go psychotic as the sun goes
down. Pitfalls (often missed)
Migraine variant with focal signs
Don’t fail to attend to the needs of the family, who often suffer in silence. Multiple sclerosis/transverse myelitis
Hypocalcaemia
If drugs are to be withdrawn they should be withdrawn slowly. Rarities:
chronic inflammatory polyneuropathy
amyloidosis
Page 224
heavy metal toxicity, e.g. lead
Paraesthesia and numbness Seven masquerades checklist?
The diagnostic strategy model for paraesthesia and numbness is presented in TABLE 22.7 . Diabetes
Drugs, e.g. cytotoxic agents, interferon (see list)
Anaemia—pernicious anaemia
Table 22.7 Paraesthesia and numbness: diagnostic strategy Thyroid/other endocrine—hypothyroid?
model Spinal dysfunction
Is the patient trying to tell me something?
Consider conversion reaction (hysteria), severe anxiety disorder
Probability diagnosis
Some cases may be idiopathic
Diabetic peripheral neuropathy
Nutritional peripheral neuropathy, esp. alcohol, B12, folate
Hyperventilation with anxiety
Multiple sclerosis
Nerve root pressure, e.g. sciatica, cervical spondylosis
Nerve entrapment, esp. carpal tunnel syndrome Multiple sclerosis (MS) is the most common cause of progressive neurological disability in the
20–50 year age group.11 It is generally accepted that MS is an autoimmune disorder. Genetic and
Serious disorders not to be missed
environmental factors are believed to play a role.12 Early diagnosis is difficult because MS is
Vascular: characterised by widespread neurologic lesions that cannot be explained by a single anatomical
CVA/TIA lesion, and the various symptoms and signs are subject to irregular exacerbations and remissions.
peripheral vascular disease The lesions are ‘separated in time and space’. The most important issue in diagnosis is the need
for a high index of suspicion. The use of MRI has revolutionised the diagnosis of MS.
Infection:
AIDs MS is a primary demyelinating disorder with demyelination occurring in plaques throughout the
Lyme disease/suspected tick-borne disease white and grey matter of the brain, brain stem, spinal cord and optic nerves. The clinical features
depend on their location. There is a loss of brain volume.
leprosy
some viral infections There is a variety of types of MS—relapsing remitting (most common), secondary progressive,
Tumour/cancer: progressive relapsing and primary progressive—together with ‘benign’ and ‘malignant’ forms.
disseminated malignancy Page 225
cerebral/spinal cord tumours
Clinical features
Other:
See FIGURE 22.6 .

FIGURE 22.6 Basic clinical signs in multiple sclerosis

More common in females (3:1)

Peak age of onset is in the fourth decade

Transient motor and sensory disturbances

UMN signs

Symptoms develop over several days but can be sudden

Monosymptomatic initially in about 80%

Only 20% have a benign disease

 Multiple symptoms initially in about 20%
Common initial symptoms include:
visual disturbances of optic neuritis (blurred vision or loss of vision in one eye—sometimes
both); central scotoma with pain on eye movement (looks like unilateral papilloedema)
diplopia (brain-stem lesion)
weakness in one or both legs, paraparesis or monoparesis
sensory impairment in the lower limbs and trunk: numbness, paraesthesia; band-like
sensations; clumsiness of limb (loss of position sense); feeling as though walking on cotton
wool
vertigo (brain-stem lesion)
Subsequent remissions and exacerbations that vary from one individual to another
80% have a relapsing remitting disease
There is a progressive form, esp. in women around 50 years
Anxiety, depression and other mood disorders are common
Symptoms causing diagnostic confusion
Bladder disturbances, including retention of urine and urgency
‘Useless hand’ due to loss of position sense
Facial palsy
Trigeminal neuralgia
Psychiatric symptoms
In established disease, common symptoms are fatigue, impotence and bladder disturbances.
Examination (neurological)
The findings depend on the site of the lesion or lesions and include optic atrophy, weakness,
hyper-reflexia, extensor plantar responses, nystagmus (two types—cerebellar or ataxic), ataxia,
incoordination and regional impairment of sensation.
Diagnosis
The diagnosis is clinical along with the MRI and depends on the following determinants:
Lesions are invariably UMN.
>1 part of CNS is involved, although not necessarily at time of presentation.
Episodes are separated in time and space.
Practically MS can only be diagnosed after a second relapse or when the MRI shows new
lesions.11
An early diagnosis requires evidence of contrast-enhancing lesions or new T2 lesions on the
MRI indicating dissemination in time.
The diagnostic criteria is based on the internationally accepted 2010 McDonald criteria (refer
to: www.nice.org.uk).12,13
Other neurological disorders such as infections (e.g. encephalitis), malignancies, spinal Page 226
cord compression, spinocerebellar degeneration and others must be excluded.
Investigation
Lumbar puncture: oligoclonal IgG detected in CSF in 90% of cases14 (only if necessary)
Visual evoked potentials: abnormal in about 90% of cases
MRI scan: usually abnormal, demonstrating MS lesions in about 90% of cases14
Course and prognosis
The course is variable and difficult to predict. An early onset (<30 years) is usually ‘benign’
while a late onset (≥50 years) is often ‘malignant’.
MS follows a classic history of relapses and remissions in 80–85% of patients.14
The rate of relapse is about once in 2 years.
About 20% have a progressive course from the onset with a progressive spastic paraparesis
(applies mainly to late-age onset).
The average duration of MS is about 40 years from diagnosis to death.14
A ‘benign’ course occurs in about 30% of patients with 10–20% never suffering major
disability.
The median time to needing a walking aid is 15 years.8
The likelihood of developing MS after a single episode of optic neuritis is about 60%.
Management principles
 All patients should be referred to a neurologist for confirmation of the diagnosis, which must Physiotherapy
be accurate.
Baclofen 10–25 mg (o) nocte
Explanation about the disorder and its natural history should be given.
For continuous drug therapy: baclofen 5 mg (o) tds, increasing to 25 mg (o) tds + diazepam
Acute relapses require treatment if causing significant disability. 2–10 mg (o) tds

Depression and anxiety, which are common, require early treatment, e.g. paroxetine. An alternative is dantrolene

CBT or mindfulness-based interventions. Paroxysmal (e.g. neuralgias)

Treatment (relapses) Carbamazepine or gabapentin

Mild relapses Cannabis

Mild symptoms, such as numbness and tingling, require only confirmation, rest and reassurance. The reported efficacy of the cannabis-based medicine Sativex for relaxation, pain and bladder
function is still being debated. One RCT showed a positive effect on detrusor activity.17
Moderate relapses
See references 8 and 16 for treatment of other symptoms.
Prednisolone—in outpatient setting
Peripheral neuropathy
Severe relapses or attacks8,15
Peripheral neuropathy (PN) refers to all conditions causing nerve damage outside the central
These attacks include optic neuritis, paraplegia or brain-stem signs. Admit to hospital for IV nervous system. It can be a mononeuropathy, such as carpal tunnel syndrome; mononeuropathy
therapy: multiplex involving multiple single nerves in an asymmetric pattern (as in vasculitides); or a
polyneuropathy, which is a diffuse symmetric disorder best referred to as PN. It can be classified
methylprednisolone 1 g in 200 mL saline by slow IV infusion (1 hour) daily for 3 days according to clinical progression as acute, subacute or chronic. The manifestations can be
sensory, motor, autonomic or mixed (sensorimotor). Page 227
Plasma exchange may be used.
Sensory symptoms: tingling, burning, numbness in extremities, unsteady gait (loss of position
Observe carefully for cardiac arrhythmias. sense)

Drugs to prevent relapses16 Motor symptoms (LMN): weakness or clumsiness in hands, foot/wrist drop

Currently first-line immunomodulators are the interferons, glatiramer acetate and the monoclonal Signs: may be classic ‘glove and stocking’ sensory loss, sensory ataxia, LMN signs—distal
antibodies natalizumab and alemtuzumab, or others. muscle wasting, muscle weakness, reflexes absent or depressed, fasciculations

Interferon beta-1b (SC injection) and beta-1a (IM injection) appear to be effective (but Causes
expensive) for those with frequent and severe attacks.
Mostly sensory: diabetes mellitus, vitamin deficiency (folate, B1, B6, B12), alcohol, various
New agents being evaluated include teriflunomide, siponimod, daclizumab, ocrelizumab and neurotoxic drugs, leprosy, uraemia (CKF), amyloidosis, malignancy
Biotin.
Mostly motor: lead poisoning, porphyria, various neurotoxic drugs, Charcot–Marie–Tooth
7,16
Treatment (symptoms) syndrome (peroneal muscle atrophy), acquired inflammatory polyneuropathies—acute
(Guillain–Barré syndrome) and chronic (chronic inflammatory demyelinating polyneuropathy)
Spasticity
Note: In many instances no cause is found despite a full history and examination.
Management Treatment is with plasma exchange or IV immunoglobulin (0.4 g/kg/day for 5 days), which
may need to be continued monthly.8
Refer to a suitably qualified consultant for diagnosis, particularly via electrophysiology.
Corticosteroids are not generally recommended.
Acute inflammatory polyradiculoneuropathy (Guillain–
Outcome
Barré syndrome)
About 80% of patients recover without significant disability. Approximately 5% relapse.18
Guillain–Barré syndrome, which is a rapidly progressive and treatable cause of PN or ascending
radiculopathy, is potentially fatal. Early diagnosis of this serious disease by the family doctor is
crucial as respiratory paralysis may lead to death. The underlying pathology is segmental Chronic inflammatory demyelinating polyneuropathy8,19
demyelination of the peripheral nerves and nerve roots.
This acquired immunological disorder is similar to Guillain–Barré syndrome except that it has a
slower and more protracted course. Diagnosis is by nerve studies and treatment is with
Clinical features corticosteroids, plasmapheresis or IV immunoglobin.
Weakness in the limbs (usually symmetrical)
Charcot–Marie–Tooth syndrome
Paraesthesia or pain in the limbs (less common)
This is an inherited autosomal dominant polyneuropathy with an insidious onset from puberty.
Both proximal and distal muscles affected, usually starts peripherally and moves proximally Clinical features include weakness in the legs, variable distal sensory loss and muscle atrophy
giving the ‘inverted champagne bottle’ appearance of the legs. The features vary according to the
Facial and bulbar paralysis (rare) various subgroups. Refer for electrodiagnostic studies and specific genetic testing.
Weakness of extraocular muscles (rarely)
Familial periodic paralysis
Reflexes depressed or absent
An autosomal dominant skeletal muscle disorder. Clinical features:
Variable sensory loss but rare
young patient (usually adolescent)
Within 3–4 weeks the motor neuropathy, which is the main feature, progresses to a maximum
disability, possibly with complete quadriparesis and respiratory paralysis.18 day after vigorous exercise awakens with weakness in limbs (for 4–24 hours)

flaccid paralysis/loss of deep tendon reflexes

Investigation
Related to potassium levels—measure during symptoms. Classify as high, low or normal.
CSF protein is elevated; cells are usually normal.

Motor nerve conduction studies are abnormal. Myasthenia gravis

Management Myasthenia gravis (MG) is an acquired autoimmune disorder that usually affects muscle
strength. Patients have fluctuating symptoms and variable distribution of muscle weakness. All
Admit to hospital. degrees of severity, ranging from occasional mild ptosis to fulminant quadriplegia and
respiratory arrest, can occur20 (see TABLE 22.8 ). It is associated with thymic tumour and other
Respiratory function (vital capacity) should be measured regularly (2–4 hours at first). autoimmune diseases, for example, RA, SLE, thyroid and pernicious anaemia. Page 228

Tracheostomy and artificial ventilation may be necessary.

Table 22.8 Clinical classification of acquired myasthenia gravis
Physiotherapy to prevent foot and wrist drop and other general care should be provided.
 Group I Ocular MG FIGURE 22.7 Myasthenia gravis in a 40-year-old woman with a 12-month
Group IIA Mild generalised MG history of increasing muscular weakness including drooping of the eyelids.
Ptosis, especially on the right side, is apparent.
Group IIB Moderate to severe MG
Group III Acute severe (fulminating) MG with respiratory muscle weakness Diagnosis
Group IV Late (chronic) severe MG
Serum anti-acetylcholine receptor antibodies

Electrophysiological tests if antibody test negative

Clinical features
CT scan to detect thymoma
Painless fatigue with exercise
Edrophonium test still useful but potentially dangerous (atropine is the antidote)
Weakness also precipitated by emotional stress, pregnancy, infection, surgery
Management principles8,20
Variable distribution of weakness:
Refer for consultant management.
ocular: ptosis (60%) and diplopia (see FIG. 22.7 ); ocular myasthenia only remains in
about 10% Detect possible presence of thymoma with CT or MR scan of thorax. If present, removal is
recommended.
bulbar: weakness of chewing, swallowing, speech (ask to count to 100), whistling and head
lolling Thymectomy is recommended early for generalised myasthenia, especially in all younger
patients with hyperplasia of the thymus, even if not confirmed preoperatively.
limbs (proximal and distal)
Plasmapheresis is useful for acute crisis or where temporary improvement is required or
generalised patients are resistant to treatment.
respiratory: breathlessness, ventilatory failure Avoid drugs that are relatively contraindicated.
Note: The classic MG image is ‘the thinker’—the hand used to hold the mouth closed and the Pharmacological agents:
head up.
anticholinesterase inhibitor drugs, first-line (e.g. pyridostigmine, neostigmine or
distigmine), should be used only for mild-to-moderate symptoms

corticosteroids are useful for all grades of MG (should be introduced slowly)

immunosuppressive agents

Practice tips for myasthenia gravis

The combination of ocular and facial weakness should alert the family doctor to
the possibility of a neuromuscular disorder, especially MG or mitochondrial
myopathy.19 Look for weakness and fatigue.

Beware of facioscapulohumeral dystrophy.

 Ptosis may develop only after looking upwards for a minute or longer.
Smiling may have a characteristic snarling quality.
Ptosis
It is worth remembering that the four major causes of ptosis are:
1. 3rd cranial nerve palsy—ptosis, eye facing ‘down and out’, dilated pupil, sluggish light reflex
2. Horner syndrome—ptosis, miosis (constricted pupil), ipsilateral loss of sweating
3. Mitochondrial myopathy—progressive external ophthalmoplegia or limb weakness, induced
by activity—no pupil involvement
4. Myasthenia gravis—ptosis and diplopia, no pupil involvement
Page 229
Dystonia
Dystonias are sustained or intermittent abnormal repetitive movements or postures resulting from
alterations in muscle tone. The dystonic spasms may affect one (focal) or more (segmental) parts
of the body or the whole body (generalised).
Key facts and checkpoints
Misdiagnosis is common as transient symptoms may be mistaken for an
emotional or psychiatric disorder. Many cases take years to diagnose.
Dystonias are often regarded as nervous tics.
The cause is thought to be disorders of the basal ganglia of the brain, but mainly
there is no known specific cause.
Neuroleptic and dopamine receptor blocking agents (e.g. L-dopa,
metoclopramide) can induce a severe generalised dystonia (e.g. oculogyric
crisis) which is treated with benztropine 1–2 mg IM or IV.8 However, L-dopa is
the drug of choice in some L-dopa responsive dystonias.
Focal dystonias
Blepharospasm is a focal dystonia of the muscles around the eye resulting in uncontrolled
blinking, especially in bright light. This is best treated with botulinum toxin, type A.
Oromandibular dystonia affects the jaw, tongue and mouth, resulting in jaw grinding
movements and grimacing. Proper speech and swallowing may be disrupted.
Meige syndrome is a combination of blepharospasm and oromandibular dystonia.
Note: It must be differentiated from the buccal-lingual-facial movements of tardive dyskinesia.
Hemifacial spasm involves involuntary, irregular muscle contractions and spasms affecting
one side of the face. It usually starts with twitching around the eye and then spreads to involve
all the facial muscles on one side. It is usually due to irritation of the facial nerve in its
intracranial course and surgical intervention may alleviate this problem.
Writer’s cramp, typist’s cramp, pianist’s cramp, golfer’s cramp are all occupational focal
dystonias of the hand and/or forearm initiated by performing these skilled acts.
Cervical dystonia or spasmodic torticollis is a focal dystonia of the unilateral cervical muscles.
It usually begins with a pulling sensation followed by twisting or jerking of the head, leading
to deviation of the head and neck to one side. In early stages patients can voluntarily overcome
the dystonia.
Laryngeal or spastic dystonia is a focal dystonia of the laryngeal muscles resulting in a
strained, hoarse or creaking voice. It may lead to inability to speak in more than a whisper.
Treatment
The current treatment for focal or segmental (spread to an adjacent body region) dystonias is
localised injection of purified botulinum A toxin into the affected muscle groups. The dosage is
highly individualised and needs to be repeated at intervals of 3 and 6 months. The injections
have to be given with great caution, ideally by a registered injector.
Tics
Motor and vocal tics are a feature of Tourette disorder. If socially disabling, treat with:
haloperidol 0.25 mg (o) nocte, very gradually increasing to 2 g (max.) daily7
or
clonidine 25 mcg (o) bd for 2 weeks, then 50–75 mcg bd
Facial nerve (Bell) palsy15
Idiopathic facial (7th nerve) palsy, which is an acute unilateral lower motor neurone paresis or
paralysis, is the commonest cranial neuropathy. The classic type is Bell palsy, which is usually
idiopathic although attributed to an inflammatory swelling involving the facial nerve in the bony Massage and facial exercises during recovery
facial canal. In Ramsay–Hunt syndrome, which is due to infection with herpes zoster causing
facial nerve palsy, vesicles may be seen on the ipsilateral ear. Note:

Associations: At least 70–80% achieve full spontaneous recovery; higher if mild. Remission should begin
within 1 week of onset.
herpes simplex virus (postulated)
Electromyography and nerve excitability or conduction studies are a prognostic guide only.
diabetes mellitus
No evidence that nucleoside analogue, for example, aciclovir, is useful but should be used for
hypertension Ramsay–Hunt syndrome.

thyroid disorder, e.g. hyperthyroidism No evidence that surgical procedures to decompress the nerve are beneficial.15

Clinical features Patient education resources

Abrupt onset (can worsen over 2–5 days)
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Weakness in the face (complete or incomplete)
Bell palsy
Preceding pain in or behind the ear
Tremor: essential tremor
Impaired blinking
Parkinson disease
Bell phenomenon—when closing the eye it turns up under the half-closed lid

Less common: Page 230 Resources

difficulty eating Parkinson disease: www.parkinsons.org.au

loss of taste—anterior two-thirds of tongue Multiple sclerosis: www.msaustralia.org.au

hyperacusis Amyotrophic lateral sclerosis: www.mndaust.asn.au

Management21
References
prednisolone 1 mg/kg (o) up to 75 mg (usually 60 mg) daily in the morning for 5 days (start
within 48 hours of onset) 1 Iansek R. Pitfalls in Neurology Melbourne: Proceedings of Monash University Medical
School Update Course, 1999: 40–4.
Note: This is controversial, but recent randomised trials and a Cochrane review support the use
of prednis(ol) one. No good evidence for antiviral drugs, but low-grade evidence for benefit if 2 Talley NJ, O’Connor S. Clinical Examination (5th edn). Sydney: Churchill Livingstone,
combining with a corticosteroid. 2005: 345–6.

Patient education and reassurance 3 Wolfe N, Mahant N, Morris J, Fung V. Tremor: how to treat. Australian Doctor, 29 June
2007: 29.
Adhesive patch or tape over eye if corneal exposure (e.g. windy or dusty conditions, during
sleep) 4 Silver D. Impact of functional age on the use of dopamine agonists in patients with
Parkinson disease. Neurologist, 2006; 12: 214–23.
Artificial tears if eye is dry and at bedtime
 5 Selby G, Herkes G. Parkinson’s disease. In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 395–8. All triads show a chronic onset unless indicated by an asterisk (acute onset).

6 Beran R. Parkinson disease: Part 1. Update. Medical Observer, 26 September 2008. If you see this combination of signs: Consider:
7 Barton S et al. Clinical Evidence (Issue 5). London: BMJ Publishing Group, 2001: 906– Charcot triad:
13. dysarthria + intention tremor + nystagmus → cerebellar disease
(typical of MS)
8 Parkinson disease [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed January 2020. visual disturbance (blurred or transient loss) + → multiple sclerosis
weakness in limbs ± paraesthesia in limbs
9 Beran R. Parkinson disease: Part 2. Update. Medical Observer, 3 October 2008.
Note: There are many combinations of MS (Charcot has
10 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines historical interest).
Handbook Ltd, 2018: 744–6. → Parkinson disease
rigidity + bradykinesia + resting tremor
11 Butler E. Neurology Update 2008. Melbourne: Proceedings of Monash University Medical → essential tremor
tremor (postural or action) + head tremor + absence of
School Update Course, 2008: 145–50.
Parkinsonian features
12 Beran R. Multiple sclerosis: Part 1. Update. Medical Observer, 30 October 2009. → myasthenia gravis
fatiguable and weakness of eyelids and eye
13 Polman CH et al. Diagnostic criteria for multiple sclerosis: 2005 revisions to the movements + limbs + bulbar muscles (speech and
‘McDonald Criteria’. Ann Neurol, 2005; 58: 840–6. swallowing)

ascending weakness of limbs + of face + areflexia* → Guillain–Barré

14 McLeod JR. Multiple sclerosis. In: MIMS Disease Index (2nd edn). Sydney: IMS syndrome (GBS)
Publishing, 1996: 321–3.
(episodic) vertigo + tinnitus + hearing loss* → Ménière syndrome
15 Barton S et al. Clinical Evidence (Issue 5). London: BMJ Publishing Group, 2001: 894–
904. dementia + myoclonus + ataxia → Creutzfeldt–Jakob
disease
16 Beran R. Multiple sclerosis: Part 2. Update. Medical Observer, 6 November 2009.
drowsiness + vomiting + headache (waking) → ↑ intracerebral
17 Kavia R et al. Randomised controlled trial of cannabis based medicine (CBM, Stativex®) pressure
to treat detrusor overactivity in multiple sclerosis. Neurourol Urodyn, 2004; 23(5/6): 607. enophthalmos + meiosis + ptosis ± anhydrosis → Horner syndrome

18 Pollard J. Neuropathy, peripheral. In: MIMS Disease Index (2nd edn). Sydney: IMS blank spell + lip-smacking (or similar automation) + → complex partial
Publishing, 1996: 346. olfactory/gustatory hallucination seizure
19 Beran R. Peripheral neuropathy: Part 2. Update. Medical Observer, 26 June 2009. gradual spread (Jacksonian march) of focal jerking → simple partial
(mouth, arm or leg) or sensory disturbance or (rarely) seizure
20 Darveniza P. Myasthenia gravis. In: MIMS Disease Index (2nd edn). Sydney: IMS
visual field disturbance
Publishing, 1996: 324–6.
↑ intracranial pressure +/or focal signs +/or epilepsy → cerebral tumour
21 Gagyor I et al. Antiviral treatment for Bell’s palsy. Cochrane Syst Rev, 2015 Nov 9; (11):
CD001869. dysphagia + dysphonia/dysarthria + spastic tongue → pseudobulbar
palsy
Page 231
recurrent: headache (often unilateral) + nausea (± → migraine with aura
Diagnostic triads of neurological dilemmas vomiting) + visual aura* (formerly ‘classical

recurrent: severe retro-orbital headache + rhinorrhoea
+ lacrimation*
instantaneous: headache ± vomiting ± neck stiffness
headache + visual obscurations + papilloedema (often
in obese young female)
acute and transient: amaurosis fugax or dysphasia or
hemiplegia*
typical facies (temporalis atropy and frontal balding) +
muscle weakness esp. hands (± myotonia) + cataracts
ataxias + ophthalmoplegia + areflexia*
vertigo + provoked by movement (especially rolling in
bed) + Hallpike test +ve
UMN signs + LMN signs + fasciculations
leg weakness + ataxic gait + clumsiness (appears
about 12 years)
limb weakness + flaccid paralysis (day after exercise in
a young person)
migraine’) Page 232
→ cluster headache
→ subarachnoid
haemorrhage until 23 Genetic conditions
disproven
→ benign intracranial
hypertension
→ TIA (carotid)
People love to oversimplify genetics, saying we have a ‘gene for cancer’ or a ‘gene for diabetes’.
But the fact is, genes determine only so much. Identical twins have identical genomes, yet one
→ dystrophia may develop juvenile diabetes and the other typically doesn’t. Understanding the role of genes
myotonica (myotonic should help pinpoint environmental factors ... The genome is a history book showing the entire 6
dystrophy) billion-member human species traces back 7000 generations to a tiny founding population of
some 60 000 people. Our species has only a modest amount of genetic variation—the DNA of
→ Miller–Fisher any two humans is 99.9% identical.
variant of GBS
ERIC LANDER, HUMAN GENOME PROJECT, 20001
→ BPPV
The family doctor has an important role to play in the exciting and rapidly expanding world of
medical genetics. The role includes routine diagnosis, early detection, and community and ethical
→ motor neurone
guidance. Virtually all of the three billion nucleotides of the human genome have been
disease
sequenced and the knowledge of their organisation into the known 30 000–35 000 functional
→ Friedreich ataxia units or genes continues to become more sophisticated.2
The genome project has commenced mapping out ‘single nucleotide polymorphisms’ (SNPs) as
→ familial periodic signposts throughout the genome to assist in locating disease-associated genes and studying
paralysis variations between individuals.3 Any two unrelated individuals differ by one base per every
thousand or so—these as SNPs—and it is believed that SNPs contribute to the risk of common
disease rather than directly cause disease. If we carry the wrong set of SNPs, we can be
predisposed to various diseases.
Genetic testing is now available for many common hereditary disorders, such as the HFE genes
for haemochromatosis, presymptomatic DNA tests are available for the hereditary neurological
disorders, such as Huntington disease, and predictive DNA testing is available for some forms of
hereditary cancer, such as breast and colon cancer, and in the future for cardiovascular disease
and diabetes.4 Also in the future, pharmacogenetics, which predicts genetically determined
responses to pharmaceuticals, will greatly assist rational prescribing and minimise drug toxicity
and adverse effects. Gene therapy is a futuristic treatment modality.5
An important development in gene expression has been advances in DNA technology, with the
detection of fetal DNA in maternal plasma, thus allowing an excellent screening test for Down
syndrome.6
Epigenetics
Epigenetics, meaning ‘on top of’ traditional genetic inheritance, is a study of changes in genetic
expression or cellular phenotype caused by mechanisms other than changes in the DNA
sequence. These factors, which include environment, lifestyle, nutrition and psychosocial
influences, can influence the outcomes of chronic illness such as cancer, diabetes, autoimmune
disorders and ageing. The incurred changes are heritable. This is an expanding development.
Prevalence of genetic disease7,8
The global prevalence of single gene (monogenetic) disorders is estimated to be 10 per 1000
population. Autosomal dominant conditions account for about 2% while recessive conditions 1.5
per 1000. Estimates of other conditions are X-linked recessive 6% and congenital malformations
20%. Genetic disorders may also be multifactorial or polygenic (e.g. hypertension, diabetes,
asthma), whereby inheritance does not adhere to the simpler patterns of Mendelian disease.
Chromosomal disorders occur in about 1% of the general population, in 8% of stillbirths and in
close to 50% of spontaneously aborted fetuses.
Page 233
Key facts and checkpoints
All people carry a small number of recessive genes, which are carried
asymptomatically.
The background risk that any couple will bear a child with a birth defect is about
4%. This risk is doubled for a first-cousin (consanguineous) couple.9
Although the majority of cancers are not inherited, some people carry inherited
genetic mutations for certain cancers, notably breast and ovarian (linked),
colorectal and others on a lesser scale, such as prostate cancer and melanoma.
GPs should look out for a family history of cancer, including the number of people
with cancer on both sides of the family, the type of cancer and the age and onset
of primary cancers.
A GP caring for 1000 patients would expect to have 15–17 patients with a
hereditary cancer predisposition.
As genetic testing becomes more accessible it is prudent to be aware of the
psychological consequences to patients of predictive or presymptomatic testing.
Specialised genetic counselling is advisable.
Carrier screening is now widely used for thalassaemia, Tay–Sachs disorder and
cystic fibrosis.
Prenatal screening and testing for genetic disorders is also a reality, especially
for Down syndrome, fetal abnormalities and the haemoglobinopathies. Once
again, careful selection, screening and counselling is important.
Genetic services and familial cancer clinics provide an excellent service for
referral, especially for genetic counselling expertise and advice about appropriate
services and genetic testing.
Pharmacogenetics and gene therapy are the future hope for targeted treatments
based on a person’s genetic profile.
The spectrum of genetic disorders
The list of inherited disorders continues to grow as evidence supports intuition that certain
conditions are hereditary. It is important for the family doctor to be aware of this potential. We
are familiar with the more common classic disorders, such as cystic fibrosis, thalassaemia, Down
syndrome and haemochromatosis, but it is incumbent on us to be conversant with the genetic
basis of diseases such as cancer, particularly breast, ovarian and bowel cancer, in addition to the
childhood chromosomal/microdeletion syndromes, various inborn errors of metabolism and the
ever-emerging rare mutations, such as the mitochondrial disorders.
Genetic inheritance can be broadly grouped as four types:
single gene inheritance, e.g. cystic fibrosis
multifactoral, e.g. diabetes, CAD
chromosomal abnormalities, e.g. Down syndrome
mitochondrial, e.g. MELAS syndrome
Inheritance can also be considered as autosomal dominant (AD), autosomal recessive (AR) or
sex linked (XL), e.g. haemophilia, red-green colour blindness.
A general classification of inherited genetic disorders is outlined in TABLE 23.1 . However,
many other disorders are not included.
Page 234
Table 23.1 An overview (classification) of significant genetic
disorders
Specific important genetic disorders
Haemochromatosis
Cystic fibrosis G6PD deficiency (favism)
Neurological disorders (see CHAPTER 22) Galactosaemia
Inherited childhood-onset neurological disorders Bleeding disorders(see CHAPTER 29 )
Duchenne muscular dystrophy Haemophilia A and B
Familial periodic paralysis von Willebrand disease
Myotonic dystrophy Inherited thrombocytopenia
Neurofibromatosis Hereditary haemorrhagic telangiectasia
Spinal muscular atrophy Thrombophilia (see CHAPTER 123)
Tay–Sachs disease Factor V Leiden gene mutation
Phenylketonuria Prothrombin gene mutation
Tourette syndrome Protein C deficiency
Inherited adult-onset neurological disorders Protein S deficiency
Creutzfeldt–Jakob and other prion disorders Antithrombin deficiency
Familial Alzheimer disease Chromosomal microdeletion syndromes (childhood expression)
Familial epilepsy Down syndrome (Trisomy 21)
Familial motor neurone disease Edward syndrome (Trisomy 18)
Friedreich ataxia Patau syndrome (Trisomy 13)
Hereditary peripheral neuropathies (Charcot–Marie–Tooth disease) Fragile X syndrome
Hereditary spastic paralysis Prader–Willi syndrome
Huntington disease Williams syndrome
Mitochondrial disorders Marfan syndrome
Muscular dystrophies (various) Noonan syndrome
Parkinson disease of early onset (complex) Angelman syndrome (complex)
Retinitis pigmentosa Progeria
Spinocerebellar ataxias CHARGE syndrome (mutation)
Wilson disease Achondroplasia
Mental health Sex chromosome abnormalities
Schizophrenia, bipolar disorder, major depression Klinefelter syndrome
Childhood: ADHD, autism spectrum disorder, Tourette syndrome Jacob syndrome
Hereditary haemoglobinopathies and haemolytic disorders Turner syndrome
Thalassaemia α and β Intersex states
Sickle-cell disorder Mixed gonadal dysgenesis
Hereditary spherocytosis
 Ovotesticular disorder DSD An example including the use of symbols is shown in FIGURE 23.1 .
46 XX DSD (androgenised females)
Page 235
46 XY DSD (underandrogenised males)
Congenital adrenal hyperplasia
Developmental delay and intellectual disability
Chromosomal microdeletion syndromes (majority above)
Autism spectrum disorder (uncertain)
Fetal alcohol spectrum disorder
Cardiovascular conditions
Sudden arrhythmic/cardiac death syndrome
Familial hypertrophic cardiomyopathies
Familial hyperlipoproteinaemia/hypercholesterolaemia
Familial cancer
Features of breast–ovarian cancer syndrome
Colorectal cancer
Other cancers where family history is important
Other inherited conditions—unclassified
Diabetes (mixed)
Gaucher disease
Glycogen storage disease (liver glycogenosis)
Polycystic kidney disease
Skin disorders (e.g. psoriasis, atopic dermatitis, hyperhidrosis) FIGURE 23.1 Genogram: illustration of a family tree for an inherited disorder

The porphyrias
Tuberous sclerosis
Specific important genetic disorders
Pharmacogenomics—drug response with inherited genes
Haemochromatosis
Hereditary haemochromatosis (HHC), which is a disorder of iron overload, is the most common
The genogram serious single gene genetic disorder in our population.

It is a common condition in which the total body iron concentration is increased to 20–60 g
The genogram is a valuable pedigree chart that usually covers at least three generations of a
(normal 4 g). The excess iron is deposited in and can damage several organs:
family tree. It is a simple and disciplined means of gathering data about an individual couple or
family to determine inheritance patterns. The data have to be gathered with tact and care. A liver—cirrhosis (10% develop cancer)
useful strategy is to encourage patients to develop their own family genogram using charts as
templates. pancreas—‘bronze’ diabetes
 skin—bronze or leaden grey colour Increased serum ferritin level: >200 mcg/L (F); >300 mcg/L (M) (see CHAPTER 13 )

heart—restrictive cardiomyopathy CT, MRI or FerriScan—increased iron deposition in liver

pituitary—hypogonadism, impotence
joints—arthralgia (especially hands), chondrocalcinosis
It is usually hereditary (autosomal recessive = AR) or may be secondary to chronic haemolysis
and multiple transfusions.
Note: Hereditary haemochromatosis is the genetic condition; haemosiderosis is the secondary
condition.
9
Genetic profile
Being an autosomal recessive disorder, the patient must inherit two altered (mutated) copies of
the gene. It is a problem mainly affecting Caucasians, usually from middle age onwards. About 1
in 10 people are silent carriers of one mutated gene, while 1 in 200 are homozygous and are at
risk of developing haemochromatosis. These people can have it to a variable extent (the
penetrance factor), and some are asymptomatic while others have a serious problem. It is rare for
symptoms to manifest before the third decade.10
The two common identified specific mutations in the HFE gene are C282Y and H63D (another
is S65C):
homozygous C282Y—high risk for HHC
homozygous H63D—unlikely to develop clinical HHC
heterozygous C282Y and H63D—milder form of HHC
The key diagnostic sensitive markers are serum transferrin saturation and the serum ferritin level.
The serum iron level is not a good indicator. An elevated ferritin level is not diagnostic of HHC
but is the best serum marker of iron overload.
Clinical features
Most patients are asymptomatic but may have extreme lethargy, abdominal discomfort, signs of
chronic liver disease, polyuria and polydipsia, arthralgia, erectile dysfunction, loss of libido and
joint signs.
Liver biopsy (if liver function test enzymes are abnormal or ferritin >1000 mcg/L or
hepatomegaly)—FerriScan now preferred
Genetic studies: HFE gene—a C282Y and/or H63D mutation
Screen first-degree relatives (serum ferritin levels and serum transferrin saturation in older
relatives and genetic testing in younger ones). No need to screen before adulthood. HbEPG
gene for pregnant patient and partner.
Routine screening not recommended Page 236
Note: Full blood count (FBE) and erythrocyte sedimentation rate are normal.
Management
Refer for specialist care
Weekly venesection 500 mL (250 mg iron) until serum iron stores are normal (may take at
least 2 years), then every 3–4 months to keep serum ferritin level <100 mcg/L (usually
40–80 mcg/L), serum transferrin saturation <50% and iron levels normal
Desferrioxamine can be used but not as effective as venesection
Normal, healthy low-iron diet
Avoid or limit alcohol
Avoid iron tablets and vitamin C
Life expectancy is normal if treated before cirrhosis or diabetes develops
Cystic fibrosis10
Cystic fibrosis is the result of a defect in an ion channel protein, the cystic fibrosis
transmembrane receptor, which is found in the membranes of cells lining the exocrine ducts. The
defect affects the normal transport of chloride ions, leading to a decreased sodium and water
transfer, thus causing viscid secretions that affect the lungs, pancreas and gut.

Signs: look for hepatomegaly, very tanned skin, cardiac arrhythmias, joint swelling, testicular Genetic profile7,11
atrophy.
The most common AR paediatric illness
Diagnosis
About 1 in 2500 Caucasians affected
Increased serum transferrin saturation: >50% (F); >60% (M)
 About 1 in 20–25 are carriers There is currently no cure for cystic fibrosis; treatment is based on correcting the nutritional
deficiencies and minimising chest infections.
A mutation (δ-F508) of chromosome 7 is the most common of some 500 possible mutations of
the gene. This deletes a single phenylalanine residue from a 1480-amino acid chain.
Inherited childhood-onset neurological disorders
Clinical features
General: malaise, failure to thrive, exercise intolerance
Neurofibromatosis
NF1—peripheral neurofibromatosis (von Recklinghausen disorder)
Chronic respiratory problems: cough, recurrent pneumonia, bronchiectasis, sinus tenderness,
nasal polyps NF2—central type, bilateral acoustic neuromas (schwannomas) (rare)
Gastrointestinal: malabsorption, pale loose bulky stools, jaundice (pancreatic effect), The gene for NF1 is carried on chromosome 17 and NF2 on chromosome 22. Diagnostic genetic
meconium ileus (10% of newborn babies) testing is not routinely available. Diagnosis is by clinical examination.
Infertility in males (atrophy of vas deferens)
DxT light-brown skin patches + skin tumours + axillary freckles → NF1
Pancreatic insufficiency

Early mortality but improving survival rates (mean age now 31 years) Page 237

Clinical features of NF19

DxT failure to thrive + chronic cough + loose bowel actions → cystic fibrosis
Six or more café-au-lait spots (increasing with age)

Freckling in the axillary or inguinal regions

Diagnosis
Flesh-coloured cutaneous tumours (appear at puberty)
Screening for immunoreactive trypsin/trypsinogen in newborns detects 75%
Hypertension
Sweat test for elevated chloride and sodium levels
Eye features (iris hamartomas)
DNA testing for carriers identifies only the most common mutations (70–75%)
Learning difficulty
Treatment Musculoskeletal problems (e.g. scoliosis, fibrous dysplasia, pseudoarthrosis)
Early diagnosis and multidisciplinary team care are important Optic nerve gliomas
Physiotherapy for drainage of airway secretions
General rule
Hypertonic saline solution (by nebuliser) preceded by a bronchodilator
One-third asymptomatic, only have skin stigmata
Treatment of infections: therapeutic and prophylactic antibiotics
One-third minor problems, mainly cosmetic
Oral pancreatic enzyme replacement
One-third significant problems (e.g. neurological tumours)
Dietary manipulation
Management
Lung and liver transplantation are considerations
 No special treatment available Diagnosis (initiate at first suspicion)
Surgical excisions of neurofibromas as appropriate Elevated serum creatinine kinase level
Refer to a special clinic, including neurofibroma clinic Electromyography
Careful surveillance—report new symptoms Direct dystrophin gene testing
Yearly examination for children and adults, including blood pressure, neurological, skeletal Muscle biopsy
and ophthalmological examination
Treatment
Duchenne muscular dystrophy (DMD)
Counselling, especially genetic counselling, education, screening (especially mother)
DMD is a progressive proximal muscle weakness disorder with replacement of muscle by
connective tissue. Becker muscular dystrophy is a less severe variant. Early diagnosis is No specific treatment available; support; corticosteroids delay progression
important. First signs are delayed motor development, speech and language.
Spinal muscular atrophy (SMA)
Genetic profile
Claimed to be the leading genetic cause of infant death, SMA includes several types, all
DMD is an X-linked recessive condition. It is caused by a mutation in the gene coding for manifesting as progressive muscle wasting and leading to early death in the more severe types.
dystrophin, a protein found inside the muscle cell membrane.
Genetic profile
9
Clinical features
SMA is autosomal recessive and due to mutation in SMN1 gene on chromosome 5. Prevalence 1
Usually diagnosed from 2–5 years in 6000–10 000; carriers 1 in 40.

Weakness in hip and shoulder girdles Clinical features

Walking problems: delayed onset or starting in boys aged 3–7 Muscle weakness, poor tone and floppiness
Waddling gait, falls, difficulty standing and climbing steps Feeding difficulties and feeble cry in babies
Pseudohypertrophy of muscles, especially calves Weak swallowing, coughing and breathing
Most in wheelchair by age 10–12 Normal intelligence and sensory modalities
± Intellectual retardation/learning difficulties Diagnosis is by DNA screening at birth and EEG studies. There is no cure at present and
treatment is mainly supportive. Zolgensma gene therapy is given as a single IV injection into
Most die of respiratory problems by age 25 children <2 years before symptoms appear. Intrathecal injections of nusinersen are available.
Gower sign: patient uses ‘trick’ method by using hands to climb up his or her legs when rising
to an erect position from the floor Myotonic dystrophy
Genetic profile: AD disorder.
DxT male child + gait disorder + bulky calves → DMD
Clinical features
Page 238
Typically presents 20–30 years as myotonia (tonic muscle spasm), occasionally in
 childhood exceeded. Diet therapy must commence as soon as possible. Females who have been treated for
PKU need pre-pregnancy counselling and dietary management during pregnancy to prevent
Muscle weakness, esp. hands, legs, face, neck damage to the fetus by high phenylalanine levels.

Slow relaxation of hand grip

Tourette syndrome
‘Hatchet face’—long haggard look with atrophy of facial muscles
See CHAPTER 87 .
Frontal baldness in men
Tourette syndrome appears to be a genetic condition since a child of a person with TS has a 50%
Cataracts chance of developing it (possibly AD with variable penetrance).

Mental impairment
Inherited adult-onset neurological disorders11,12
Cardiac disturbances, e.g. cardiomyopathy
These disorders have the following common features.
Endocrine abnormalities, e.g. diabetes
They are serious and usually eventually fatal.
Investigation: electromyography.
Onset is in adulthood.
Treatment (to date) has no effect on the course of this disorder.
They are currently incurable.
Familial periodic paralysis They affect successive generations.
See CHAPTER 22 . Most are inherited from a parent in an autosomal dominant fashion.

Tay–Sachs disease Specific genetic testing is usually available.

About 1 in 25 Ashkenazi Jews is a carrier of Tay–Sachs disease (gangliosidosis), an AR disorder Examples of inherited adult-onset neurological conditions are:
caused by a total deficiency of hexosaminidase A resulting in an accumulation of gangliosides in
the brain. Huntington disease

The infantile form is fatal by age 3 or 4 with early progressive loss of motor skills, dementia, Creutzfeldt–Jakob disease and other prion diseases (see CHAPTER 22 )
blindness, macrocephaly and cherry-red retinal spots. The juvenile-onset form presents with
familial Alzheimer disease
dementia and ataxia, with death at age 10–15. The adult form has progression of neurological
symptoms following clumsiness in childhood and motor weakness in adolescence. Carrier testing familial epilepsy
is available and prenatal diagnosis is available.
familial motor neurone disease
Phenylketonuria (PKU) 10
Friedreich ataxia
This autosomal recessive disorder of the catabolism of the amino acid, phenylalanine, is caused
by a deficiency of phenylalanine hydroxylase activity, leading to an elevation of plasma hereditary peripheral neuropathies (Charcot–Marie–Tooth disease)
phenylalanine, which if untreated can cause intellectual disability (often very severe) and other
mitochondrial disorders
neurological symptoms, such as seizures. Neonatal screening for high blood phenylalanine levels
(the Guthrie test) is performed routinely. hereditary spastic paraparesis
Treatment aims to limit phenylalanine intake so that essential amino acid needs are met but not muscular dystrophies
 myotonic dystrophy There is no cure or specific treatment

spinal muscular atrophy Supportive treatment with agents such as haloperidol

spinocerebellar ataxias Genetic testing and counselling

A minority of these conditions are due primarily to a dominantly inherited genetic alteration
(mutation), e.g. Huntington disease, and are usually more accessible to genetic testing. Some
gene alterations (polymorphism) may be associated with a higher risk of developing certain
neurological conditions. Testing for polymorphisms is more complex. If concerned about a
hereditary basis, GPs should refer their patients with these disorders to a neurologist or a
neurogenetics clinic.
Huntington disease10
Genetic profile
Inherited as an AD disorder.
The responsible mutant gene has been located on the short arm of chromosome 4.
This is available, sensitive and important because offspring have a 1 in 2 risk and the onset may
be late—after child-bearing years. It is appropriate to refer to expert centres for those seeking it.
Of interest is that only 20% have undergone testing since it became available, indicating that
those at risk generally prefer the uncertainty of not knowing the reality.
Familial Alzheimer disease (FAD)
Early-onset familial Alzheimer disease (EoFAD), which accounts for less than 1% of all
Alzheimer disease, is defined as the presence of two or more affected people with onset age <65
years in more than one generation of a family, with postmortem pathologically proven Alzheimer
disease in at least one person. There are two forms of FAD: early onset (EoFAD <65 years) and
late onset (LoFAD). Mutations in any one of three different forms (alleles) of the susceptible
APOE gene are known to cause FAD.10,13

One genetic mutation accounts for the vast majority of cases, which means that there is an Parkinson disease
accurate diagnostic test.
Most cases are sporadic, and the majority of cases with a family history do not have a clear
Both sexes are equally affected. inheritance pattern and could be the result of several factors including a genetic predisposition or
simply a chance aggregation. Consider referral to a neurogenetics clinic for families with unusual
DxT chorea + abnormal behaviour + dementia + family history → features, such as familial aggregation and/or early-onset Parkinson disease.
Huntington disease
Motor neurone disease (MND) (amyotrophic lateral
Page 239

Clinical features
sclerosis)
Five to 10% of motor neurone disease is inherited, with an autosomal dominant inheritance
Insidious onset and progression of chorea
pattern. Inherited MND shows familial aggregation and an earlier age of onset than average (40s
Onset most often between 35 and 55 years or younger); otherwise clinical features are essentially the same as the sporadic form (see
CHAPTER 22 ). If more than one family member presents with MND consider referral to a
Mental changes—change in behaviour (can be as early as childhood or in very late life), neurogenetic clinic.
intellectual deterioration leading to dementia
Mitochondrial disorders
Family history present in the majority
Mitochondrial disease is usually caused by mutations of the genes or DNA. Since mitochondria
Motor symptoms: flicking movements of arms, lilting gait, facial grimacing, ataxia, dystonia are the ‘power plants of the cells’, disorders cannot convert food into energy so high energy
tissues such as muscle and the brain are particularly at risk. The variety of disorders include
Usually a fatal outcome 15–20 years from onset
neuromuscular diseases (referred to as mitochondrial myopathies), Leber hereditary optic
neuropathy, varieties of Parkinson disease, myoclonic epilepsy, chronic progressive external
Treatment ophthalmoplegia and the deadly MELAS syndrome (myopathy, encephalopathy, lactic acidosis
and stroke-like episodes). Suspected cases should be referred for diagnosis which includes
muscle testing. Treatment is supportive. Monozygotic twin 40 70
Dizygotic twin 10 20
The epilepsies
Source: Reproduced with permission from Harper PS. Practical Genetic Counselling. 3rd ed. Butterworth-Heinemann; 1988.

The epilepsies comprise a group of disorders with differing genetic components and the
inheritance or genetic contribution relates to each specific disorder. Further studies on this
subject are in progress. If there are two or more individuals in a family with epilepsy, referral for Hereditary haemoglobinopathies, haemolytic
advice about the nature and inheritance about their form of epilepsy may be appropriate.
disorders, and bleeding and clotting disorders10,15
Mental health The commonest haemoglobinopathies are the thalassaemias, which are caused by a deficiency in
the quality of globin chains, whereas other haemoglobinopathies are caused by structural
According to Nature Genetics Consortium, there are five significant inherited psychiatric variations in the globin chain. These conditions include HbS (sickle cell), HbC, HbD, HbE, HbO
disorders:14 and HbLepore.
schizophrenia Other inherited conditions that can cause haemolytic anaemia are those with a red cell membrane
defect and include hereditary spherocytosis, hereditary elliptocytosis and hereditary
bipolar disorder stomatocytosis.
major depressive disorder
Thalassaemia
attention deficit hyperactivity disorder (ADHD)
The thalassaemias, the most common human single-gene disorders in the world, are a group of
autism spectrum disorder hereditary disorders characterised by a defect in the synthesis of one or more of the globin chains
(α or β)—there are two of each (α2, β2). This causes defective haemoglobin synthesis leading to
Serious psychotic and mood disorders can run in families, especially schizophrenia and bipolar hypochromic microcytic anaemia. α-thalassaemia is usually seen in people of Asian origin while
disorder, which have a clear genetic component that appears to be complex and poorly β-thalassaemia is seen in certain ethnic groups from the Mediterranean, the Middle East, South-
understood (see TABLE 23.2 ). To date, no genes causing schizophrenia have been identified, East Asia and the Indian subcontinent. However, in our multicultural communities one cannot
but large regions on some chromosomes have been associated with schizophrenia. Individuals assume a person’s origins. It is recommended that all women of child-bearing age be screened
with a first-degree relative with bipolar disorder or purely depressive (unipolar) disorder have an for thalassaemia. The thalassaemias are described as ‘trait’ when there are laboratory features
increased risk of a mood disorder, but the genetics are not understood. Tourette syndrome is without clinical expression.
another psychological disorder that has a hereditary basis through an autosomal dominant gene
with variable expression (penetrance). Page 240
Genetic profile9
α-thalassaemia is usually due to the deletion of one or more of the four genes for α-globin, the
Table 23.2 Genetic risks (approximate) in schizophrenia and severity depending on the number of genes deleted: deletion of all four genes—α-thalassaemia
bipolar disorder (hydrops fetalis); of three genes—haemoglobin H disease, which results in lifelong anaemia of
mild-to-moderate degree; of one or two genes—a symptomless carrier.
Affected relative Schizophrenia (% risk) Bipolar (% risk)
In β-thalassaemia, the β-chains are produced in decreased quantity rather than having large
Nil (general population) 1 2–3 deletions. People who have two mutations (one in each β-globin gene) have β-thalassaemia
Parent 13 15 major.
Both parents 45 50 β-thalassaemia minor—a single mutation (heterozygous)—the carrier or trait state
Sibling 9 13
β-thalassaemia major—two mutations (homozygous)—the person who has the disorder
Sibling and one parent 15 20
If both parents are carriers, there is a 1 in 4 chance that their child will have the disorder.
Clinical features
Carriers are clinically asymptomatic and do not need treatment apart from counselling. Patients
with thalassaemia major present with symptoms of severe anaemia (haemolytic anaemia).
Without treatment, children with thalassaemia major are lethargic and inactive, show a failure to
thrive or to grow normally, and delayed puberty, hepatosplenomegaly and jaundice. Signs
usually appear after 6 months and death from cardiac failure used to be common but with regular
blood transfusions and iron-chelating treatment people can now live in good health.
DxT pallor + jaundice + hepatosplenomegaly → thalassaemia major
10
Diagnosis
FBE: in most carriers the mean corpuscular haemoglobin/mean corpuscular volume is low but
can be normal. There is usually mild hypochromic microcytic anaemia but this is severe with
the homozygous type.
Haemoglobin electrophoresis: measures relative amounts of normal adult haemoglobin (HbA)
and other variants (e.g. HbA2, HbF). This will detect most carriers.
Serum ferritin level: helps distinguish from iron deficiency, which has a similar blood film.
DNA analysis: for mutation detection (mainly used to detect or confirm carriers).
Treatment for thalassaemia major
Treatment is based on a regular blood transfusion schedule for anaemia. Avoid iron supplements.
Folate supplementation and a low-iron diet are advisable. Excess iron is removed by iron
chelation (e.g. desferrioxamine). Allogeneic bone marrow transplantation has been used with
success.16 Splenectomy may be appropriate. Page 241
Sickle-cell disorders
The most important abnormality in the haemoglobin (Hb) chain is sickle-cell haemoglobin
(HbS), which results from a single base mutation of adenine to thymine, leading to a substitution
of valine for glutamine at position 6 on the β-globin chain. The defective Hb causes the red cells
to become deformed in shape—‘sickled’. The sickled cells tend to flow poorly and clog the
microcirculation, resulting in hypoxia, which compounds the sickling. Such attacks, which result
in tissue infarction, are called ‘crises’. Sickling is precipitated by infection, hypoxia, dehydration,
cold and acidosis, and may complicate operations. The autosomal recessive disorder occurs
mainly in Africans (25% carry the gene), but it is also found in India, South-East Asia, the
Middle East and southern Europe.
Heterozygous state for HbS = sickle-cell trait
Homozygous state = sickle-cell anaemia/disease
Sickle-cell anaemia
This varies from being mild or asymptomatic to a severe haemolytic anaemia and recurrent
painful crises. It may present in children with anaemia and mild jaundice. Children may develop
digits of varying lengths from the hand-and-foot syndrome due to infarcts of small bones.
Features of infarctive sickle crises include:
bone pain (usually limb bones)
abdominal pain
chest—pleuritic pain
kidney—haematuria
spleen—painful infarcts
precipitated by cold, hypoxia, dehydration or infection
Hb electrophoresis is needed to confirm the diagnosis.
Long-term problems include chronic leg ulcers, susceptibility to infection, aseptic necrosis of
bone (especially head of femur), blindness and chronic kidney disease. The prognosis is variable.
Children in Africa often die within the first year of life. Infection is the commonest cause of
death.
Sickle-cell trait
People with this usually have no symptoms unless they are exposed to prolonged hypoxia, such
as anaesthesia and flying in non-pressurised aircraft. The disorder is protective against malaria.
Hereditary spherocytosis
This is the commonest cause of inherited haemolytic anaemia in northern Europeans. It is an
autosomal dominant disorder of variable severity, although in 25% of patients neither parent is
affected, suggesting spontaneous mutation in some instances. Jaundice may present at birth or be
delayed or occur not at all. Splenomegaly is a feature and splenectomy is considered to be the
treatment of choice in severe cases. Maintenance of folic acid levels is important.
Glucose-6-phosphate dehydrogenase deficiency
G6PD deficiency is a common disorder affecting over 400 million people worldwide. It is the
most common red cell enzyme defect that causes episodic haemolytic anaemia because of the Hereditary haemorrhagic telangiectasia
decreased ability of red blood cells to cope with oxidative stresses. It is an X-linked recessive
inherited disorder with a high prevalence among people of African, Mediterranean or Asian This is an autosomal dominant disorder of the development of vasculature. A strong family
ancestry. In some countries such as Malaysia there is a national screening program. history aids diagnosis.
The important clinical features are: Key features:
asymptomatic in many mucocutaneous telangiectasia (Osler–Weber–Rendu syndrome)
neonatal jaundice—infants at risk should be observed after delivery (at least 5 days) recurrent epistaxis in children and adolescents
episodic acute haemolytic anaemia—triggered by antioxidants and infections, and drugs, visceral arteriovenous malformations, e.g. GIT, lips
especially antimalarials, sulfonamides, nitrofurantoin, quinolones, traditional medicines,
vitamins C and K, high dose aspirin, fava (broad) beans and naphthalene (e.g. moth balls) diagnosis is clinical, aided by imaging to detect AVMs
There is no specific treatment. Known precipitants should be avoided. Avoid penicillin and
probenecid. Thrombophilia
Diagnosis is by G6PD assay and a blood film during an attack. This should be considered in patients with a past and/or family history of DVT or other
thrombotic episodes (see CHAPTER 122 ). There are several causes, including important
inherited factors, which are:
Galactosaemia10
factor V Leiden gene mutation (activated protein C resistance)
Galactosaemia is an inborn error of metabolism in which the body is unable to metabolise
galactose to glucose. There are three clinical syndromes caused by differing enzyme deficiencies, prothrombin gene mutation
one of which is galactose-1-phosphate uridyl transferase, which causes the classic syndrome. It is
an autosomal recessive disorder with an incidence of about 1 in 60 000 births. As lactose is the protein C deficiency
major source of galactose, the infant becomes anorexic and jaundiced within a few days or weeks
of taking breast milk or lactose-containing formula. It can be rapidly fatal. Management is with a protein S deficiency
galactose (mainly lactose)-free formula such as soy with added calcium and vitamins. Page 242
antithrombin deficiency
Bleeding disorders It is important to be aware of these factors, especially in people with a past history of
unexplained thrombotic episodes. Prescribing the oral contraceptive pill (OCP) is an issue but
In inherited bleeding deficiency disorders, there are deficiencies of vital factors (see preliminary screening for thrombophilias is not recommended. In factor V Leiden, the most
CHAPTER 29 ). The common significant disorders are: common factor in this group, there is a 35-fold increased risk of thrombosis for those taking the
OCP.
haemophilia A (factor VIII deficiency)—X-linked recessive

haemophilia B (factor IX deficiency)—X-linked recessive Chromosomal/microdeletion syndromes

von Willebrand disease (deficiency of factor VIII:C + defective platelet factor)—autosomal (childhood expression)10
dominant
The following disorders, whose clinical features manifest in children, present with
Others to consider are: developmental and intellectual disability.
hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu disease)
Down syndrome17
inherited thrombocytopenia
Down syndrome (trisomy 21) is based on typical facial features (flat facies, slanting eyes, Genetic counselling for parents
prominent epicanthic folds, small ears), hypotonia, intellectual disability and a single palmar
crease. Page 243

CHARGE syndrome
DxT typical facies + hypotonia + single palmar crease → Down syndrome
Coloboma, heart abnormalities, choanal atresia, development retardation, GU anomalies, ear
abnormalities

Facts Caused by a gene mutation on chromosome 8

95% have extra chromosome of maternal origin (trisomy 21)

Edward syndrome10
Remainder due to either unbalances, translocations or mosaicism
Trisomy 18
Prenatal screening tests include early ultrasound (nuchal translucency) and maternal serum
screening in first trimester (serum maternal and fetal DNA). Karyotyping of chorionic villus Clinical features
sampling on amniocytes for pregnancies at risk is available.
These include:
Prevalence 1 in 650 live births
incidence 1 in 2000 live births (approx.)
Associated disorders
microcephaly
Seizures (usually later onset)
facial abnormalities, e.g. cleft lip/palate
Impaired hearing
malformations of major organs, e.g. heart
Leukaemia
malformations of hands and feet—clenched hand posture
Hypothyroidism
neural tube defect
Congenital anomalies (e.g. heart, duodenal atresia, Hirschsprung, TOF)
Prognosis is poor—about one-third die in first month, <10% live beyond 12 months.
Alzheimer-like dementia (fourth–fifth decade)
Prenatal diagnosis is available.
Atlantoaxial instability
Patau syndrome10
Coeliac disease
Trisomy 13
Diabetes
Clinical features
Management
These include:
Assess child’s capabilities
incidence 1 in 7000 (approx.)
Refer to agencies for assessment (e.g. hearing, vision, developmental disability unit)
microcephaly
Advise on sexuality, especially for females (i.e. menstrual management, contraception) as
fertility must be presumed brain and heart malformation
 cleft lip/palate Autism or autistic-like behaviour

polydactyly Attention deficit in 10% (with or without hyperactivity)

neural tube defect Seizures (20%)

Prognosis is poor—50% die within first month. Connective tissue abnormalities

Learning disability and speech delay

Fragile X syndrome (FXS)17
Coordination difficulty
FXS presents as a classic physical phenotype with large prominent ears, long narrow face,
macro-orchidism and intellectual disability. It is the most common inherited cause known of Primary ovarian insufficiency
developmental disability and should always be considered. The cause is the result of an increase
in the size of a trinucleotide repeat in the FMR-I gene on the X chromosome (the number of Late-onset tremor/ataxia syndrome
sequences determines carrier or full mutant status). Any individual with significant development
delay should be tested for FXS. Management

DxT characteristic facies + intellectual disability + large testes → FXS Careful genetic appraisal and counselling

Assessment of child’s capabilities

Facts Multidisciplinary assessment, including developmental disability unit

M:F ratio 2:1 Referral for integration of speech and language therapy, special education, behaviour
management
Prevalence of full mutation 1 in 4000
Pharmacological treatment of any epilepsy, or attention or mood behaviour disorders
Variable spectrum of characteristic features, making detection difficult in some cases
Medications may determine whether the child remains in the community or not
1 in 250 are pre-mutation carriers

Family history of intellectual disability

Prader–Willi syndrome
This uncommon disorder (1 in 10 000–15 000) has classic features, especially a bizarre appetite
Affects all ethnic groups
and eating habits, of which the GP should be aware. It is probable that there are many
Females may appear normal but may be affected undiagnosed cases in the community. The most common cause is a deletion of the short arm of
chromosome 15.
Diagnosis DxT neonatal hypotonia + failure to thrive + obesity (later) → Prader–Willi
syndrome
Cytogenetic testing (karyotyping)

DNA test (specific for full mutation as well as carriers) Page 244
Clinical features
18
Associated disorders
Hypotonic infants with weak suction and failure to thrive, then voracious appetite causing
Intellectual disability (IQ <70) morbid obesity

Usually manifests at 3 years

 Intellectual disability Prevalence about 5 per 100 000

Narrow forehead and turned-down mouth No specific laboratory test to date

Small hands and feet Clinical features

Hypogonadism Disproportionally tall and thin

Management Long digits—arachnodactyly

Early diagnosis and referral Kyphoscoliosis

Multidisciplinary approach Joint laxity (e.g. genu recurvatum)

Expert dietetic control Myopia and ectopic ocular lens

With proper care and support, longevity into the eighth decade is a reality.17 High arched palate

Aortic dilatation and dissection

Williams syndrome
Mitral valve prolapse
Williams syndrome (idiopathic hypercalcaemia or elfin face syndrome) is due to a microdeletion
on chromosome 7, a deletion in the elastin gene.
Management
Children have a distinctive elfin facial appearance, mild pre- and postnatal growth retardation,
Needs surveillance of eyes, heart and thoracic aorta
mild microcephaly and mild-to-moderate developmental delay. In the first 2 years of life, feeding
problems, vomiting, irritability, hyperacusis, constipation and failure to thrive may lead to Echocardiography, possibly aortic root dilatation
presentation, but children are rarely diagnosed at this stage.
Long-term beta blockade therapy reduces rate of dilatation
DxT ‘elfin’ face + intellectual disability + aortic stenosis → Williams
syndrome Consider prophylactic cardiovascular surgery

Genetic counselling for the family

Marfan syndrome10
Noonan syndrome17
This is a systemic connective tissue disorder characterised by abnormalities of the skeletal,
cardiovascular and ocular systems. It has variable expressions and is a potentially lethal disorder. This is an AD disorder with mutation of chromosome 11. It has been described as a male Turner
If untreated, death in the 30s and 40s is common. syndrome but affects both sexes.

DxT tall stature + dislocated lens and myopia + aortic root dilatation →
DxT facies + short stature + pulmonary stenosis → Noonan syndrome
Marfan syndrome

Genetic profile Clinical features17

Mutations in the fibrillin gene on chromosome 15 Characteristic facies—down-slanting palpebral fissures, widespread eyes, low-set ears ± ptosis

Autosomal dominant Short stature

 Pulmonary valve stenosis Sporadic mutation of LMA gene that codes for a protein leads to early cell death.

Webbed neck Accelerated ageing—manifests in early childhood causing premature death (median age 12
years) from vascular disease. No known treatment.
Failure to thrive, usually mild

Abnormalities of cardiac conduction and rhythm Sex chromosome abnormalities

± Intellectual disability
Klinefelter syndrome10
Treatment
This is due to an extra X chromosome, resulting in a male phenotype and occurring in 1 in 800
Refer to genetic service live births. Approximately 2 out of 3 are never recognised.

Evaluation of cardiac status DxT lanky men + small testes + infertility → Klinefelter syndrome
Consider vision, hearing, clotting status, possible epilepsy

Angelman syndrome Genetic profile

Genetic profile 47, XXY genotype

Abnormal chromosome 15 The extra X chromosome is usually of maternal origin

About 30 or more variants of the disorder

Clinical features (a wide spectrum)
Hand flapping Clinical features

‘Puppet’-like ataxia Marked variation but usually:

Frequent laughter/smiling tall men with long limbs

Microcephaly by age 2 years small firm testes ≤2 cm (10 mL)

Developmental delay infertility (azoospermia)

Speech impairment There may be:

Seizures sparse facial hair

Cannot live independently reduced libido

Diagnosis based on clinical features and genetic studies. Page 245

learning difficulties, especially reading

Treatment with minocycline is promising. intellectual ability may range from normal to disability

gynaecomastia
Progeria
increased risk of DVT, breast cancer and diabetes (screening indicated)
Diagnosis These are uncommon chromosomal disorders of sexual development (DSD) in which the
appearance of the external genitalia is either ambiguous or at variance with the individual’s
Increased gonadotrophin, low to normal testosterone chromosomal sex. Intersex is an umbrella term to describe a wide range of natural body
variations. The inappropriate term ‘hermaphrodite’ should be avoided.
Treatment
The conditions include:
Transdermal testosterone
mixed gonadal dysgenesis
Turner syndrome (gonadal dysgenesis) ovotesticular disorder DSD

This is due to only one X chromosome, occurring in 1 in 4000 live female newborns; 99% of 46, XX DSD (androgenised females)
conceptions are miscarried.16
46, XY DSD (underandrogenised males)
DxT short stature + webbed neck + facies → Turner syndrome The latter may be caused by inadequate production of androgen or inadequate response to
androgen, which includes the ‘androgen insensitivity syndrome’. This syndrome, made
prominent through athletes with a male genotype but female phenotype, results from a mutation
Genetic profile of the gene encoding the androgen receptor.

Page 246
45 chromosomes of XO karyotype (typical Turner karyotype in 50% of cases)
Congenital adrenal hyperplasia
Many are mosaics (e.g. 45X/46XX chromosomes)
See CHAPTER 14 .
Phenotypes vary

Clinical features of typical XO karyotype Developmental delay and intellectual disability

Short stature—average adult height 143 cm Chromosomal microdeletion syndromes (preceding chromosomal conditions; some such as
FXS and tuberous sclerosis show features of ASD)
Primary amenorrhoea in XO patient; infertility
Autism spectrum disorder (ASD): if diagnosed, refer to paediatrician for chromosomal
Webbing of neck microarray investigation.
Typical facies: micrognathia, low hairline Fetal alcohol spectrum disorder (FASD)
Lymphoedema of extremities
Fetal alcohol spectrum disorder (FASD)19
Cardiac defects (e.g. coarctation of aorta)
FAS is the most severe form of the fetal alcohol spectrum disorders. These are caused by the
Mental deficiency is rare. tetrogenic effects of alcohol (not a chromosomal abnormality) and is estimated to involve 2 in
1000 live births. The phenotype varies with the dosage and gestational timing of the alcohol
Treatment exposure.19 Caution is needed not to overdiagnose.

Hormone-based (e.g. growth hormone, hormone replacement therapy) DxT abnormal facies + growth retardation + microcephaly + history of
alcohol intake during pregnancy → fetal alcohol spectrum disorder
Intersex states
Clinical features of FASD
See FIGURE 23.2 . upturned nose
FIGURE 23.2 Fetal alcohol syndrome: facial features
Source: Rick’s Photography/Shutterstock
Markedly underweight until puberty
Learning difficulties
Microcephaly
Characteristic facies (needs 2 of *)
shortened palpebral fissures*
long, smooth featureless philtrum*
thin upper lip*
Hyperactivity
Congenital heart disease often seen
Skeletal abnormalities
Diagnosis based on alcohol history in pregnancy.
Management
Early diagnosis and intervention
By preventive strategies with community education about the harmful effects of drinking,
especially in early pregnancy
Counselling; addressing environmental and behavioural factors
Other types of hereditary disorders
The many examples include familial hypercholesterolaemia (AD) and the AR disorders for
which genetic testing is available, namely Gaucher disease, glycogen storage disease,
phenylketonuria, skin disorders, polycystic kidney disease, galactosaemia, homocystinuria, the
porphyrias and the mitochondrial disorders.
Single gene cardiac disorders
Includes:
cardiomyopathies
arrhythmia syndromes, e.g. long QT syndrome
sudden cardiac death families
Congenital long QT syndrome
This is an autosomal dominant condition with predisposition to ventricular arrhythmias,
syncopal/fainting spells and sudden death, particularly during exercise. Confirm or exclude by
ECG when suspected—interval 0.5–0.7 seconds. Management includes sports restrictions, beta
blockers and pacemaker or AICD.
Page 247
 Familial hypertrophic cardiomyopathy hereditary breast–ovarian cancer syndrome (BRCA1 and BRCA2 genes)

This is an AD disorder with several genetic mutations. It is the most common cause of sudden hereditary non-polyposis colorectal cancer (HNPCC)
cardiac death among athletes.
familial adenomatous polyposis (FAP)
Clinical features
Features of breast–ovarian cancer syndrome9,10
Fatigue
Mutations in either of the two genes—BRCA1 and BRCA2—result in a strong predisposition
Exertional dyspnoea and chest pain for both breast and ovarian cancer
Palpitations Mutations present in about 1 in 800 of the general population (male and female), who are
carriers
Dizziness/syncope
Dominant inheritance
Diagnosis by ECG (LV hypertrophy) and doppler echocardiography.
The risk of developing breast cancer is 10-fold and 40–80% of cases occur before the age of
Insertion of AICD may prevent sudden death. 70 years22

Familial hyperlipoproteinaemia20 The prognosis in these women is the same as for sporadic cases

There are several types of genetic disorder of lipid metabolism including the better-known
familial hypercholesterolaemia and familial combined hyperlipidaemia. The former is identified
by elevated cholesterol, corneal arcus juvenalis, tendon xanthomas in the patient or their first-
and second-degree relatives and also by a DNA mutation. Homozygous patients present with
atherosclerosis disease in childhood and early death from myocardial infarction. Heterozygotes
may develop the disorder in their 30s or 40s.
This is common, being 1 in 500 Caucasians, and 1 in 70 in Lebanese and Afrikaners. Eighty per
cent are undiagnosed and missing out on preventive treatments. GPs have an important role in
screening people with premature ischaemic heart disease to look for phenotype characteristics of
the condition.
Familial cancer21
Early age of onset of breast cancer
Male breast cancer (6% in males with BRCA2 gene mutation)
Coexistence of ovarian and breast cancer in the same family
Carriers of mutations may be at an increased risk of prostate cancer, pancreatic cancer and
colorectal cancer, although this is controversial for the latter two
Risk indicators for familial breast–ovarian cancer
Two first-degree or second-degree relatives on one side of the family with cancer
Individuals with age of onset of cancer <50 years

The majority of cancer is not inherited; rather it is acquired because of genetic mutations in Individuals with bilateral or multifocal breast cancer
several genes of a cell in a specific tissue during an individual’s lifetime. Twenty to twenty-five
Individuals with ovarian cancer
individuals in a population of 1000 have a family history of bowel or breast cancer.8
Breast cancer in a male relative
However, some people carry inherited genetic mutations from conception that predispose them
to developing certain cancers, particularly colorectal, breast and ovarian cancer, at a relatively Jewish ancestry
young age. Up to 5% of some cancers are considered familial and the genetic basis of some of
these is now understood. Most are AD with 50% of offspring being affected.
Colorectal cancer21
The three most significant familial cancer inherited susceptibility syndromes are:
Both sexes have a risk of approximately 5% of developing bowel cancer in their lifetime. In
some this risk is increased due to an inherited predisposition. onset of bowel cancer before 50 years

The two key disorders are HNPCC and FAP. a relative with endometrial cancer or ovarian cancer

Page 248 For FAP:

Lynch syndrome (hereditary non-polyposis colorectal cancer)
A relative with bowel cancer with polyposis
Caused by a defect in one of the genes responsible for DNA mismatch repair
Individuals with multiple polyposis
Affects 1 in 1000 individuals
Other cancers where family history is significant
Autosomal dominant
Melanoma: an inherited mutation in certain genes (e.g. BRAF gene) is considered to be
Early age of onset involved in up to 5% of melanomas. Having a first-degree relative affected almost doubles a
person’s risk.
Increased risk of certain extracolonic cancers, including endometrial, stomach, ovary and
kidney tract cancers Prostate: family history is a risk factor; some genes (e.g. BRAC1 and BRAC2) are susceptible.
Refer if a significant family history.
Screening should occur every 1–2 years from 25 years of age or 5 years earlier than affected
family member developed it Several other cancers can develop as a mutation, e.g. stomach, pancreas, kidney, thyroid,
uterus.
Familial adenomatous polyposis
Less common than HNPCC; affects about 1 in 10 000
The role of the GP in familial cancer21
The GP has an important role in identifying potential high-risk patients and families and in
Caused by a mutation in the APC gene
addressing their concerns.
Usually hundreds or thousands of polyps
Take a family history and involve at least three generations.
Eventually almost 100% of cases develop colon cancer without prophylactic colectomy
Map a family tree: include any diagnosed breast, ovarian or colorectal cancers in any relative
Median age of diagnosis 40 years and any type of cancer in first- or second-degree relatives on either side of the family.

Small increased risk of other cancers (e.g. thyroid, cerebral) Record the age of onset and site of cancer in first-degree relatives.

Screening should occur annually from between 12–15 and 30–35 years of age, and then every Confirm reports of cancer from medical records.
3 years
Assess risk (high, low or intermediate) using guidelines from your country’s national cancer
guidelines, e.g. the NHMRC guidelines in Australia.
Individuals at risk
Reassure low-risk patients but provide general preventive and screening guidelines.
For Lynch syndrome (HNPCC):
Refer all patients at potentially high risk to a familial cancer clinic.
Three or more close relatives with bowel cancer
Services at these clinics involve:
Two or more close relatives with bowel cancer and:
risk assessment
more than one bowel cancer in same relative
genetic testing
 counselling, including pre- and post-testing commonest) and erythropoietic protoporphyria, which are caused by deficiencies of the third,
fifth and eighth enzymes, respectively, of the haem biosynthesis pathway. Their clinical features
surveillance advice are quite different.

Management is based on early detection and potential prophylactic methods, for example: Acute intermittent porphyria
for breast cancer—regular imaging and clinical examination This autosomal dominant disorder is the most serious of the porphyrias although it remains
clinically silent in the majority of patients who carry the trait. It is due to a deficiency of
for ovarian cancer—transvaginal ultrasound and serum CA-125 detection
porphobilinogen (PBG) deaminase.
for FAP and HNPCC—annual colonoscopy, faecal occult blood test
Clinical features
Patients at high risk will ask about prophylactic colectomy, mastectomy and oophorectomy, for
which there are reasonable indications, but it is necessary to refer to a cancer geneticist for expert Recurrent unexplained abdominal pain crises
evaluation before such decisions are made.
Usually young women (teens or 20s)

Other inherited conditions Recurrent psychiatric illnesses, abnormal behaviour

Acute peripheral or nervous system dysfunction (e.g. peripheral neuropathy, hypotonia)

Gaucher disease
PBG in urine during attack
Gaucher disease, which is due to a deficiency of the lysosomal enzyme glucocerebrosidase, leads
to anaemia and thrombocytopenia as a result primarily of hypersplenism. There is chronic bone Hyponatraemia
pain and ‘crises’ of bone pain. Consider it in children with fatigue, bone pain, delayed growth,
epistaxis, easy bruising and hepatosplenomegaly. Replacement enzyme therapy is available. Attacks precipitated by various drugs (e.g. anti-epileptics, alcohol, sulfonamides, barbiturates)

Page 249 DxT severe abdominal pain + abnormal illness behaviour + ‘red’ urine →
acute intermittent porphyria
Glycogen storage disease (liver glycogenoses)
This is a group of inherited disorders caused by a deficiency of one or more enzymes involved in
glycogen breakdown, leading to the deposition of abnormal amounts of glycogen in tissues,
Diagnosis
especially the liver. The best-known type is 1A (von Gierke disorder), an autosomal recessive Urine PBGs (high) and serum sodium (very low) during ‘attack’
disorder due to deficiency of glucose-6-phosphatase (G-6-P). It is seen in several ethnic groups.
It typically causes growth retardation, hepatomegaly, renomegaly, hypoglycaemia (can be Erythrocyte PBG deaminase testing to screen relatives
severe), lactic acidosis and hyperlipidaemia. Children have characteristic morphological features
—short, doll-like facies with fat cheeks, thin extremities and large abdomen (hepatomegaly). Treatment
Diagnosis is by abnormal plasma lactate and lipid levels, liver biopsy and recently by gene
Eliminate triggers and avoid ‘unsafe’ drugs
analysis for the G-6-P gene.
High-carbohydrate diet, glucose oral or IV for attacks
Treatment is aimed to prevent hypoglycaemia and lactic acidosis via frequent carbohydrate
feedings, such as uncooked cornstarch and overnight nasogastric glucose infusion. The prognosis IV haemetin (haemarginate)
is poor.
Tuberous sclerosis (epiloia)
The porphyrias
This is an autosomal dominant disorder due to mutations in one of two genes located on
The three most common porphyrias are acute intermittent porphyria, porphyria cutanea tarda (the
chromosomes 9 and 16. A feature is tube-like growths that affect multiple systems including the
brain.
DxT facial rash + intellectual disability + seizures → tuberous sclerosis
The above triad of features is classic but not applicable to all cases.
Predictive genetic testing
The Human Genetics Society of Australia strongly advises against predictive or presymptomatic
genetic testing of children for disease where there is no pre-emptive treatment in childhood. It
should only be carried out in children if an effective treatment or preventive strategy is available.
It raises issues of confidentiality, informed consent and harmful effects on self-esteem.10
Routine genetic testing is only advisable for high-risk individuals, such as those with a family
history.
The ethical issues for adults are also considerable and for the individual the decision is difficult
and requires considerable counselling via a clinical genetics service. This applies particularly to
those at risk of Huntington disease and other adult-onset neurodegenerative conditions for which
no preventive treatment exists.
Reproductive genetic screening23
The triple test is often used for subfertility screening. It tests for cystic fibrosis, fragile X
syndrome and spinal muscular atrophy. A survey by the Murdoch Children’s Research Institute
identified one in 20 carriers in a study of prospective parents. Page 250
Newborn screening
With parental consent, blood from the infant’s heel is usually screened for 25–45 conditions
including cystic fibrosis, phenylketonuria (compare the Guthrie test), congenital hypothyroidism,
galactosaemia and other rare disorders of metabolism. This test has the potential for global
screening of disorders.
Prenatal screening and diagnosis of genetic
disorders24
Approximately 2% of births are associated with congenital abnormalities, of which 1 in 7 are
chromosomal, the most common of which is Down syndrome (trisomy 21). Antenatal screening
tests that can now be performed for several conditions are mainly:
screening tests for Down syndrome and other trisomies
screening tests for thalassaemias/haemoglobinopathies
second-trimester ultrasound scans for fetal abnormalities, such as neural tube defects (NTD)
and abdominal wall defects (AWD)
Screening for Down syndrome
This has a live birth incidence of 1.4 per 1000 in Australia.20 The risk of conceiving a child with
Down syndrome increases proportionally with age. For a woman aged 21, it is 1 in 1000, while
for a woman aged 35, it is 1 in 275 and for a woman aged 45, it is 1 in 20.
The tests available to test for Down syndrome include the following’:5,25,26
1. combined first-trimester screening tests (maternal serum screening/MSST; cell-free fetal DNA
at 10–12 weeks gestation; nuchal translucency ultrasound at 11–14 weeks)
2. second-trimester MSST (4 analytes): alpha fetoprotein, oestriol, free beta hCG, inhibin A. This
test is basically for women presenting later in pregnancy. A final risk is calculated by a
computer program which combines other factors such as EDD age and age of gestation
3. non-invasive prenatal test (NIPT) from 10–21 weeks maternal serum. This cell-free DNA
screening should be offered as a choice to women. This aneuploidy test usually covers three
trisomies: 21 Down syndrome, 18 Edward syndrome, 13 Patau syndrome. A follow-up
ultrasound is recommended for Down syndrome. It has the potential to screen multiple
disorders as it examines the genetic material of the fetus in maternal serum
4. diagnostic tests (chorionic villus sampling, amniocentesis). The most reliable method is
obtaining fetal tissue by these last means but there is a significant risk of miscarriage (1 in 100
for chorionic villus sampling and 1 in 200 for amniocentesis)
Consanguinity
Consanguinity is the situation where a couple shares one or more common ancestors.
Consanguineous relationships occur in most societies and in some cultures are associated with
particular advantages and religious traditions.9
First cousins share a pair of grandparents and are statistically at an increased risk for autosomal
recessive conditions. The baseline risk that any couple will have a baby with a birth defect is 3–
4%.9 In addition, empirical data show that for first cousin marriage there is an additional 4% risk
of having a child with a birth defect—this includes malformations such as intellectual
impairment and many rare autosomal recessive disorders. So the combined risk is 8%
irrespective of a positive family history, which is an important consideration in counselling these
people.9
For siblings the risk of increase in birth defects is 30% and 19% for second cousins.
Patient education resources
Rare but helpful diagnostic tips Hand-out sheets from Murtagh’s Patient Education 8th edition:

Dark black urine on exposure = alkaptonuria Autism spectrum disorder

DxT arthritis + pigmentation of ear cartilage + grey–black urine with Cystic fibrosis
alkalisation → alkaptonuria
Down syndrome

Fragile X syndrome
Red urine on exposure = porphyria
Spinal muscular atrophy
Blue nappies/diapers = tryptophan malabsorption syndrome
Tourette syndrome
Maple syrup odour (urine and perspiration) = maple syrup urine disease (AR) (an amino acid
metabolic disorder)
Resources
DxT odour + hypertonicity + seizures (infancy) → maple syrup urine
disease Centre for Genetic Education, NSW Health: www.genetics.edu.au

Page 251 Cancer Council Australia, family cancer clinics helpline: 13 11 20

Mousy body odour = phenylketonuria

‘Fish-like’ mouth with micrognathia = Turner syndrome References

‘Chipmunk’ facies = thalassaemia major 1 Golden F, Lemonick M. The race is over. Time (Asia Pacific edn), 2000; 3 July: 56–61.

‘Doll-like’ facies = glycogen storage disease (G-6-P deficiency)
Elfin face = Williams syndrome
Butterfly-like facial rash in children = tuberous sclerosis
Weak suction + delayed sitting and crawling + hypotonia = Prader–Willi syndrome
‘Happy puppet’ features = Angelman syndrome
Characteristic eyes: wide-spaced, down-slanting openings, ptosis = Noonan syndrome
Long fingers and limbs = Marfan syndrome
High-pitched meowing cry, low-set ears, mental retardation = ‘cat-cry’ syndrome (maladie du
cri du chat)
Blue sclera = osteogenesis imperfecta
2 Tierney LM et al. Current Medical Diagnosis and Treatment (41st edn). New York: The
McGraw-Hill Companies, 2002: 1645.
3 Warner BJ, McArthur GA. Cancer and the genetic revolution. Aust Fam Physician, 2001;
30: 933–5.
4 Newstead J, Metcalfe S. Getting the gene into genetic practice. Aust Fam Physician, 2001;
30: 927.
5 Singh A. Pharmacogenomics: the potential of genetically guided prescribing. Aust Fam
Physician, 2007; 36(10): 821–4.
6 Hyett J. Non-invasive prenatal testing for Down syndrome. Aust Prescr, 2014; 37: 51–5.
7 Kingston H. Clinical genetic services. BMJ, 1989; 298: 306–7.
8 Jameson JL, Kasper DL, Longo Dl et al. Harrison’s Principles of Internal Medicine (Vol
2) (20th edn). New York: McGraw-Hill Education, 2018: 3359–61.

9 Craig J et al. Genetics. Check Program, 2001; issue 349.

10 Barlow-Stewart K, Emery J, Metcalfe S. Genetics in Family Medicine: The Australian Delatycki MB et al. Preconception and antenatal carrier screening for genetic conditions:
Handbook. Canberra: Australian Government, NHMRC, 2007. 26 the critical role of general practitioners. Aust J Gen Pract, 2019; 48(3): 106–10.

11 Ioannou L et al. Population-based carrier screening for cystic fibrosis: a systematic review
of 23 years of research. Genet Med 2014; 16(3): 207–16.

12 Delatycki M, Tassicker R. Adult onset neurological disorders. Predictive genetic testing.

Aust Fam Physician, 2001; 30(10): 948–52.

13 Levy-Lahad E, Bird T. Alzheimer’s disease: genetic factors. In: Pulst SM, ed.
Neurogenetics. New York: Oxford University Press, 2000.

14 Devlin B et al. Genetic relationship between five psychiatric disorders estimated from
SNPs. Nature Genetics, 2013; 45: 984–94.

15 Metcalfe S et al. Genetics and blood haemoglobinopathies and clotting disorders. Aust
Fam Physician, 2007; 36(10): 812–19.

16 Lucarelli G. Bone marrow transplantation in adult thalassaemia patients. N Engl J Med,

1999; 93: 1164.

17 Lennox N (Chairman). Management Guidelines: People with Development and

Intellectual Disabilities (2nd edn). Melbourne: Therapeutic Guidelines Ltd, 2005.

18 Kidd SA et al. Fragile X syndrome: a review of associated medical problems. Paediatrics,

November 2014; 134(5): 995–1005.

19 Bankier A. Syndrome Quiz. Fetal alcohol syndrome. Aust Fam Physician, 1990; 19: 1297.

20 Emery J, Barlow-Stewart K. Genetics and preventive health care. Aust Fam Physician,
2007; 36(10): 808–11

21 Amor D. Familial cancers. Aust Fam Physician, 2001; 30: 937–45.

22 Porter RS, Kaplan JL. The Merck Manual (19th edn). New Jersey: Merck Research
Laboratories, 2011: 3003–4.

23 Woolcock J, Grivell R. Noninvasive prenatal testing. Aust Fam Physician, July 2014;
43(7): 432–4.

24 Metcalfe S, Barlow-Stewart K. Population health screening. Aust Fam Physician, 2007;

36(10): 794–800.

25 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.
Prenatal screening and diagnosis of chromosomal and genetic conditions in the fetus in
pregnancy (C-Obs59) [under review]. East Melbourne: RANZCOG, 2011. Available from:
www.ranzcog.edu.au/Statements-Guidelines, accessed February 2018.
Page 253

Part 3 Presenting symptoms and problem solving

in general practice
Page 254

24 Abdominal pain

A great fit of the stone in my left kidney: all day I could do but three or four drops of water, but I
drunk a draught of white wine and salet oyle, and after that, crabs’ eyes in powder with the bone
in the carp’s head and then drunk two great draughts of ale with buttered cake; and I voyded
with an hour much water and a stone as big as an Alexander seed. God be thanked!

JOHN DEE 1594

Abdominal pain represents one of the top 15 presenting symptoms in primary care1 and varies
from a self-limiting problem to a life-threatening illness requiring immediate surgical
intervention. Abdominal pain can be considered to be acute, subacute, chronic or recurrent. It can
embrace all specialties, including surgery, medicine, gynaecology, paediatrics, geriatrics and
psychiatry. For acute abdominal conditions it is important to make a rapid diagnosis in order to
reduce morbidity and mortality. Most cases of ‘acute abdomen’ require surgical referral. Lower
abdominal pain in women adds another dimension to the problem and will be presented in a
separate chapter (CHAPTER 95 ).

Key facts and checkpoints

The commonest causes of the acute abdomen in a general practice series were:
acute appendicitis (21%), the colics (16%) and mesenteric adenitis (16%).2

An international study involving referral to 26 surgical departments in 17

countries revealed the most common conditions to be: non-specific abdominal
pain (34%), acute appendicitis (28%) and cholecystitis (10%).1

As a general rule, upper abdominal pain is caused by lesions of the upper GIT
and lower abdominal pain by lesions of the lower GIT.
 Colicky midline umbilical abdominal pain (severe) → vomiting → distension = peritonitis/spontaneous bacterial peritonitis
small bowel obstruction (SBO). ascending cholangitis
intra-abdominal abscess
Midline lower abdominal pain → distension → vomiting = large bowel obstruction
(LBO). Pancreatitis
Ectopic pregnancy
If cases of acute abdomen have a surgical cause, the pain nearly always Small bowel obstruction/strangulated hernia
precedes the vomiting (contrast with gastroenteritis)
Sigmoid volvulus
Mesenteric artery occlusion must be considered in an older person with Perforated viscus
arteriosclerotic disease or in those with atrial fibrillation presenting with severe
Pitfalls (often missed)
abdominal pain or following myocardial infarction.
Acute appendicitis
Up to one-third of presentations of abdominal pain have no specific cause found. Muscle/myofascial tear
Pulmonary causes:
pneumonia
A diagnostic approach pulmonary embolism
Faecal impaction (elderly)
A summary of the separate diagnostic models for acute abdominal pain and chronic abdominal Herpes zoster
pain are presented in TABLES 24.1 and 24.2 .
Rarities:
Porphyria
Table 24.1 Acute abdominal pain (adults): diagnostic strategy model (excluding Epiploic appendagitis
trauma) Lead poisoning
Henoch–Schönlein purpura
Probability diagnosis Haemochromatosis
Acute gastroenteritis Haemoglobinuria
Acute appendicitis Addison disease
Mittelschmerz/dysmenorrhoea Seven masquerades checklist
Irritable bowel syndrome
Depression
Biliary colic/renal colic
Diabetes (ketoacidosis)
Serious disorders not to be missed Drugs (esp. narcotics)
Cardiovascular: Anaemia (sickle cell)
myocardial infarction (usually inferior) Endocrine disorder (thyroid storm, Addison)
ruptured AAA Spinal dysfunction → referred pain
dissecting aneurysm of aorta UTI (including urosepsis)
mesenteric artery occlusion/ischaemia Is the patient trying to tell me something?
Neoplasia:
May be very significant.
large or small bowel obstruction
Consider Munchausen syndrome, sexual dysfunction and abnormal stress/anxiety.
Severe infections:
acute salpingitis
 Page 255 Addison disease

Table 24.2 Chronic or recurrent abdominal pain (adult): diagnostic strategy model Seven masquerades checklist
Depression
Probability diagnosis Drugs
Endocrine disorder (Addison disease)
Irritable bowel syndrome
Spinal dysfunction
Diverticular disease
UTI
Mittelschmerz/dysmenorrhoea
Peptic ulcer/gastritis Is the patient trying to tell me something?
Serious disorders not to be missed A strong possibility: consider hypochondriasis, anxiety, sexual dysfunction,
Munchausen syndrome.
Cardiovascular:
mesenteric artery ischaemia
AAA
Probability diagnosis
Neoplasia:
bowel/stomach cancer Common reasons are common: gastroenteritis/food poisoning accounts for so many GP
pancreatic cancer presentations that occasionally a case will have examination findings of an acute abdomen. The
ovarian tumours other most common causes of acute abdomen are acute appendicitis, irritable bowel syndrome,
the various ‘colics’ and ovulation pain (mittelschmerz). Mesenteric adenitis is common in
Severe infections: children. The various causes of chronic or recurrent abdominal pain are presented in
hepatitis TABLE 24.2 . A study on chronic abdominal pain3 showed that the commonest reasons
recurrent PID (approximate percentages) were no discoverable causes (50%), minor causes including muscle
strains (16%), irritable bowel syndrome (12%), gynaecological causes (8%), peptic ulcers and
Pitfalls (often missed) hiatus hernia (8%).
Adhesions
Appendicitis Serious disorders not to be missed
Food allergies
Lactase deficiency Most of the causes of the acute abdomen are serious and early diagnosis is mandatory to reduce
mortality and morbidity.
Constipation/faecal impaction
Chronic pancreatitis It is vital not to misdiagnose a ruptured ectopic pregnancy, which causes lower abdominal or
Crohn disease suprapubic pain of sudden onset, or the life-threatening vascular causes, such as a ruptured or
Endometriosis dissecting aortic aneurysm, mesenteric artery occlusion and myocardial infarction (which can
present as epigastric pain).
Diverticulitis
Rarities: Perforated ulcers (now uncommon) and strangulated bowel, such as volvulus of the sigmoid and
Tropical infections (e.g. hydatids, melioidosis, malaria, strongyloides) entrapment of the small bowel in a hernial orifice or around adhesions, also demand an early
Uraemia diagnosis.
Lead poisoning There are some important ‘red flag’ symptoms and signs1 of abdominal emergencies demanding
Porphyria urgent attention (see box). Page 256
Sickle-cell anaemia
Hypercalcaemia
 infarction, pulmonary embolism and pneumonia, can be misleading. The rare general medical
Red flag pointers for acute abdominal pain causes—such as diabetes ketoacidosis, acute porphyria, Addison disease, lead poisoning, tabes
dorsalis, sickle-cell anaemia, haemochromatosis and uraemia—often create a diagnostic
dilemma.
History Signs
Collapse at toilet (intra-abdominal Pallor and sweating Specific pitfalls
bleeding)
Misdiagnosing a ruptured ectopic pregnancy in a woman using contraception or with a history
Lightheadedness Hypotension
of normal menstruation or where the brownish vaginal discharge is mistaken for a normal
Ischaemic heart disease Atrial fibrillation or tachycardia period.
Progressive vomiting, pain, distension Fever
Failing to examine hernial orifices in a patient with intestinal obstruction.
Menstrual abnormalities Prostration
Misleading temporary improvement (easing of pain) in perforation of gangrenous appendix or
Malignancy Rebound tenderness and
perforated peptic ulcer.
Lack of flatus guarding
Decreased urine output Overlooking acute mesenteric artery obstruction in an older person with colicky central
abdominal pain.

Attributing abdominal pain, frequency and dysuria to a urinary infection when the cause could
Dangers of misdiagnosis be diverticulitis, pelvic appendicitis, salpingitis or a ruptured ectopic pregnancy.

Ectopic pregnancy → rapid hypovolaemic shock Failing to examine testes.

Ruptured AAA → rapid hypovolaemic shock Seven masquerades checklist

Gangrenous appendix → peritonitis/pelvic abscess
Depression, diabetes, drugs, spinal dysfunction and UTI can all cause abdominal pain: acute,
Perforated ulcer → peritonitis subacute or chronic. Abdominal pain and even tenderness can accompany diabetic ketoacidosis.
Drugs that can cause abdominal pain are listed in TABLE 24.3 .
Obstructed bowel → gangrene
Table 24.3 Drugs to consider as a cause of
Pitfalls abdominal pain
A very common pitfall is missing acute appendicitis, especially in the elderly, in children, in
pregnancy and in those taking steroids, where the presentation may be atypical. Early Many illicit drugs
appendicitis presents typically with central abdominal pain that shifts to the right iliac fossa Alcohol
(RIF) some 4–6 hours later. It can be difficult to diagnose early on. It can cause diarrhoea with Antibiotics (e.g. erythromycin)
abdominal pain, especially if a pelvic appendix, and can be misdiagnosed as acute gastroenteritis.
Aspirin
Disaccharidase deficiencies, such as lactase deficiency, are associated with cramping abdominal Corticosteroids
pain, which may be severe. The pain follows some time, maybe hours, after the ingestion of milk Cytotoxic agents
and is accompanied by the passage of watery stool. The association with milk may go Tricyclic antidepressants (e.g. imipramine)
unrecognised.
Iron preparations
Herpes zoster, especially in the older person with unilateral abdominal pain in the dermatomal Nicotine
distribution, is a trap. Referred pain from conditions above the diaphragm, such as myocardial NSAIDs/COX-2 inhibitors
 Sodium valproate What type of pain is it: is it constant or does it come and go?
Phenytoin
How severe would you rate it from 1 to 10?

Have you ever had previous attacks of similar pain?

Spinal dysfunction of the lower thoracic spine and thoracolumbar junction can cause referred
pain to the abdomen. The pain is invariably unilateral, radicular in distribution and related to What else do you notice when you have the pain?
activity. It can be confused with intra-abdominal problems such as biliary disease (right-sided),
appendicitis and Crohn disease (right side), diverticular disorder (left-sided) and pyelonephritis. Do you know of anything that will bring on the pain? Or relieve it?

Page 257 What effect does milk, food or antacids have on the pain?
Psychogenic considerations Have you noticed any sweats or chills or burning of urine?

Psychogenic factors can be most relevant, especially in recurrent or chronic abdominal pain Are your bowels behaving normally? Have you been constipated or had diarrhoea or blood in
where no specific cause can be identified. Certainly consider psychosocial issues in adolescents your motions?
and young adults presenting with recurrent pain.
Have you noticed anything different about your urine?
Munchausen syndrome is hospital admission by deception, often with severe abdominal pain
without convincing clinical signs or abnormal investigation. Diagnosis requires a high level of What medications do you take?
suspicion.
How much aspirin do you take?
The clinical approach Are you smoking or drinking heavily or taking illicit drugs?

Have you travelled recently?

History
What is happening with your periods? Is it mid-cycle or are your periods overdue?
The urgency of the history will depend on the manner of presentation, whether acute or chronic.
Pain has to be analysed according to its quality, quantity, site and radiation, onset, duration and Does anyone in your family have bouts of abdominal pain?
offset, aggravating and relieving factors and associated symptoms and signs.
Do you have a hernia?
Special attention has to be paid to:
What operations have you had for your abdomen? Appendix, gall bladder?
anorexia, nausea or vomiting

micturition Examination
bowel function A useful checklist for conducting the examination is:

menstruation/contraception general appearance

drug intake oral cavity

vital parameters: temperature, pulse, BP, respiratory rate

Key questions
chest: check heart and lungs for upper abdominal pain (especially if absent abdominal signs)
Point to where the pain is and where it travels to.
abdomen: inspection, auscultation, palpation and percussion (in that order)
Questions to ask:
Abdominal examination should be performed with the patient lying flat with one pillow under Investigations
the head and the abdomen uncovered from xiphisternum to groin. Consider the following:
The following investigations may be selected if indicated:
inguinal region (including hernial orifices) and femoral arteries
haemoglobin—anaemia with chronic blood loss (e.g. peptic ulcer, cancer, oesophagitis)
rectal examination
blood film—abnormal red cells with sickle-cell disease
vaginal examination (females): for suspected problems of the fallopian tubes, uterus or ovaries
WCC—leucocytosis with appendicitis (75%),4 acute pancreatitis, mesenteric adenitis (first day
thoracolumbar spine (if referred spinal pain suspected)
only), cholecystitis (especially with empyema), pyelonephritis
urine analysis: white cells, red cells, glucose and ketones, porphyrins
ESR—raised with cancer, Crohn disease, abscess (but non-specific)
special clinical tests: Murphy sign (a sign of peritoneal tenderness with acute cholecystitis);
C-reactive protein (CRP)—use in diagnosing and monitoring infection, inflammation (e.g.
psoas and obturator signs
pancreatic). Preferable to ESR
look for hernias: Spigelian hernias occur through defects in transversus abdominal muscle
liver function tests—hepatobiliary disorder
lateral to the rectus sheath—usually below the level of the umbilicus
serum amylase and/or lipase (preferable)—if raised to greater than three times normal upper
Guidelines level acute pancreatitis is most likely; also raised partially with most intra-abdominal disasters
(e.g. ruptured ectopic pregnancy, perforated peptic ulcers, ruptured empyema of gall bladder,
Palpation: start away from the painful side, palpate with gentleness—note any guarding or ruptured aortic aneurysm)
rebound tenderness: guarding indicates peritonitis; rebound tenderness indicates peritoneal
irritation (bacterial peritonitis, blood). Feel for maximum site that corresponds to focus of the faecal elastase—chronic pancreatitis
problem
pregnancy tests—urine or serum β-HCG: for suspected ectopic
Patient pain indicator: the finger pointing sign indicates focal peritoneal irritation; the spread
palm sign indicates visceral pain Helicobacter pylori testing

Atrial fibrillation: consider mesenteric artery obstruction urine:

Tachycardia: sepsis and volume depletion blood: ureteric colic (stone or blood clot), urinary infection

Tachypnoea: sepsis, pneumonia, acidosis white cells: urinary infection, appendicitis (bladder irritation)

Pallor and ‘shock’: acute blood loss bile pigments: gall bladder disease

Auscultation: note bowel activity or a succussion splash (best before palpation and percussion) porphobilinogen: porphyria (add Ehrlich aldehyde reagent)
Page 258
Causes of a ‘silent abdomen’: diffuse sepsis, ileus, mechanical obstruction (advanced). ketones: diabetic ketoacidosis

If distension, consider the six Fs: fat, fluid, flatus, faeces, fetus, frightening growths. air (pneumaturia): fistula (e.g. diverticulitis, other pelvic abscess, pelvic cancer)

Hypertympany indicates mechanical obstruction. faecal blood—mesenteric artery occlusion, intussusception (‘redcurrant jelly’), colorectal
cancer, diverticulitis, Crohn disease and ulcerative colitis
Physical signs may be reduced in the elderly, grossly obese, severely ill and those using
corticosteroids. Radiology
The two main screening tests are ultrasound and CT scan.5 Plain abdominal X-ray is an distended bowel with fluid level → bowel obstruction
alternative, if more readily available. The following tests can be considered according to the
clinical presentation: enlarged caecum with large bowel obstruction

ultrasound: good for hepatobiliary system, kidneys and female pelvis. Look for: blurred right psoas shadow → appendicitis

gallstones ‘coffee bean’ sign → volvulus

ectopic pregnancy a sentinel loop of gas in left upper quadrant (LUQ) → acute pancreatitis

pancreatic pseudocyst chest X-ray: air under diaphragm → perforated ulcer

aneurysm aorta/dissecting aneurysm IVP

hepatic metastases and abdominal tumours contrast-enhanced CT or X-ray (e.g. Gastrografin meal): diagnosis of bowel leakage

thickened appendix barium enema

paracolic collection HIDA nuclear scan—diagnosis of acute cholecystitis (good when US unhelpful)

Note: can be affected by gas shadows ERCP: shows bile duct obstruction and pancreatic disease

CT scan: gives excellent survey of abdominal organs including masses and fluid collection: MRI scan (especially useful with contrast)

pancreatitis (acute and chronic) Other tests:

undiagnosed peritoneal inflammation (best) ECG

trauma endoscopy upper GIT

diverticulitis sigmoidoscopy and colonoscopy

leaking aortic aneurysm

retroperitoneal pathology

appendicitis (especially with oral contrast)

plain X-ray abdomen (erect and supine): look for (see FIG. 24.1 ):

kidney/ureteric stones—70% opaque4

biliary stones—only 10–30% opaque

air in biliary tree

calcified aortic aneurysm Page 259

marked distension sigmoid → sigmoid volvulus

 and kidney colic are not true colics at all.

FIGURE 24.2 Characteristic pain patterns for various causes of ‘colicky’ acute
abdominal pain

Site of pain
FIGURE 24.1 The acute abdomen: signs to watch for on plain abdominal X-
ray Typical pain sites of abdominal pain (general guidelines only) are presented in FIGURE 24.3 .
Epigastric pain usually arises from disorders of the embryologic foregut, such as the oesophagus,
stomach and duodenum, hepatobiliary structures, pancreas and spleen. However, as some
Diagnostic guidelines disorders progress the pain tends to shift from the midline to the right (gall bladder and liver) or
left (spleen). Periumbilical pain usually arises from disorders of structures of the embryologic
midgut, while structures from the hindgut tend to refer pain to the lower abdomen or suprapubic
General rules region. Page 260

Upper abdominal pain is caused by lesions of the upper GIT.

Lower abdominal pain is caused by lesions of the lower GIT or pelvic organs.

Early severe vomiting indicates a high obstruction of the GIT.

Acute appendicitis features a characteristic ‘march’ of symptoms: pain → anorexia, nausea →

vomiting.

Pain patterns
The pain patterns are presented in FIGURE 24.2 . Colicky pain is a rhythmic pain with regular
spasms of recurring pain building to a climax and fading. It is virtually pathognomonic of
intestinal obstruction. Ureteric colic is a true colicky abdominal pain, but so-called biliary colic
 gastroenteritis (all ages)
mesenteric adenitis
2 Serious causes, not to be missed:
intussusception (peaks at 6–9 months)
acute appendicitis (mainly 5–15 years)
bowel obstruction/strangulated hernia
3 Pitfalls:
child abuse
constipation/faecal impaction
torsion of testes
lactose intolerance
peptic ulcer
infections: mumps, tonsillitis, pneumonia (esp. right lower lobe), EBM, UTI
adnexal disorders in females (e.g. ovarian)
acute pancreatitis
4 Rarities:
Meckel diverticulitis
FIGURE 24.3 Typical sites of various causes of acute abdominal pain Henoch–Schönlein purpura
sickle crisis
The intra-abdominal sensory receptors can be considered as innervating visceral or parietal lead poisoning
peritoneum. Visceral mechanoreceptors are triggered by intestinal distension or tension on
mesentery or blood vessels while nociceptors are triggered by mechanical, thermal and chemical 5 Seven masquerades checklist:
stimuli. The pain from viscera is felt as diffuse and poorly localised, while stimulation of parietal type 1 diabetes
peritoneal nociceptors gives a pain that is experienced directly at the site of insult. drugs
UTI
Abdominal pain in children
6 Psychogenic consideration:
Abdominal pain is a common complaint in children, especially recurrent abdominal pain, which important cause
is one of the most common complaints in childhood. The problem causes considerable anxiety in
parents and it is important to differentiate the severe problems demanding surgery from non-
surgical problems. About one in 15 will have a surgical cause for pain.6 A good rule is to rule out
a urinary infection with urinalysis. Infant ‘colic’ (period of infant distress)
This is the occurrence in a well baby of regular, unexplained periods of inconsolable crying and
Table 24.4 Acute abdominal pain in children fretfulness, usually in the late afternoon and evening, especially between 2 weeks and 16 weeks
of age. No apparent cause can be found, and the word ‘colic’ refers to the historical assumption
that the crying is caused by abdominal pain. It is very common, occurring in about one-third of
The causes of abdominal pain can be considered in the diagnostic model category. infants and lasting for a period of at least three weeks.
1 Common causes/probability diagnosis:
infant ‘colic’ Clinical features
 Baby between 2 and 16 weeks old Intussusception
Prolonged crying—at least 3 hours
Intussusception is the diagnosis that should be foremost in one’s mind with a child aged between
3 months and 2 years presenting with sudden onset of severe colicky abdominal pain, coming at
Occurrence at least 3 days a week
intervals of about 15 minutes and lasting for 2–3 minutes. Early diagnosis, within 24 hours of
Crying worst at around 10 weeks of age onset, is essential, for after this time there is a significant rise in morbidity and mortality. A
segment of bowel telescopes into the adjoining distal segment (e.g. ileocaecal segment), resulting
Crying during late afternoon and early evening in intestinal obstruction. It is usually idiopathic but can have a pathological lead point (4–12
years) (e.g. polyp, Meckel diverticulum).
Child flexing legs and clenching fists as if severe ‘stomach ache’
Typical clinical features7
Normal physical examination
See FIGURE 24.4 .
Management
Reassure and explain. Advise the parents:

Use gentleness (such as subdued lighting where the baby is handled, soft music, Page 261
speaking softly, quiet feeding times).

Avoid quick movements that may startle the baby.

Make sure the baby is not hungry—avoid underfeeding.

Provide demand feeding (in time and amount).

Make sure the baby is burped, and give posture feeding.

Provide comfort from a dummy or pacifier.

Provide plenty of gentle physical contact.

Cuddle and carry the baby around (e.g. take a walk around the block).

A carrying device such as ‘snuggly’ or ‘Mei Tai Sling’ allows the baby to be carried around at
the time of crying.

Make sure the mother gets plenty of rest during this difficult period.
FIGURE 24.4 Typical features with pain distribution of acute intussusception
Do not worry about leaving a crying child for 10 minutes or so after 15 minutes of trying
consolation. Male babies > female

Medication Range: birth to school age, usually 5–24 months

Drugs are not generally recommended, but some preparations have tradition, if not much science, Sudden-onset acute pain with shrill cry
behind them (e.g. simethicone [Infacol wind drops]).
Vomiting
 Lethargy Page 262

Pallor with attacks

Drugs
In any child complaining of acute abdominal pain, enquiry should be made into drug ingestion.
Intestinal bleeding: redcurrant jelly (60%)7
A common cause of colicky abdominal pain in children is cigarette smoking (nicotine); consider
other drugs such as marijuana, cocaine and heroin.
DxT pale child + severe ‘colic’ + vomiting → acute intussusception
Acute appendicitis in children
Signs This may occur at any age, being more common in children of school age (10–12 years) and in
adolescence, and uncommon in children under 3 years of age. Special problems of early
Pale, anxious and unwell diagnosis occur with the very young (younger than 3 years) and in intellectually disabled
children, many of whom present with peritonitis.
Sausage-shaped mass in right upper quadrant (RUQ) anywhere between the line of colon and
umbilicus, especially during attacks (difficult to feel) Vomiting occurs in at least 80% of children with appendicitis and diarrhoea in about 20%. The
temperature is usually only slightly elevated but in about 5% of cases it exceeds 39°C.4
Signe de dance (i.e. emptiness in RIF to palpation)
In children the physical examination, especially eliciting abdominal (including rebound)
Alternating high-pitched active bowel sounds with absent sounds tenderness, and the rectal examination demand considerable tact, patience and gentleness.
Jumping or hopping induces pain.
Rectal examination: ± blood ± hard lump
A serious point of confusion can occur between pelvic appendicitis, causing diarrhoea and
Diagnosis vomiting, and acute gastroenteritis. A high CRP level >50 mg/L is a feature of appendicitis.6 A
particularly severe case of apparent gastroenteritis, especially if persistent, should be regarded as
Ultrasound pelvic appendicitis until proved otherwise. Ultrasound is the preferred imaging.

Enema using oxygen or barium (with caution) used for diagnosis and treatment
Treatment7
Hydrostatic reduction by air or oxygen from the ‘wall’ supply (preferred) or barium enema
Surgical intervention may be necessary
Differential diagnosis
Acute gastroenteritis: can be difficult in those cases where there is some loose stool with
intussusception and with blood and mucus without much watery stool in gastroenteritis.
However, usually attacks of pain are of shorter duration, and there is loose watery stool, fever
and no abdominal mass. If doubtful, refer as possible intussusception.
Mesenteric adenitis
This presents a difficult problem in differential diagnosis with acute appendicitis because the
history can be very similar. At times the distinction may be almost impossible. In general, with
mesenteric adenitis localisation of pain and tenderness is not as definite, rigidity is less of a
feature, the temperature is higher, and anorexia, nausea and vomiting are also lesser features. The
illness lasts about five days followed by a rapid recovery. Comparisons between the two are
presented in TABLE 24.5 , but if in any doubt it is advisable to consider the problem as acute
appendicitis, admit for observation and be prepared for laparoscopy/laparotomy.
Table 24.5 Comparison of the features of acute appendicitis and mesenteric
adenitis in children (guidelines only)

Impacted faeces can lead to spasms of colicky abdominal pain—usually an older child with a
Acute appendicitis Mesenteric adenitis
history of constipation.
Typical child Older Younger
Other causes of intestinal obstruction (e.g. irreducible inguinal hernia, volvulus, intra- Site of onset of pain Midline RIF
abdominal band). Shifting to Can be midline
 right Possible causes
Preceding respiratory Uncommon Invariable: URTI or tonsillitis
illness Constipation

Anorexia, nausea, vomiting ++ ± Childhood migraine equivalent (pain with extreme pallor)
Colour Usually pale Flushed: malar flush
Lactose intolerance (symptoms related to milk ingestion)
Temperature N or ↑ ↑↑→↑↑↑
Intestinal parasites (may disturb child about 60 minutes after falling asleep)
Abdominal palpation Tender in RIF Tender in RIF
Guarding Minimal guarding Page 263
± Rigidity Usually no rigidity
Investigations
Rectal examination Invariably Often tender but lesser
tender degree Urine analysis and MSU

Psoas and obturator tests Usually positive Usually negative FBE and ESR

Full blood examination Leucocytosis Lymphocytosis Plain X-ray (assesses faecal retention)

RIF = right iliac fossa

Non-organic RAP

Mesenteric adenitis can sometimes present an anaesthetic risk and patients are usually quite ill in Clinical features
the immediate postoperative period. Treatment is symptomatic and includes ample fluids and
paracetamol. Typical clinical features include:

acute and frequent colicky abdominal pain

Recurrent abdominal pain
pain localised to or just above umbilicus
Recurrent abdominal pain (RAP)—three distinct episodes of abdominal pain over 3 or more no radiation of pain
months—occurs in 10% of school-aged children. In only 5–10% of children will an organic
cause be found so that in most cases the cause remains obscure.8 pain lasts less than 60 minutes

Causes (organic) nausea and frequent vomiting are usually absent

An organic cause, however, must be considered and excluded. Organic disease is more likely if: diurnal (never wakes the child at night)

the pain is other than periumbilical minimal umbilical tenderness

the pain radiates rather than remains localised anxious child

the pain wakes the child from sleep obsessive or perfectionist personality

the pain is accompanied by nausea and vomiting one or both parents intense about child’s health and progress

the child is not completely well between attacks Psychogenic factors

there is associated weight loss or failure to thrive Although psychogenic factors are very relevant in individual cases there is scant hard evidence to
support the widely held hypothesis8 that such factors account for the vast majority of RAP. Some intestinal obstruction
children will have obvious psychological problems or even be school avoidant, a common factor
being family disruption. cancer, especially of the large bowel

herpes zoster, causing unilateral root pain

Management8
Give explanation, reassurance and support (ensure that the patient is involved in the
discussion).
Reassurance can only be given following a careful examination and thoughtfully chosen
investigations.
Avoid investigations, especially radiological if possible (FBE and MCU are okay).
Acknowledge that the child has pain.
Emphasise that the disorder is common, and usually traverses childhood without ill effects.
Recommend simple measures (e.g. local warmth, brief rest for painful episodes).
Advise review if episodes change in nature, pain persists for hours or there are new symptoms.
Identify any life stresses and provide insight therapy.
Enquire about family structures and function, and school performance.
Discourage identification with the sick role.
Refer for psychological assessment and counselling if necessary.
constipation and faecal impaction
Problems arise with management because the pain threshold is raised (colic in particular is less
severe) and there is an attenuated response to infection so that fever and leucocytosis can be
absent. Non-specific signs, such as confusion, anorexia and tachycardia, might be the only
systemic evidence of infection.
Abdominal aortic aneurysm
An AAA may be asymptomatic until it ruptures or may present with abdominal discomfort and a
pulsatile mass noted by the patient. There tends to be a family history and thus screening is
appropriate in such families. Ultrasound screening is advisable in first-degree relatives over 50
years.
The risk of rupture is related to the diameter of the AAA and the rate of increase in diameter. The
normal diameter of the abdominal aorta, which is palpated just above the umbilicus, is
10–30 mm, being 20 mm on average in the adult; an aneurysm is greater than 30 mm in
diameter.9 Refer if ≥40 mm. Greater than 50 mm is significantly enlarged and is chosen as the
arbitrary reference point to operate because of the exponential rise in risk of rupture with an
increasing diameter. Refer all cases. The patency of a Dacron graft after 5 years is approximately
95% (see FIG. 24.5 ). Newer techniques include endovascular aneurysm repair.
Page 264

Abdominal pain in older people

Older people can suffer from a wide spectrum of disorders. Ischaemic events, emboli, cancer (in
particular) and diverticulae of the colon are more common in old age; duodenal ulcer is less so.
Those causes of abdominal pain that occur with more frequency include:

vascular catastrophies: ruptured AAA, mesenteric artery occlusion

perforated peptic ulcer

biliary disorders: biliary pain and acute cholecystitis

diverticulitis

sigmoid volvulus

strangulated hernia
 FIGURE 24.5 Guidelines for normal and abnormal widths of the abdominal
aorta in adults (to exact scale)
Investigations
Ultrasound (good for screening) in relatives >50 years (obesity a problem)
CT scan (clearer imaging). Helical/spiral scan is investigation of choice
MRI scan (best definition)
Rupture of aneurysm
This is a real surgical emergency in an elderly person who presents with acute abdominal and
perhaps back pain with associated circulatory collapse (see FIG. 24.6 ). The patient often
collapses at toilet because they feel the need to defecate and the resultant Valsalva manoeuvre
causes circulatory embarrassment.
FIGURE 24.6 Typical pain distribution of a ruptured abdominal aortic
aneurysm
The patient should be transferred immediately to a vascular surgical unit, which should be
notified in advance. Two important emergency measures for the ‘shocked’ patient are
intravenous access for plasma expanding fluid (a central venous line is best if possible) and swift
action.
DxT intense abdominal pain + pale and ‘shocked’ ± back pain →
ruptured AAA
Mesenteric artery occlusion
Acute intestinal ischaemia arises from superior mesenteric artery occlusion from either an
embolus or a thrombosis in an atherosclerotic artery. Another cause is an embolus from atrial
fibrillation. Necrosis of the intestine soon follows if intervention is delayed.
Clinical features
Central periumbilical abdominal pain—gradually becomes intense. Patients develop a ‘fear of
 eating’
Profuse vomiting
Watery diarrhoea—blood in one-third of cases (eventually) (refer to CHAPTER 34 )
Patient becomes confused
DxT anxiety and prostration + intense central pain + profuse vomiting ±
bloody diarrhoea → mesenteric arterial occlusion
Signs
Localised tenderness, rigidity and rebound over infarcted bowel (later finding)
Absent bowel sounds (later)
Shock develops later
Tachycardia (may be atrial fibrillation and other signs of atheroma)
Investigations
CRP may be elevated intestinal alkaline phosphatase.
X-ray (plain) shows ‘thumb printing’ due to mucosal oedema on gas-filled bowel. CT
scanning gives the best definition while mesenteric arteriography is performed if embolus is
suspected. However, it is commonly only diagnosed at laparotomy.
Management
Early surgery may prevent gut necrosis but massive resection of necrosed gut may be required as
a life-saving procedure. Early diagnosis (within a few hours) is essential. Page 265
Note:
Mesenteric venous thrombosis can occur but usually in people with circulatory failure.
Inferior mesenteric artery occlusion is less severe and survival more likely.
Acute retention of urine
Acute retention of urine with a volume of 600+ mL usually causes severe lower abdominal pain,
which may not be apparent in a senile or dementing person. Find and treat the cause. Apart from
the common cause of an enlarged prostate or prostatitis, it can also result from bladder neck
obstruction by faecal loading or other pelvic masses or anticholinergic drugs. It is often
precipitated by extreme cold or an excess of alcohol. Neurogenic causes include multiple
sclerosis, spinal injury and diabetes.
Management
Perform a rectal examination and empty rectum of any impacted faecal material.
Catheterise with size 14 Foley catheter to relieve obstruction and drain (give antibiotic cover).
Have the catheter in situ and seek a urological opinion. Send specimen for MCU.
If there is any chance of recovery (e.g. if the problem is drug-induced), withdraw drug, leave
catheter in for 48 hours, remove and give trial of prazosin 0.5 mg bd or terazosin.
In some instances, it may be worth giving analgesics, ambulating the patient and attempting
voiding by standing up to the sound of running water. A hot bath may also provide a simple
solution.
Check for prostate cancer and renal impairment.
Perform neurological examination of lower limbs and perianal area.
Chronic retention of urine
May be painless, of insidious onset and present with overflow of urine. Bladder capacity may be
>1.5 L.
Faecal impaction
Faecal impaction is encountered typically in the aged, bedridden, debilitated person. Its clinical
presentation may closely resemble malignant obstruction.10 Spurious diarrhoea can occur, which
is known as ‘faecal incontinence’ (see CHAPTER 26 ).
Acute appendicitis
Acute appendicitis is mainly a condition of young adults but it affects all ages (although
uncommon under 3 years). Despite its declining incidence, it is the commonest surgical
emergency and special care has to be taken with the very young and the very old. The symptoms
can vary because of the different positions of the appendix. It is basically a clinical diagnosis.
Clinical features
See FIGURE 24.7 . Typical clinical features are:
usually under 30 years of age
initial pain is central abdominal (sometimes colicky)
 increasing severity and then continuous Flushed at first, then pale

shifts and localises to RIF within 6 hours Furred tongue and halitosis

may be aggravated by walking (causing a limp) or coughing May be febrile—low-grade fever

sudden anorexia Tenderness in RIF, usually at McBurney point

nausea and vomiting a few hours after the pain starts Local rigidity and rebound tenderness

± diarrhoea and constipation Guarding

± Superficial hyperaesthesia

± Psoas sign: pain on resisted flexion of right leg, on hip extension or on elevating Page 266
right leg (due to irritation of psoas especially with retrocaecal appendix)

± Obturator sign: pain on the examiner flexing patient’s right thigh at the hip with the knee
bent and then internally rotating the hip (due to irritation of internal obturator muscle)

Rovsing sign: rebound tenderness in RIF while palpating in LIF

PR: anterior tenderness to right, especially if pelvic appendix or pelvic peritonitis

Variations and cautions

Abscess formation → localised mass and tenderness

Retrocaecal appendix: pain and rigidity less and may be no rebound tenderness; loin
tenderness; positive psoas test

Pelvic appendix: no abdominal rigidity; urinary frequency; diarrhoea and tenesmus; very
tender PR; obturator tests usually positive

Elderly patients: pain often minimal and eventually manifests as peritonitis; can simulate
intestinal obstruction

Pregnancy (occurs mainly during second trimester): pain is higher and more lateral; harder to
FIGURE 24.7 Typical pain distribution of acute appendicitis diagnose; peritonitis more common

Perforation more likely in those who are very young, elderly or have diabetes
DxT localised RIF pain + a/n/v + guarding → acute appendicitis Investigations
Investigations, including imaging, are of limited value:
Signs blood cell count shows a leucocytosis (75%) with a left shift
Patient looks unwell urea and electrolytes—to assess hydration prior to surgery
 CRP—elevated

ultrasound shows a thickened appendix (86% sensitivity, 81% specificity);11 affected by gas
shadow
plain X-ray may show local distension, blurred psoas shadow and fluid level in caecum
CT scan (94% sensitivity, 98% specificity) also allows other causes, especially in the female
pelvis, to be evaluated12
Main causes
Outside obstruction (e.g. adhesions—commonest cause, previous laparotomy), strangulation in
hernia or pockets of abdominal cavity (see FIG. 24.8 )—this may lead to a ‘closed loop’
obstruction.14
Lumen obstructions (e.g. foreign body, trichobezoar, gallstones, intussusception, malignancy).

laparoscopy

β-HCG

Management
Immediate referral for surgical removal—the gold standard. If perforated, cover with cefotaxime
and metronidazole. If abscess, radiologic drainage, antibiotics ± interval appendicectomy. It is
reasonable to offer a conservative approach for uncomplicated, low-grade cases, with careful
monitoring and antibiotics in selected patients. One detailed study showed that surgery was the
safest option.13

Small bowel obstruction

The symptoms depend on the level of the obstruction (see TABLE 24.6 ). The more proximal the
obstruction, the more severe the pain.

Table 24.6 Small bowel obstruction: difference between a high and a low
obstruction

High Low FIGURE 24.8 Operative findings (corrugated drainage material) in a 65-year-
Frequency of spasms 3–5 minutes 6–10 minutes old man with subacute bowel obstruction after a 21-year history of nagging
Intensity of pain +++ + abdominal pain following a cholecystectomy
Vomiting Early, frequent Later Page 267
Violent Less severe Clinical features

Content: Gastric juices, then Faeculent (later) Severe colicky epigastric and periumbilical (mainly) pain (see FIG. 24.9 )
green
Spasms every 3–10 minutes (according to level), lasting about 1 minute
Dehydration and degree of Marked Less prominent
illness Vomiting
Distension Minimal Marked
Absolute constipation (nil after bowel emptied)
 No flatus PR: empty rectum, may be tender

Abdominal distension (esp. if lower SBO) Note: check all hernial orifices, including umbilicus

X-ray: plain erect film confirms diagnosis—‘stepladder’ fluid levels (4–5 for diagnosis) in 3–4
hours

Gastrografin follow-through for precise diagnosis with caution. It can cause severe
diarrhoea and may be therapeutic in adhesive obstruction.

± CT scan (especially if extrinsic causation)

Management
IV fluids and bowel decompression with nasogastric tube

Laparotomy or hernia repair

Paralytic ileus
Temporary arrest of peristalsis is common after abdominal surgery. Other causes include drugs,
e.g. opioids, TCAs.

Symptoms
Nausea

Vomiting
FIGURE 24.9 Typical pain distribution of small bowel obstruction Vague abdominal discomfort

DxT colicky central pain + vomiting + distension → SBO Distension

Constipation/obstipation

Signs and tests Signs

Patient weak and sitting forward in distress Silent abdomen

Visible peristalsis, loud borborygmi ↓ Bowel sounds

Abdomen soft (except with strangulation) Tests

Tender when distended X-ray: air accumulation in small bowel and colon

Increased sharp, tinkling bowel sounds Management

Dehydration rapidly follows, especially in children and elderly
 Drip and suction

Large bowel obstruction

The cause is commonly colorectal cancer (75% of cases), especially on the left side, but it can
occur in diverticulitis or in volvulus of the sigmoid colon (10% of cases) and caecum.10 Sigmoid
volvulus is more common in older men and has a sudden and severe onset. The pain is less
severe than in SBO. Be wary of the non-surgical causes, simple constipation or acute pseudo-
obstruction of the colon (Ogilvie syndrome). Consider ileus.

Clinical features
Sudden-onset colicky pain (even with cancer)

Each spasm lasts less than 1 minute

Usually hypogastric midline pain (see FIG. 24.10 )

Vomiting may be absent (or late)

Absolute constipation (obstipation), no flatus

Page 268

FIGURE 24.10 Typical pain distribution of large bowel obstruction

DxT colicky pain + distension ± vomiting → LBO

Signs and tests

Increased bowel sounds, especially during pain

Distension early and marked

Local tenderness and rigidity

PR: empty rectum; may be rectosigmoid cancer or blood. Check for faecal impaction

X-ray: distension of large bowel with separation of haustral markings, especially caecal
distension
 sigmoid volvulus shows a distended loop and ‘coffee bean’ sign

Gastrografin enema confirms diagnosis

Management
Drip and suction

Surgical referral

Perforated peptic ulcer

Perforation of a peptic ulcer can cause acute abdominal pain both with and without a prior
history of peptic ulcer. It is an acute surgical emergency requiring immediate diagnosis. Consider
a history of drugs, especially NSAIDs. Perforated ulcers may follow a heavy meal. There is
usually no back pain. May be painless with steroids.

The maximal incidence is 45–55 years and more common in males, and a perforated duodenal
ulcer is more common than a gastric ulcer.

Consider the clinical syndrome in three stages:

1. prostration

2. reaction (after 4 hours)—symptoms may improve

3. peritonitis (after 4 hours)—severe pain

Clinical features
FIGURE 24.11 Typical features of perforated peptic ulcer with typical pain
See FIGURE 24.11 . Typical clinical features are: radiation
sudden-onset severe epigastric pain DxT sudden severe pain + anxious, still, ‘grey’, sweaty + deceptive
improvement → perforated peptic ulcer
continuous pain but lessens for a few hours

epigastric pain at first, and then generalised to whole abdomen

Signs and tests (typical of peritonitis)
pain may radiate to one or both shoulders (uncommon) or right lower quadrant
Patient lies quietly (pain aggravated by movement and coughing)
nausea and vomiting (delayed)
Pale, sweating or ashen at first
hiccough is a common late symptom
Guarding, board-like rigidity

Maximum signs at point of perforation

No abdominal distension
 Contraction of abdomen (forms a ‘shelf’ over lower chest) strangury—stone in bladder

Bowel sounds reduced (silent abdomen) Clinical features

Shifting dullness may be present Maximum incidence 30–50 years (M > F)
Pulse, temperature and BP usually normal at first Intense colicky pain: in waves, each lasting 30 seconds with 1–2 minutes respite
Tachycardia (later) and shock later (3–4 hours) Begins in loin and radiates around the flank to the groin, thigh, testicle or labia (see
FIG. 24.12 )
Breathing is shallow and inhibited by pain
Usually lasts <8 hours
PR: pelvic tenderness
± Vomiting
X-ray: chest X-ray may show free air under diaphragm (in 75%)—need to sit upright for prior
15 minutes

limited Gastrografin meal can confirm diagnosis

CT scan preferable, if available and safe

Page 269

Management
Pain relief

Drip and suction (immediate nasogastric tube)

Broad-spectrum antibiotics

Immediate laparotomy after resuscitation

Conservative treatment may be possible (e.g. later presentation and Gastrografin swallow
indicates sealing of perforation)

Ureteric colic
Kidney (renal) colic is not a true colic but a constant pain due to blood clots or a stone lodged at
FIGURE 24.12 Ureteric colic: typical radiation of pain in left ureteric colic
the pelvic–ureteric junction; ureteric colic, however, presents as severe true colicky pain due to
stone movement, dilatation and ureteric spasm. Fortunately, the majority of urinary calculi are
small and will pass spontaneously. DxT intense pain (loin) → groin + microscopic haematuria → ureteric
colic
Guidelines:

loin pain—stone in kidney Signs

kidney/ureteric colic—ureteric stone Restlessness: may be writhing in pain
 Pale, cold and clammy Consider an anti-emetic.

Tenderness at costovertebral angle

Outcome and follow-up
± Abdominal and back muscle spasm
The calculus is likely to pass spontaneously if <5 mm (90% <4 mm pass spontaneously).16
Smoky urine due to haematuria Page 270
If >7 mm, intervention will usually be required by extracorporeal shock wave
Diagnosis lithotripsy or surgery.

If the person passes the calculus, he or she should retrieve it and present it for analysis.
Urine: microscopy; blood testing strip (negative does not exclude calculus)
A repeat IVP may be necessary if there is evidence of obstruction for more than 3 weeks.
Plain X-ray: most stones—kidney, ureter, bladder (75%)—are radio-opaque (calcium oxalate
and phosphate) Persistent obstruction causes sepsis.
IVP: confirms opacity, level of obstruction, kidney function and any anatomical abnormalities The cause of the ‘stone’ should be considered. Search for causes such as hyperparathyroidism,
hypercalcaemia, hyperoxaluria and UTI.
Ultrasound: may locate calculus but will exclude obstruction
Fever with ureteric colic indicates an obstructed infected kidney.
Non-contrast spiral KUB-CT is the ‘gold standard’ (sensitivity 97%, specificity 96%) (will
show easily missed radiolucent11 uric acid stones)
When to refer16
Management
Any of the following:
If the diagnosis is in doubt (especially if narcotic addiction is suspected) get the patient to pass
urine in the presence of an examiner and test for haematuria. While awaiting passage of urine, an stone >7 mm in diameter
indomethacin suppository may be tried for pain relief.
high-grade or bilateral obstruction
Routine treatment (average size adult) gross hydronephrosis

Morphine 2.5 to 5 mg IV15 statim then titrate to effect fever/UTI

or unremitting pain

fentanyl 50–100 mcg IV then titrate to effect. stone fails to progress

Avoid high fluid intake, especially IV fluids—provokes distension of ureter and aggravates type 2 diabetes
pain.
staghorn calculus
Most cases settle and the patient can go home when pain relief is obtained and an IVP
arranged for the next day. presence of solitary kidney

Further pain can be alleviated by indomethacin suppositories but should be limited to two a
day.
Facts about urinary tract calculi
An effective alternative treatment is diclofenac 75 mg IM injection, then 50 mg (o) tds for 1 The prevalence is 1 to 3 per 1000 population per year16
week. Several clinical trials have shown that NSAIDs by IM injection, including ketorolac
The lifelong incidence is 10%
(10–30 mg IM [or IV] 4–6 hourly), are effective and at least as efficacious as opioids.15,16,17
 The recurrence is up to 75% (most within 2 years)
Biliary pain
The typical age range is 20–50 years (peaks at 28 years)
Abdominal pain can be produced by contraction of the biliary tree upon an obstructing stone or
Pregnancy is a risk factor inspissated bile (sludge). Although the stereotyped higher-risk person is female, 40, fat, fair and
fertile, it can occur from adolescence to old age and in both sexes.
Male to female ratio = 3:1

The incidence is inversely proportional to fibre intake and proportional to ingestion of animal
Clinical features
protein and persistently low urinary volume
See FIGURE 24.13 .
Formed from urinary supersaturation with calcium (calcium oxalate, 75–80%), uric acid (7%)
and cysteine (rare): also infected calculi (struvite)—Mg+, NH4+, PO4- (5%)

‘Phony’ colic
Some patients who present with typical colic may be feigning their pain mainly because they are
opioid dependent and seeking drugs by deception. As ureteric colic can affect young people
(peak age 28 years) this can be a very difficult management issue, even for the experienced.

The use of CT scanning would help in locating calculi in such patients. If in doubt, an
appropriate agent would be ketorolac 10–30 mg IM.

It is advisable to obtain a specimen of urine passed in the presence of an examiner and then
tested for microscopic blood. While awaiting passage of urine an indomethacin suppository may
be tried for pain relief.

Recurrent urinary calculi

Investigations
Serum electrolytes, urea, creatinine

Serum calcium, phosphate, uric acid, magnesium

Serum alkaline phosphatase

Urine sample—microbiology and culture
At least two consecutive 24-hour urine samples
Stone analysis
IVP
Dietary advice is given in CHAPTER 5
FIGURE 24.13 Typical site of pain of biliary colic and acute cholecystitis
Typical clinical features are:
acute onset severe pain
postprandial or at night (often wakes 2–3 am)
constant pain (not colicky)
.
lasts 20 minutes to 2–6 hours
 maximal RUQ or epigastrium Page 271 ketorolac 10–30 mg IM 4–6 hourly (max. 90 mg daily)

may radiate to tip of right shoulder or scapula Gallstone dissolution with ursodeoxycholic acid or lithotripsy (in those unable to have
surgery)
painful episode builds to a crescendo for about 20 minutes; may recede or last for hours
Laparoscopic cholecystectomy (main procedure)
some relief by assuming flexed posture
Gallstone facts18
± nausea and vomiting with considerable retching
Gallstones form from bile in the gall bladder and sometimes in the bile duct (especially post-
often a history of biliary pain (may be mild) or jaundice
cholecystectomy)
often precipitated by a fatty meal
Two main types—cholesterol and pigment (bilirubin)

DxT severe pain + vomiting + pain radiation → biliary colic Lifetime risk in first world countries is 12–20%

70% of people with gall bladder stones are asymptomatic, but risk of developing symptoms is
about 15% over 20 years
Signs
Cholecystectomy almost never indicated for asymptomatic stones
Patient anxious and restless, usually in a flexed position or rolling in agony
Complications: acute cholecystitis (may lead to empyema, perforation, cholecystoenteric
Localised tenderness (Murphy sign) over fundus of gall bladder (on transpyloric plane) fistula), obstructive jaundice, cholangitis (infection with pain) and acute pancreatitis
(pancreatic duct obstruction)
Slight rigidity
Microlithiasis (biliary ‘sludge’)
Diagnosis
This condition, which causes biliary ‘colic’ due to spasm of the sphincter of Oddi, often follows
Abdominal ultrasound (to diagnose gallstones) prolonged fasting. Cholecystectomy may be necessary.
Helical CT
Acute cholecystitis
Intravenous cholangiography if previous cholecystectomy
Cholecystitis is associated with gallstones in over 90% of cases18 and there is usually a past
LFTs may show elevated bilirubin and alkaline phosphatase history of biliary pain. It occurs when a calculus becomes impacted in the cystic duct and
inflammation develops. It is very common in the elderly. The acute attack is often precipitated by
Management a large or fatty meal. The causative organisms are usually aerobic bowel flora (e.g. E. coli,
Klebsiella species and Enterococcus faecalis).
Pain relief:18
Clinical features
morphine 2.5–5 mg IV statim then titrate to effect (age-dependent; use lower end of range if
≥70 years) Steady severe pain and tenderness

or Localised to right hypochondrium or epigastrium

fentanyl 50–100 mcg IV statim then titrate to effect May be referred to the right infrascapular area

or Anorexia, nausea and vomiting (bile) in about 75%

 Aggravated by deep inspiration alcoholism (35%) or gallstone disease (40–50%). It is commonly precipitated by fatty foods and
alcohol, mumps, hypertriglyceridaemia and some antidiabetic medications, e.g. gliptins.
Signs
Clinical features
Patient tends to lie still
See FIGURE 24.14 .
Localised tenderness over gall bladder (positive Murphy sign)

Muscle guarding

Rebound tenderness

Palpable gall bladder (approximately 15%)

Jaundice (approximately 15%)

± Fever

Diagnosis
Ultrasound: gallstones but not specific for cholecystitis

HIDA scan: demonstrates obstructed cystic duct—the usual cause

WCC and CRP: can be elevated

Treatment
Bed rest

IV fluids

Nil orally Page 272

Analgesics

Antibiotics FIGURE 24.14 Typical pain distribution of acute pancreatitis

Cholecystectomy
Typical clinical features are:
If evidence of sepsis, use amoxi/ampicillin 1 g IV, 6 hourly plus gentamicin 4–6 mg/kg IV
sudden onset of severe constant deep epigastric pain but onset can be steady
daily.19
lasts hours or a day or so
Change to amoxicillin + clavulanate 875 + 125 mg (o) 12 hourly when afebrile.
pain may radiate to back
Acute pancreatitis
pain may be relieved by sitting forwards
With acute pancreatitis there may be a past history of previous attacks or a past history of
 nausea and vomiting Use morphine 2.5–5 mg IV or fentanyl 30–100 mcg IV statim then titrate to effect.

sweating and weakness May require ERCP if obstructive LFTs.

DxT severe pain + nausea and vomiting + relative lack of abdominal

signs → acute pancreatitis
Autoimmune pancreatitis18
This IgG4-related disorder presents with abdominal pain, jaundice and weight loss. Diagnosis is
by a pancreatic mass or enlargement on imaging and serology (IgG4). Treatment is with
Signs corticosteroids.
Patient is weak, pale, sweating and anxious
Chronic pancreatitis
Tender in epigastrium
In comparison to acute pancreatitis, the pain of chronic pancreatitis is milder but more persistent.
Lack of guarding, rigidity or rebound There may be epigastric pain boring through to the back. Symptoms may relapse and worsen.
Investigate with CT scan and ultrasound and faecal elastase (N >200 µg/g stool: pancreastic
Reduced bowel sounds (may be absent if ileus) exocrine insufficiency < 200 µg/g stool). MRCP is the most sensitive imaging study. The person
with this problem is often labelled as ‘gastritis’, ‘ulcer’ or even ‘neurotic’ because of the
± Abdominal distension indeterminate nature of the pain. Malabsorption and diabetes may result from pancreatitis.
Weight loss and steatorrhoea become prominent features. Page 273
Fever, tachycardia ± shock
Pain associated with pancreatic cancer is indistinguishable from that of chronic pancreatitis but
Diagnosis generally tends to be more severe and more prominent in the back. Use paracetamol for pain.
Give pancreatic enzyme supplements (e.g. pancrelipase) for malabsorption.
WCC—leucocytosis

Serum lipase (preferred as more sensitive and specific) or serum amylase Acute diverticulitis
CRP—elevated The person with acute diverticulitis is usually over 40 years of age, with longstanding,
grumbling, left-sided abdominal pain and constipation, but can have an irregular bowel habit. It
Serum glucose ↑, calcium ↓ occurs in less than 10% of those with diverticular disorder.4 (Refer to CHAPTER 34 .)

Blood gases: PaO2 (?pulmonary complications) Clinical features

LFTs: ?obstructive pattern See FIGURE 24.15 .

Plain X-ray, may be sentinel loop

CT scan, best after 48 hours (especially for complications)

Ultrasound better for detecting cysts and unsuspected gallstones

Management19
Arrange admission to hospital (but many cases are mild).

Basic treatment is bed rest, nil orally, nasogastric suction (if vomiting), IV fluids and
analgesics (morphine). Treat hyperglycaemia or hypocalcaemia.
 May be inflammatory mass in LIF

Investigations
FBE: leucocytosis

Elevated ESR

Pus and blood in stools

Abdominal ultrasound/CT scan (especially—can detect fistula, abscess or perforation)

Erect chest X-ray

Erect and supine abdominal X-ray

Complications
Bleeding (can be profuse, especially in elderly)

Perforation (high mortality)

Abscess

Peritonitis

Fistula (bladder, vagina, small bowel)

Intestinal obstruction
FIGURE 24.15 Typical pain distribution of acute diverticulitis
Treatment19
Typical clinical features are:
Hospital admission (unless mild)
acute onset of pain in the left iliac fossa
Rest the GIT: nil orally, drip and suction
pain increased with walking and change of position
One landmark study showed that a ‘wait and see’ approach without antibiotics can be
usually associated with constipation considered appropriate in patients with an uncomplicated initial attack of diverticulitis20

Analgesics
DxT acute pain + left-sided radiation + fever → acute diverticulitis
Antibiotics:

mild cases: amoxicillin + clavulanate 875/125 mg (o) 12 hourly for 5 days

Signs
or
Tenderness, guarding and rigidity in LIF
metronidazole + cephalexin
Fever
 severe cases: amoxi/ampicillin 1 g IV 6 hourly Other investigations that may help:

+ MRI

gentamicin 5–7 mg/kg IV/day laparoscopy—this may allow the identification of chronic adhesive obstruction, small bowel
tumours or inflammation, or intra-abdominal malignancy
+

metronidazole 500 mg IV 12 hourly Red flags for organic disease12

or
Older person
metronidazole + ceftriaxone 1 g IV/day
Nocturnal pain or diarrhoea
Surgery for complications
Progressive symptoms
Screening colonoscopy after acute episode
Rectal bleeding
Peritonitis Fever
Can be generalised due to intra-abdominal sepsis following perforation of a viscus, e.g. peptic Anaemia
ulcer, appendix, diverticulum. Typical signs are as for perforated peptic ulcer. Key investigations
are peritoneal fluid culture and CT scan. Surgical intervention is usually required. Usual Weight loss
antibiotic treatment is IV cephalosporins or amoxi/ampicillin + gentamicin + metronidazole.21
Spontaneous bacterial peritonitis can occur in any patient with ascites. Abdominal mass

Faecal incontinence or urgency (recent onset)

Abdominal ‘stitch’
The common ‘stitch in the side’ is the experience of a sharp, stabbing pain in the epigastric or
hypochondrium regions of the abdomen, usually during running. The sufferer should: Chronic appendicitis
stop and rest, then walk—don’t run It is possible to have recurrent episodes of subacute inflammation of the appendix. If suspected,
laparoscopy performed during or soon after an attack is diagnostic.
apply deep massage to the area with the palps (fleshy tips) of the middle three fingers

perform slow or deep breathing Adhesions

Page 274 There is no firm evidence that intra-abdominal adhesions are painful apart from complications
such as bowel obstruction. Sometimes patients are ‘cured’ by laparoscopic divisions of
Chronic or recurrent abdominal pain adhesions.
Advances in technology, particularly the use of ultrasound, CT scanning and endoscopy, have
increased the opportunities for diagnosing chronic or recurrent abdominal pain in adults. Peptic ulcer (gastric or duodenal)
If there are ‘red flag’ symptoms (see box) and the above investigations are unavailable, consider See CHAPTER 36 .
the possibility of conditions such as pancreatic cancer, ovarian cancer, small bowel tumours,
mesenteric ischaemia, Crohn disease, metabolic disorders such as lactase deficiency, and rarer Clinical features
conditions as outlined in TABLE 24.2 .
 Usually central epigastric pain
Patient education resources
Burning pain
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Relieved by antacids or food or milk
Appendicitis
DU: usually 2–3 hours after meals or wakes from sleep
Diverticular disease
GU: may occur after meals but inconsistent relationship to eating
Gallstones
When to refer Infant colic

All cases of acute abdominal pain where urgent surgical intervention is required Irritable bowel

Special urgency and early diagnosis is important with: ruptured ectopic pregnancy, ruptured Kidney stones
AAA, mesenteric artery occlusion, ruptured viscus, perforated peptic ulcer, strangulated
obstructed bowel, intussusception Pancreatitis

All cases where surgery is necessary Page 275

Complex medical causes, such as diabetic ketoacidosis and porphyria References

Have a low threshold for referral if acute cause is not apparent
Practice tips
Special caution is required at the extremes of age when the symptoms and signs
do not often reflect the seriousness of the underlying pathology.
If an elderly person presents with intense acute abdominal pain, inadequately
relieved by strong parenteral injections, likely causes include mesenteric artery
occlusion, acute pancreatitis and ruptured or dissecting aortic aneurysm.
1 De Wit NJ. Acute abdominal pain. In: Jones R et al., eds. Oxford Textbook of Primary
Care. Vol. 2. Oxford: Oxford University Press, 2004: 738–40.
2 Murtagh J. The Anatomy of a Rural Practice. Melbourne: Monash University Monograph,
1980: 34.
3 Sandler G, Fry J. Chronic abdominal pain. In: Early Clinical Diagnosis. Lancaster: MTP
Press, 1986: 177–86.
4 Sandler G, Fry J. Acute abdominal pain. In: Early Clinical Diagnosis. Lancaster: MTP
Press, 1986: 137–76.

When an inflamed appendix ruptures, the abdominal pain improves for a 5 Cartwright SL, Knudson MP. Diagnostic imaging of acute abdominal pain in adults. Am
significant period of time. Fam Physician, 2015 Apr 1; 91(7): 452–9.

Consider gallstones and duodenal ulcer if the person is woken (e.g. at 2–3 am)
with abdominal pain.
Pus cells and red cells may be present in the urine with appendicitis when a pelvic
appendix involves the bladder and a retrocaecal appendix involves the ureter.
Consider diabetic ketoacidosis in a person with abdominal pain, tenderness and
rigidity and deep sighing respiration.
6 Holland AJ. Acute abdominal pain in children. Australian Doctor, 2009; 7 August: 25–32.
7 Hutson JM, Woodward AA, Beasley SW. Jones’ Clinical Paediatric Surgery. Oxford:
Blackwell Publishing, 2003: 139–45.
8 Dilley A. Abdominal surgical problems in children. Medical Observer, 23 April 2004: 31–
4.
9 Appleberg M. Abdominal aortic aneurysms: how to treat. Australian Doctor, 2001; 22
June: iii–iv.
10 Hunt P, Marshall V. Clinical Problems in General Surgery. Sydney: Butterworths, 1991: Page 276
193–243.

11 Humes DJ. Acute appendicitis. BMJ, 2006; 333: 530–4.

12 Rao P, Boland G. Imaging of acute right lower abdominal quadrant pain. Clin Radiol,
1998; 53: 639–49. 25 Arthritis
13 Ashrafizadeh A et al. Non-operative treatment of acute appendicitis: is this possible?
Medicine Today, August 2017; 18: 8.

14 Crawford J, Jarvis T, Hugh T. Acute abdominal pain: how to treat. Australian Doctor,
2008; 2 August: 27–34. Rheumatic disorders are common in old age: much of rheumatology is geriatric and much of
geriatrics is rheumatology.
15 Acute pain. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic Guidelines
Limited. www.tg.org.au, accessed January 2020. DR FRANK DUDLEY HART1 1983
16 Sewell J et al. Urolithiasis—ten things every general practitioner should know. Aust Fam The clinical evaluation of the presentation of arthralgia (painful joints) or arthritis (inflammation
Physician, 2017; 46(9): 648–52. of the joints) can be a difficult and challenging exercise because it can be a presentation of many
systemic disorders, some of which are rare. Important considerations are sex, age, the pattern of
17 Laerum E et al. Oral diclofenac in the treatment of recurrent kidney colic. A double-blind joint involvement (monoarticular or polyarticular), immediate and more remote history, family
comparison with placebo. Eur Urol, 1995; 28: 108–11. history and drug use—all of which may provide important diagnostic clues. Polyarthritis, which
implies the active inflammation of five or more joints, presents a more challenging diagnostic
18 Biliary and pancreatic disorders [published 2016]. In: Therapeutic Guidelines [digital].
problem.
Melbourne: Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed January
2019.

19 Intra-abdominal infection [published 2019]. In: Therapeutic Guidelines [digital].

Melbourne: Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed January Key facts and checkpoints
2019.
In a UK National Morbidity Survey, joint symptoms composed just over 7% of all
20 Daniels L et al. Randomized clinical trial of observational versus antibiotic treatment for morbidity presenting to the family doctor.2
the first episode of CT-proven uncomplicated acute diverticulitis. Br J Surg, 2017; 104(1):
52–61. The commonest cause was osteoarthritis (OA), which affects 5–10% of the
population.
21 Tooceli J, Wright T. Gallstones. Med J Aust, 1998; 169: 166–71.
Almost 2% of Australians report having rheumatoid arthritis (RA).3

There should be no systemic manifestations with OA.

One-quarter of disability in elderly people is due to severe joint disease.

Systemic diseases that may predispose to, or present with, an arthropathy

include the connective tissue disorders, diabetes mellitus, a bleeding disorder,
previous tuberculosis, the spondyloarthropathies such as psoriasis, SBE,
hepatitis B, rheumatic fever, the various vasculitic or arteritic syndromes (the
vasculitides) such as Wegener granulomatosis, HIV infection, lung cancer,
haemochromatosis, sarcoidosis, hyperparathyroidism, Whipple disease and
 Paget disease. connective tissue disorders: SLE, scleroderma, polymyositis and
dermatomyositis, psoriasis, other
The pain of inflammatory disease is worse at rest (e.g. on waking in the morning,
also with stiffness) and improved by activity. Pitfalls (often missed)
Fibromyalgia syndrome
Early diagnosis and management of RA results in considerably better outcomes. Polymyalgia rheumatica
Causes of monoarthritis include crystal deposition disease, sepsis, osteoarthritis, Crystal deposition:
trauma and spondyloarthritis. gout
pyrophosphate (pseudogout)
Gout and septic arthritis have a recognised cause and cure.
Haemarthrosis
Acute gout is 4–6 times more prevalent in men than women; however, it Dengue fever
becomes more common in postmenopausal women, particularly those on Lyme disease
thiazide diuretics.4 Ross River virus
Avascular necrosis
Rarities:
A diagnostic approach Other vasculitides (e.g. polyarteritis nodosa)
Haemochromatosis
A summary of the diagnostic strategy model is presented in TABLE 25.1 . Sarcoidosis
Whipple disease
Table 25.1 Hyperparathyroidism
Arthralgia: diagnostic strategy model
Familial Mediterranean fever
Amyloidosis
Probability diagnosis
Osteoarthritis Pigmented villonodular synovitis
Viral polyarthritis (e.g. parvovirus) Seven masquerades checklist
Depression (unlikely)
Serious disorders not to be missed
Infection: Diabetes (?arthropathy)
rheumatic fever Drugs (esp. narcotics)
endocarditis Endocrine disorder (thyroid storm, Addison disease)
tuberculosis Spinal dysfunction (possible spondyloarthropathies)
brucellosis Is the patient trying to tell me something?
pyogenic (septic) arthritis: e.g. gonococcus, Staphylococcus, Kingella kingae Always a consideration with pain. Psychogenic factors aggravate chronic arthritic
HIV arthropathy conditions.
dengue fever
Cancer:
bronchogenic carcinoma Probability diagnosis
leukaemia/lymphoma
The probability diagnoses for the person presenting with arthritis are:
secondary malignancy
Other: osteoarthritis (mono- or polyarthritis)
rheumatoid arthritis (RA)
 viral arthritis (if acute and polyarthritis)
OA is very common in general practice. It may be primary, which is usually symmetrical, and
can affect many joints. This clinical pattern is different from secondary OA, which follows injury
and other wear-and-tear causes.
Viral polyarthritis is more common than realised. It presents usually within 10 days of the
infection, and is usually mild.
Clinical features (viral arthritis)
Acute onset
Polyarthritis
Symmetric inflammation
Mainly hands and feet
Rash—persists for 24 hours minimum
Terminates rapidly—over days
FBE: lymphopaenia, lymphocytosis, ± atypical lymphocytes
It tends to terminate quickly and spontaneously without permanent damage to joints. It is caused
by many viruses, including those causing influenza, mumps, rubella, varicella, hepatitis B and C,
infectious mononucleosis (more muscle aching), cytomegalovirus, parvovirus, Australian
epidemic polyarthritis due to the alphaviruses, Ross River virus and Barmah Forest virus.
Adenovirus is common in children. COVID-19 causes arthralgia in around 15% of cases.5
Page 277
Serious disorders not to be missed
These include rheumatoid arthritis (RA), which can start as a monoarthritis; pyogenic arthritis,
including gonococcus, Staphylococcus, Kingella sp. and Streptococcus infections; tuberculosis;
rheumatic fever; and bacterial endocarditis. Early diagnosis of septic arthritis is very important as
it can destroy a hip in 24 hours.
It is important to be forever watchful for rheumatic fever (RF). It presents typically as a
migratory polyarthritis involving large joints sequentially, one becoming hot, red, swollen and
very painful as the other subsides. It rarely lasts more than 5 days in any one joint.
A flitting polyarthritis can also occur with endocarditis in addition to a systemic upset and a
cardiac murmur. Gonococcal infection may present in a single joint or as flitting polyarthritis,
often accompanied by a rash. Brucellosis can cause arthritis and sacroiliitis and can be confused
with the spondyloarthropathies.
HIV infection can present as a chronic oligoarticular asymmetrical arthritis.6 It can also involve a
rash very similar to psoriasis. Tuberculosis can also present as an arthritis.
Connective tissue disorders may be involved. They include SLE, progressive systemic sclerosis
(scleroderma) and dermatomyositis. Extra-articular features include rash, sicca symptoms, red
eyes, chronic diarrhoea, oral ulcers and urethral discharge. It is most inappropriate to settle with
a general diagnosis such as ‘rheumatism’ or ‘arthritis’ and where doubtful it is important to find
the specific entity causing the problem. Page 278
In respect to malignant disease, arthralgia is associated with acute leukaemia, lymphoma and
neuroblastoma in children and with bronchial carcinoma, which may cause hypertrophic
osteoarthropathy, especially of the wrist and ankle (not a true arthritis but simulates it).
Occasionally, polyarthritis may be the first feature of an occult neoplasm. Monoarticular
metastatic disease may involve the knee (usually from lung or breast).
Red flag pointers for polyarthritis
Fever
Weight loss
Profuse rash
Lymphadenopathy
Cardiac murmur
Severe pain and disability
Malaise and fatigue
Vasculitic signs
Two or more systems involved
Pitfalls
A common pitfall is gout, particularly in older women taking diuretics, whose osteoarthritic
joints, especially of the hand, can be affected. The condition is often referred to as nodular gout
and does not usually present as acute arthritis.
Fibromyalgia syndrome is a real puzzle (see CHAPTER 27 ) as it can mimic the connective
tissue disorders in its early presentation—typically a woman in the third or fourth decade.
Another ‘trap’ is haemarthrosis in a patient with a bleeding disorder.
Infective causes that may be overlooked are dengue fever, especially in travellers returning from
a tropical or subtropical area, and Lyme disease, which is now surfacing in many countries,
especially where ticks are found.
There are many rare causes of arthritis. Sarcoidosis causes two forms: an acute benign form,
usually in the ankles and knees, and a chronic form with longstanding sarcoidosis that involves
joints (large or small) adjacent to underlying bone disease.
Then there are the uncommon vasculitides, which can cause confusion in diagnosis. This group
includes polyarteritis nodosa, hypersensitive vasculitis, polymyalgia rheumatica/giant cell
arteritis, Wegener granulomatosis, Henoch–Schönlein purpura and Behçet syndrome.
Haemochromatosis can present with a degenerative arthropathy that characteristically affects the
second or third metacarpophalangeal joints.6
Other rare causes of arthritis are erythema nodosum, serum sickness and Sjögren syndrome.
General pitfalls
Not searching beyond RA when an RA pattern polyarthritis may be part of another systemic
disease
Failing to search for some cause of arthritis other than OA, especially in an elderly patient (i.e.
underdiagnosing); an important example of this is polymyalgia rheumatica
Failing to consider the various drug interactions between NSAIDs, over-the-counter
medications and other drugs used by the elderly
Underdiagnosing and misdiagnosing through lack of appreciation of the many causes of
arthritis, especially those presenting as part of a systemic disease
Seven masquerades
Drug-induced arthritis usually affects the hands and is generally symmetrical. The drugs may
induce autoantibodies (e.g. ANA, ANCA). Those that induce a lupus syndrome include the anti-
epileptics, chlorpromazine and some cardiac drugs. Various antibiotics have been associated
with arthralgia, e.g. minocycline, while diuretics, especially frusemide and thiazides, can
precipitate gout. The problem usually resolves promptly after withdrawal of the agent.7
Intravenous drug abuse may be associated with septic arthritis, hepatitis B and C, HIV-associated
arthropathy, SBE with arthritis and serum sickness reactions.
Hyperthyroidism can uncommonly cause acropathy (clubbing and swelling of the fingers) and
may present as pseudogout, while hypothyroidism can present with an arthropathy or cause
proximal muscle pain, stiffness and weakness. Diabetes mellitus may cause an arthropathy that
can be painless or mild to moderately painful.
The spondyloarthropathies may be a causative factor. They often present with an acute
monoarthritis, particularly in teenagers, some time before causing sacroiliitis and spondylitis.
Page 279
Psychogenic considerations
Although ‘arthralgia’ is an uncommon complaint in psychoneurotic disorders, any pain
syndrome can be a significant manifestation. The usual cause of arthralgia is inflammation in the
joint—that is, arthritis—but a functional cause is encountered from time to time.
Furthermore, some patients who are unfortunate enough to acquire arthritis, especially the more
serious disorders, certainly develop ongoing emotional and psychological problems that appear
to aggravate their total problem.
So-called ‘growing pains’ of the lower limb are common in children, and the physical
examination and investigations are normal. Parents need to be reassured that it is a benign
condition, while recognising that emotional factors may be quite significant. As Apley pointed
out, ‘physical growth is not painful, but emotional growth can hurt like hell’.8
The clinical approach
A priority is to determine whether or not the arthritis is caused by a primary rheumatic disorder
or whether it is part of an underlying systemic disorder.
History
Very careful enquiry about the exact onset of the arthritis is important. This includes whether it
was acute or insidious, and confined to specific joints or flitting as in rheumatic fever and
sometimes in infective endocarditis. Is it a true polyarthritis or monoarthritis? Symmetrical or
asymmetrical? It is also important to differentiate between arthralgia (pains in or around the
joints) and arthritis (inflammation of the joints). Not all arthralgia is arthritis.
A family history is important because a positive family history is associated with conditions such
as RA (rarely), ankylosing spondylitis, connective tissue disorders (rarely), psoriasis, gout,
pseudogout and haemophilia.
A very hot, red, swollen joint suggests either infection or crystal arthritis.
Key questions
Can you carefully point out exactly where you feel the pain?
Does the pain move from joint to joint or stay in the same joint?
Are you aware of anything that brought on the pain?
 Does the pain disturb you at night? Joint swelling:

Do your joints feel very sore or stiff when you wake up in the morning? acute (1–4 hours) with intense pain = blood infection or crystals (e.g. gout)

What effect does exercise or activity have on the pain or stiffness? subacute (1–2 days) and soft = fluid (synovial effusion)

Have you had an injury in the past to your painful joint(s)? chronic and bony = osteoarthritis

Have you got a skin rash? Is it new? chronic and soft/boggy = synovial proliferation

Have you had a fever, sweats or chills? A coarse crepitus suggests OA. Each joint should be examined specifically. Inspection should
note the presence of lumps or bumps such as Heberden nodes on the osteoarthritic DIP joints of
Do you get very tired, weak or out of sorts? the hands, Bouchard nodes on the osteoarthritic PIP joints of the hands and rheumatoid nodules,
which are the only pathognomonic finding of RA and gouty tophi. Signs that may be of
Have you noticed any change in the colour of your urine? diagnostic help are presented in FIGURE 25.1 . Page 280

Have you had a sore throat?

Have you had acute pain in your big toe or in other joints before?

Do you have a history of psoriasis?

Do you have a history of rheumatic fever?

Do you have pain in your neck or lower back or in other joints?

Have you had any diarrhoea?

Are you at risk of getting an STI? Have you had a vaginal/penile discharge?

Have you had any problems with your eyes?

What drugs are you taking? Are you taking fluid tablets (diuretics)?

How much alcohol would you drink a day?

Have you travelled overseas recently?

Have you been drinking untreated milk recently?

Have you had cats as pets, especially as a child (associated with RA)?9

Examination
A systematic examination of the affected joint or joints should be performed, looking for signs of
inflammation, deformity, swelling and limitation of movement. Tenderness and warmth indicates
inflammatory activity. Erythema indicates gouty arthritis or other crystallopathy, rheumatic fever
or septic arthritis.
 FIGURE 25.1 Physical examination: possible findings to consider in diagnosis
FIGURE 25.2 Joints typically affected by various arthropathies
The specific inflamed joint or joints may give an indication of the disease process. Typical joints
affected by various arthropathies are illustrated in FIGURE 25.2 . Page 281
Investigations
TABLE 25.2 lists the many possible investigations that are used to reach a diagnosis. Clinical
acumen permits a judicious selection of particular tests, which is preferable to ordering an
expensive battery of tests in a scattergun approach.

Table 25.2 Investigations for arthritis

 Appropriate tests can be selected (thoughtfully) from the following:
urine analysis: blood, protein, sugar
synovial fluid: analysis, culture
radiology—plain X-ray*
blood and other cultures
haemoglobin and differential WCC
ESR*
C-reactive protein
serum uric acid, creatinine*
24-hour urinary uric acid
rheumatoid factor
anti-CCP (cyclic citrullinated peptide) antibody*
antinuclear antibody (screening test for SLE)*
dsDNA antibodies
FIGURE 25.3 Time course of IgG and IgM antibodies in viral arthritis
extractable nuclear antigen (ENA) antibodies
HLA-B27 (poor predictive value) Plain X-ray is invaluable, although in some conditions radiological changes may be apparent
various specific serological tests (e.g. Australian epidemic polyarthritis, rubella, only when the disease is well established. Typical X-ray changes for common conditions are
hepatitis B, Barmah Forest virus, parvovirus) presented in FIGURE 25.4 . Arthrography has limited value in the diagnosis of polyarthritis but
is very useful for specific joints such as the shoulder and the knee. Ultrasound examination for
HIV serology
joints such as the shoulder and the hip can be very useful.
antistreptolysin O titre
streptococcal anti-DNase B
arthroscopy and biopsy
bone scan

*Key tests

It is important to keep in mind the many specific serological tests to detect infective causes of
arthralgia. These include Australian epidemic polyarthritis, rubella, Brucella, hepatitis B,
gonococcus, mycoplasma, HIV tests, parvovirus and Barmah Forest virus. Lyme disease is not
endemic in Australian ticks,10 but testing may be relevant for those who have travelled,
particularly to Europe.

In reference to viral serology, a positive immunoglobulin M (IgM) antibody test is presumptive

evidence of recent infection and is likely to be of diagnostic significance in this clinical context.
However, sometimes IgM antibodies can persist for months or years.11 A positive IgG antibody
result indicates previous exposure to the virus but a single positive titre is of no diagnostic
significance. Seroconversion or at least a fourfold rise on paired sera confirms recent infection
(see FIG. 25.3 ). Page 282
 FIGURE 25.4 X-rays for common arthritic conditions: typical changes

HLA-B27 should not be used for arthritis screening. It has a high sensitivity for ankylosing
spondylitis, but low specificity, and should rarely be ordered.11

The various immunological tests for diagnosis of the connective tissue disorders are outlined
with the description of each condition. Such screening tests include:

rheumatoid factor and anti-CCP

antinuclear antibodies

dsDNA antibodies

The LE cell test has been superseded by the antinuclear, dsDNA and ENA (especially Sm)
antibody tests but the latter should only be performed if there is an elevated ANA test.11

Arthritis in children
Arthralgia (joint pain) is a common problem in childhood and, although arthritis is rare, the
complaint demands considerable respect because of the many serious problems causing it.
Particular consideration should be given to rheumatic fever, septic arthritis, osteomyelitis and
meningoccaemia. Rheumatic fever typically occurs in children and young adults, the first attack
usually occurring between 5 and 15 years of age.

Arthritis may be part of an infectious disease such as rheumatic fever, rubella, mumps, varicella,
cytomegalovirus infection, erythema infectiosum (human parvovirus), influenza, COVID-19 or
other viral infection, and is occasionally encountered with Henoch–Schönlein purpura. Actually,
viral arthritis is very common in children. An FBE is helpful as it may show lymphopaenia,
lymphocytosis or atypical lymphocytes.1 It is worth noting that underlying bone tumours can
present as joint pain if the tumour is adjacent to the joint. Page 283

Note: Acute-onset monoarticular arthritis associated with fever is septic until proven otherwise.

Juvenile idiopathic arthritis

JIA, also known as juvenile chronic arthritis and juvenile rheumatoid arthritis (US), is defined as
a chronic arthritis persisting for a minimum of 6 weeks (some criteria suggest 3 months) in one
or more joints in a child younger than 16 years.8 It is rare, affecting only about 1 in 1000
children, but produces profound medical and psychosocial problems.

The commonest types of JIA are oligoarticular (pauciarticular) arthritis, affecting four or fewer
joints (about 50%), and polyarticular arthritis, affecting five or more joints (about 40%).
Systemic onset arthritis, previously known as Still syndrome, accounts for about 10% of cases. It
is usually seen in children under the age of 5 but can occur throughout childhood. The child can 1 major + 2 or more minor criteria
present with a high remittent fever and coppery red rash, plus other features, including
lymphadenopathy, splenomegaly and pericarditis. Arthritis is not an initial feature but develops in the presence of supporting evidence of preceding Group A streptococcal (GAS) infection.
ultimately, usually involving the small joints of the hands, wrists, knees, ankles and
metatarsophalangeal joints. Major criteria

These children should be referred once the problem is suspected or recognised. JIA is not a Carditis
benign disease—50% have persistent active disease as adults.
Polyarthritis
Arthritis in perspective Chorea (involuntary abnormal movements)
Five per cent of all children complain of recurrent lower limb pain, which often awakens them Subcutaneous nodules—in crops on elbows, wrists, knees or ankles
from their sleep. There may be emotional factors involved and parents need appropriate
reassurance. A careful history and physical examination are essential, and perhaps simple basic Erythema marginatum—spread in a circular fashion
investigations may be appropriate. As Rudge8 points out, we have to be vigilant against
underdiagnosis, misdiagnosis and overdiagnosis. Refer to growing pains (CHAPTER 84 ) and Minor criteria
post-activity musculoskeletal pain (CHAPTER 55 ).
Fever (≥38°C)
Rheumatic fever Previous RF or rheumatic heart disease
RF is an inflammatory disorder that typically occurs in children and young adults following a
Monoarthralgia
group A Streptococcus pyogenes infection. It is common in developing countries and among
Aboriginal and Torres Strait Islander people (see CHAPTER 127 ) but uncommon in first world Raised ESR >30 mm/hr or CRP >30 mg/L
countries.12
ECG—prolonged PR interval
Clinical features
Investigations
Age 5–15 years (can be older)
A selective combination of:
Acute-onset fever, joint pains, malaise
FBC
Flitting arthralgia mainly in leg (knees, ankles) and arm (elbows and wrists)
throat swab for GAS
One joint settles as the other is affected
ESR/CRP
May follow a sore throat
streptococcal ASOT
However, the symptoms depend on the organs affected and arthritis may be absent.
streptococcal anti-DNase B (repeat in 10–14 days)
Diagnosis
plus ECG and echocardiogram (if ↑ PR) and CXR
Based on clinical criteria:
Treatment
2 or more major criteria
Page 284
Rest in bed (if carditis, for up to 2 weeks)
or
 GAS sensitive antibiotics, e.g. benzathine penicillin 900 mg IM (450 mg in child <20 kg)
statim or phenoxymethylpenicillin 500 mg (o) bd 10 days
Paracetamol 15 mg/kg (o) 4 hourly (max. 60 mg/kg/day); aspirin or naproxen for arthritis
Diuretics for carditis (may be ACE inhibitor and corticosteroids)
Prophylactic long-term penicillin
Septic arthritis
Acute sepsis (see FIG. 25.5 ) can affect any joint at any age, although it is more common in
children. It evolves over hours or days and can rapidly destroy a joint structure. It is an
emergency in the hip joint of children. Check for IV drug use. The commonest organisms are S.
aureus, Streptococci, Kingella kingae and N. gonorrhoea. Diagnosis is by blood culture and
synovial fluid analysis and culture. Treatment is with drainage and washout of the joint and IV
followed by oral antibiotics, e.g. di/flucloxacillin. Orthopaedic referral recommended.
FIGURE 25.5 Septic arthritis in a young girl who presented with a painful
swollen left knee and difficulty walking. A knee aspiration revealed turbid fluid
with elevated leukocytes. The joint fluid culture grew Staphylococcus aureus.
Arthritis in the elderly
OA is very common with advancing age and for this reason care has to be taken not to simply
attribute other causes of arthritis to OA. Other musculoskeletal conditions that become more
prevalent with increasing age are:
polymyalgia rheumatica
Paget disease of bone
avascular necrosis
gout
pseudogout (pyrophosphate arthropathy)
malignancy (e.g. bronchial carcinoma)
Pseudogout
This crystal deposition arthropathy (chondrocalcinosis) is noted by its occurrence in people over
60 years. It usually affects the knee joint but can involve other joints.
Rheumatoid arthritis
Although it usually begins between the ages of 30 and 40 it can occur in older people, when it
occasionally begins suddenly and dramatically. This is called ‘explosive’ RA and fortunately
tends to respond to small doses of prednisolone and has a good prognosis.13 RA in the elderly
can present as a polymyalgia rheumatica syndrome.
Osteoarthritis
OA is the most common type of arthritis, occurring in about 10% of the adult population and in
50% of those aged over 60.12 It is a degenerative disease of cartilage and may be primary
idiopathic or secondary to causes such as trauma and mechanical problems, septic arthritis,
crystallopathy or previous inflammatory disorders, or structural disorders such as SCFE and
Perthes disorder. OA of the hips and knees has a strong association with being overweight or
obese.
The arthritis
Primary OA is usually symmetrical and can affect many joints. Unlike other inflammatory
disease the pain is worse on initiating movement and loading the joint, and eased by rest. OA is
usually associated with stiffness, especially after activity, in contrast to RA.
Joints involved
In primary OA all the synovial joints may be involved, but the main ones are:
first carpometacarpal (CMC) joint of thumb
first metatarsophalangeal (MTP) joint of great toe
 distal interphalangeal (DIP) joints of hands Pain: worse by the end of the day, aggravated by use, relieved by rest, worse in cold and damp

Other joints that are affected significantly are the proximal interphalangeal joints, the knees, Variable morning stiffness
hips, acromioclavicular joints and joints of the spine, especially the facet joints of the cervical
(C5–6, C6–7) and lumbar regions (L3–4, L4–5, L5–S1) (see FIG. 25.6 ). Variable disability

Page 285 Signs

(See FIG. 25.7 .)

FIGURE 25.7 Typical clinical features of osteoarthritis of the hand

Hard and bony swelling

Crepitus

Signs of inflammation (mild), warmth, pain

Restricted movements; inability to weight bear

FIGURE 25.6 Osteoarthritis: typical joint distribution
Joint deformity
Clinical features
Note: There should be no systemic manifestations.
Crystal arthropathy can complicate OA, especially in the fingers of people taking diuretics (e.g.
nodular gout).
Differentiation from an inflammatory arthropathy
OA does not exhibit the typical inflammatory pattern. The clinical diagnosis is based on:
gradual onset of pain after activity (worse towards the end of the day)
the pattern of joint involvement
the lack of soft tissue swelling
the transient nature of the joint stiffness or gelling
takes <30 minutes to settle after rest while inflammatory arthritis takes at least 30 minutes
Diagnosis
The diagnosis is clinical and radiological but the degree of changes on X-ray do not always
parallel levels of symptoms.12
X-ray findings
Joint space narrowing with sclerosis of subchondral bone
Formation of osteophytes on the joint margins or in ligamentous attachments
Cystic areas in the subchondral bone
Altered shape of bone ends
Principles of management14
Provide explanation and reassurance, including patient education hand-outs
Correct modifiable risk factors: obesity, injury, overuse
Control pain and maintain function with appropriate drugs
Suggest judicious activity, exercise and physical therapy: regular exercise has strong evidence
of benefit for hip and knee OA; discourage exercise avoidance14
For weight-bearing joints, there is evidence for weight loss of at least 5–7.5% for those with
BMI >25 kg/m2
Consider factors lowering the coping threshold (e.g. stress, depression, anxiety, overactivity)
Page 286
Referral for surgery should be used judiciously, as surgeons differ in their enthusiasm for
following the best independent evidence for surgical interventions. For example, the Australian
Knee Society’s arthroscopy ‘position statement’15 recommends against arthroscopy for knee OA
except in a small number of circumstances (particularly knee locking), which goes against the
vast majority of those having had debridement or meniscectomies in the age of arthroscopies.
Refer for consideration of joint replacement and for advice on joints causing intractable pain or
disability. Hand surgery can offer good pain relief and functional improvement. Osteotomies
have a limited place for a varus or valgus deformity of the knee.
Treatment (least useful interventions towards the end)14
Explanation. Provide patient education and reassurance that arthritis is not the crippling
disease perceived by most patients.
Exercise. A graduated exercise program is essential to maintain joint function. Aim for a good
balance of relative rest with sensible exercise. It is necessary to stop or modify any exercise or
activity that increases the pain. Systematic reviews have found that both exercise and
education may help reduce the pain and disability in people with OA of the hip or knee.16
Diet. If overweight it is important to reduce weight to ideal level. Obesity increases the risk of
OA of the knee approximately fourfold and weight loss may slow progression;17 otherwise, no
specific diet has been proven to cause or improve OA.
Rest. Prolonged bed rest is contraindicated, and exercise is important. However, rest during an
active bout of inflammatory activity is reasonable as a pain reduction strategy.
Heat. Recommended is a hot-water bottle or other heat pack, warm bath or electric blanket to
soothe pain and stiffness. Advise against getting too cold. Do not advise using local cold
packs, as they have been shown not to help.
Physiotherapy. Referral should be made for specific purposes such as:
correct posture and/or leg length disparity (but beware of the increasing unscientific use of
this term)
supervision of a hydrotherapy program
heat therapy and advice on simple home heat measures
teaching and supervision of isometric strengthening
exercises (e.g. for the neck, back, quadriceps muscle)
therapeutic ultrasound, kinesio taping and electrical or laser stimulation have not been
demonstrated to work; discourage such practices.
Occupational therapy. Refer for advice on aids in the home, more efficient performance of
daily living activities, protection of joints and on the wide range of inexpensive equipment and
tools to help cope with OA.
Braces, orthotics, walking aids. A walking stick or wheelie walker may help. However,
realignment braces for medial compartment or patellofemoral OA have not been shown to be
helpful, nor have lateral wedge shoe insoles or knee taping. Advise sensible, supportive
footwear.
Paracetamol. Use paracetamol (acetaminophen) regularly, or before activity. Avoid
combinations containing codeine or dextropropoxyphene. The newer 665 mg products
marketed specifically for OA have no great advantage over the traditional 500 mg tablets; use
either.
NSAIDs and COX-2 specific inhibitors (CSIs). These are second-line drugs for more persistent
pain not relieved by paracetamol or where there is evidence of inflammation, such as pain
worse with resting and nocturnal pain. Systematic reviews found that oral NSAIDs probably
reduce the pain of OA but there is no good evidence that NSAIDs are superior to paracetamol
or that any one of the many NSAIDs is more effective than others.16 The risk versus benefit
equation always has to be weighed carefully. As a rule, use the lowest effective dose for a
short period, then discontinue use if not effective. Evidence shows CSIs (celecoxib,
etoricoxib) have a similar efficacy to other NSAIDs and a modest absolute reduction in GIT
complications.18 Significant risks of NSAIDs are:
gastric ulceration, erosion with bleeding
reviews suggest that it should no longer be recommended.14 Nor should chondroitin, vitamins
or omega-3 supplementation be recommended.
Viscosupplementation and stem cell therapy. Intra-articular hylans, e.g. hyaluronan weekly for
3–5 weeks, especially for OA of knee. Conflicting evidence for efficacy.12 Evidence originally
supporting intra-articular injection of hylans suffered the same fate as glucosamine, and no
good evidence supports stem cell therapy.
Bisphosphonates. These are used to prevent osteoporotic fractures, where appropriate, but do
not advise they will have any impact on OA symptoms.
Contraindicated drugs. For OA these include the immunosuppressive and disease-modifying
drugs such as oral corticosteroids, gold, antimalarials and cytotoxic agents. Avoid long-term
opioids, which won’t help but will harm.
Rheumatoid arthritis
RA, which is an autoimmune symmetrical polyarticular systemic disease of unknown aetiology,
is the commonest chronic inflammatory polyarthritis and affects about 1–2% of the population.
The disorder can vary from a mild to a most severe debilitating expression. About 10–20% of
patients have a relentless progression and require aggressive drug therapy.21 Urgent referral to a
specialist is recommended.

depression of kidney function (check kidney function beforehand) Genetic factors may represent a risk of 15–70% of developing RA.

hepatotoxicity The arthritis

Topical NSAIDs and capsaicin have been shown to have a small benefit in pain relief over RA generally presents with the insidious onset of pain and stiffness of the small joints of the
topical placebo preparations.12 hands and feet. The pain is persistent rather than fleeting and mainly affects the fingers where
symmetrical involvement of the PIP joints produces spindling while the metacarpophalangeal
Note: Change to a suppository form will not necessarily render the upper GIT safe from joints develop diffuse thickening, as does the wrist (see FIG. 25.8 ). In 25% of cases RA
irritation. Page 287 presents as arthritis of a single joint such as the knee,13 a situation leading to confusion with a
spondyloarthropathy. Differential diagnosis is polyarticular gout.
Intra-articular (IA) corticosteroids. Corticosteroid injections have a modest place for offering
short-term pain relief, as an adjunct to other measures. They can be particularly useful during
an inflammatory episode of distressing pain and disability (e.g. a flare-up in an osteoarthritic
knee), or where a joint replacement is either under consideration or contraindicated due to
comorbidities or age.

Surgery. Refer for surgical intervention if debilitating and intractable pain or disability, and
when considering joint replacement. However, keep up to date with evidence from blinded
‘surgery vs sham-surgery trials’ and systematic reviews that suggest that the historic
enthusiasm for knee and shoulder arthroscopies is no longer justifiable except in limited
circumstances.19,20

Glucosamine, chondroitin, vitamin D, omega-3 fatty acids. Evidence originally supporting oral
glucosamine was from small trials prone to bias, including publication bias. Systematic
 FIGURE 25.8 Chronic rheumatoid arthritis showing classic features of
deformities including subluxation of joints and rheumatoid nodules

Joints involved
Hands: MCP and PIP joints, DIP joints (30%)

Wrist and elbows

Feet: MTP joints, tarsal joints (not IP joints), ankle

Knees (common) and hip (delayed—up to 50%)

Shoulder (glenohumeral) joints

Temporomandibular joints

Cervical spine (not lumbar spine)

Refer to FIGURE 25.9 . FIGURE 25.9 Rheumatoid arthritis: typical joint distribution

Page 288
Clinical features
Insidious onset but can begin acutely (explosive RA)

Any age 10–75 years: peak 30–50 years but bimodal 25–50 (peak age) and 65–75

Female to male ratio = 3:1

Joint pain: worse on waking, nocturnal pain, disturbed sleep; relieved with activity
 Morning stiffness—can last hours

Rest stiffness (e.g. after sitting)

General: malaise, weakness, weight loss, fatigue

Disability according to involvement

Signs
Soft swelling (effusion and synovial swelling), especially of wrist, MCP and PIP joints,
nodules

Warmth

Tenderness on pressure or movement

Limitation of movement

Muscle wasting

Later stages: deformity, subluxation, instability or ankylosing

Look for swan necking, boutonnière and z deformities, ulnar deviation (see FIG. 25.10 )

FIGURE 25.10 Chronic rheumatoid arthritis: typical signs

Check for a number of everyday functions, for example:

power grip (lifting a jug of water)

precision grip (using a key or pen), undoing buttons

hook grip (carrying a bag)

The various possible extra-articular manifestations are summarised in FIGURE 25.11 . Anti-cyclic citrullinated peptide (anti-CCP) antibodies: more specific for RA (94%
specificity)12
Page 289
X-ray changes:

erosion of joint margin

loss of joint space (may be destruction)

juxta-articular osteoporosis

cysts

advanced: subluxation or ankylosing

MRI—helpful for early diagnosis

Criteria for the diagnosis of RA are presented in TABLE 25.3 .

Table 25.3 Revised criteria for features suggestive of rheumatoid arthritis12

Family history of inflammatory arthritis

Symptom duration of >6 weeks
Early-morning stiffness of >1 hour
Arthritis in three or more regions
Swelling in five or more joints
Bilateral compression tenderness of the metatarsophalangeal joints
Symmetry of the areas affected
Presence of rheumatoid nodules
FIGURE 25.11 Rheumatoid arthritis: significant non-articular clinical Rheumatoid factor positivity
manifestations Raised inflammatory markers (ESR/CRP) in absence of infection
Anticyclic citrullinated peptide antibody positivity
Investigations
Bony erosions evident on radiographs of the hands or feet, although these are
ESR/CRP usually raised according to activity of disease uncommon in early disease

Anaemia (normochromic and normocytic) may be present

Rheumatoid factor Key points

positive in about 70–80% (less frequent in early disease)
If the RA factor is positive, it is non-specific—order the anti-CCP antibody to
15–25% of RA patients will remain negative21 confirm the diagnosis.

RA has a strong cardiovascular risk factor.

 Mediterranean diet and vegetarianism.24 There is also some evidence that avoiding animal fats
(dairy products and some meats) and using fish oils is beneficial.25
Principles of management12,22
Therapies used in the management of rheumatoid arthritis are presented in TABLE 25.4 .
Give patient education support and appropriate reassurance. The diagnosis generally has
distressful implications, and so the patient and family require careful explanation and support.
Some have little or no long-term problems but even in mild cases, continuing care and medical Table 25.4 Therapies used in the management of rheumatoid arthritis22,26
supervision is important.

There has been a radical shift from palliation to early induction of disease remission, to Education (rest, literature, weight loss, joint protection advice)
prevent joint damage and reduce morbidity from malignancy (especially lymphoma) and NSAIDs
cardiovascular disease. Page 290 Simple analgesics
DMARDs:
Since many studies show disease progression in the first 2 years, relative aggressive treatment
with disease-modifying antirheumatic drugs (DMARDs) from the outset is advisable, rather Conventional synthetic DMARDs
than to start stepwise with analgesics and NSAIDs only.23 Immunosuppressants:
azathioprine
Use a team approach where appropriate, including an early specialist referral for obvious or
cyclosporin
suspected RA or positive anti-CCP for diagnosis and collaborative support.
leflunomide
Fully assess the person’s functional impairment and impact on home life, work and social methotrexate
activity. Involve the family in decision making. Biological DMARDs
Make judicious use of pharmaceutical agents. For serious cases, consultant collaboration is Cytokine inhibitors
essential. anti-TNF α agents: abatacept, adalimumab, certolizumab, etanercept,
infliximab, golimumab, rituximab
Review regularly, continually assessing progress and drug tolerance. The disease activity can anti-interleukin-1 agents; tocilizumab
be monitored with plain X-rays, ultrasound of hands (especially if hands are thick), CRP ± Gold salts
ESR.
Quinolones:
Specific advice hydroxychloroquine
chloroquine
Rest and splinting. This is necessary where practical for any acute flare-up of arthritis. Others:
Exercise. It is important to have regular exercise, especially walking and swimming. Have D-penicillamine
hydrotherapy in heated pools. sulfasalazine
Glucocorticoids:
Smoking cessation. This is strongly recommended. oral prednisolone
Referral. Referring to physiotherapists and occupational therapists for expertise in exercise intra-articular
supervision, physical therapy and advice regarding coping in the home and work is important. intravenous (steroid ‘pulses’)
Fish body oil
Joint movement. Each affected joint should be put daily through a full range of motion to keep
Physical therapy (hydrotherapy, isometric exercises)
it mobile and reduce stiffness.
Occupational therapy (splints, aids and appliances)
Diet. Although there is no special diet that seems to cause or cure RA, a nourishing, well- Orthopaedic surgery (synovectomy, joint replacement, arthrodesis, plastic hand
balanced diet is common sense and obesity must be avoided. Some evidence supports both a surgery)
 Chiropody, footwear, insoles These agents target synovial inflammation and prevent joint damage. The choice depends on
several factors, but is best left to the specialist coordinating care. In most patients with recently
diagnosed RA, methotrexate is the cornerstone of management and should be commenced as
Source: Reilly and Littlejohn22,26
early as possible.

Management (pharmacological)
Best under consultant direction.
NSAIDs are effective and still have a place, but the adverse effects are a problem.
The use of DMARDs and biological DMARDs improves long-term outcomes.
Methotrexate is the ‘backbone’ of treatment, and should be continued when starting other
DMARDs.
Supplementation with folic acid can improve gastrointestinal symptoms and reduce the risk of
liver dysfunction.
Beware of the increased risk of infection in patients on combination DMARD regimes.
Initial dose: methotrexate 5–10 mg (o) once weekly on a specified day, increasing to maximum
of 25 mg weekly or SC depending on clinical response and toxicity. Add folic acid 5–10 mg
twice weekly (not on the day methotrexate is given).12
Biological DMARDs (bDMARDs) are the newer agents, which should be considered if
remission is not achieved with appropriate methotrexate monotherapy, ‘triple therapy’ or other
combinations. All bDMARDs are more effective when combined with methotrexate. As a rule,
don’t use two biologicals together.
Warning: All practitioners should be aware of the increased risk of infectious
diseases such as the atypical pneumonias, tuberculosis and listeriosis while taking
bDMARDs. All patients should report unusual or unexpected fever or symptoms.
Injection site reactions are common.

When indicated, vaccination for pneumococcus, influenza, hepatitis A and B and HPV is
recommended for all DMARDs. Standard initial drug therapy

Any pain should be managed with paracetamol or NSAIDs. Avoid opioid analgesics if Monotherapy with methotrexate (or occasionally another DMARD) is standard. Less than 20%
possible. will reach disease remission; if not achieved, increase the dose or consider combination therapy.
Many people are managed on conventional DMARDs.
Glucocorticoids are appropriate for flares of RA.
Combination therapy
Page 291
Fish oil Consider standard triple therapy: methotrexate + sulfasalazine + hydroxychloroquine.

Fish oil in doses to deliver 4 g of omega-3 long-chain polyunsaturated fatty acids daily (typically Triple therapy can be used if methotrexate monotherapy has failed or initially on diagnosis,
0.2 g/kg) over several months has been shown to reduce symptoms and the need for NSAIDs depending on the severity of the disease. Monitoring for FBE, LFTs and annual eye checks is
through its anti-inflammatory activity.12,25 necessary.

Glucocorticoids Several other double combinations may be used (e.g. methotrexate with cyclosporin, leflunomide
or a bDMARD).
Oral use should be considered in those with severe disease as a temporary adjunct to DMARD
therapy and where other treatments have failed or are contraindicated. Connective tissue diseases
The dose is prednisolone 10 mg (o) daily. Avoid doses higher than 15 mg daily if possible.
The connective tissue disorders have the common feature of arthritis or arthralgia. Refer to
Intra-articular injections of depot preparations are effective in larger joints. CHAPTER 21 .

Disease-modifying antirheumatic drugs (DMARDs) Arthritis is the commonest clinical feature of SLE (over 90%).13 It is a symmetrical polyarthritis
involving mainly small and medium joints, especially the proximal interphalangeal and carpal
joints of the hand. It is usually non-erosive and non-deforming, although deformities of fingers arthropathy
and thumbs can occur due to laxity of ligaments, tendons and capsules, causing joint instability. Acute arthritis
The initial presentation is similar to RA.

Scleroderma can present as a polyarthritis affecting the fingers of the hand in 25% of patients, Gout (monosodium urate crystal disorder)
especially in the early stages. Soft tissue swelling produces a ‘sausage finger’ pattern.
Gout is an abnormality of uric acid metabolism resulting in hyperuricaemia and urate crystal
Arthralgia and arthritis occur in about 50% of those with polymyositis/dermatomyositis and may
deposition. Urate crystals deposit in:
be the presenting feature before the major feature of muscle weakness and wasting of the
proximal muscles of the shoulder and pelvic girdles appear. The small joints of the hand are joints—acute gouty arthritis
usually affected and it may resemble RA.
soft tissue—tophi and tenosynovitis
Crystal arthritis urinary tract—urate stones

Arthritis, which can be acute, chronic or asymptomatic, is caused by a variety of crystal deposits Four typical stages of gout are recognised:
in joints. The three main types of crystal arthritis are monosodium urate (gout), calcium
pyrophosphate dihydrate (CPPD) and calcium phosphate (usually hydroxyapatite).27 Refer to Stage 1—asymptomatic hyperuricaemia
TABLE 25.5 .
Stage 2—acute gouty arthritis
Page 292
Stage 3—intercritical gout (intervals between attacks)
Table 25.5 Crystal-induced disorders Stage 4—chronic tophaceous gout and chronic gouty arthritis

Associated Asymptomatic hyperuricaemia:

Crystals Typical joints or region affected
disease/syndrome
10 times more common than gout13
Monosodium urate Acute gout Metatarsophalangeal joint of big toe
Tophaceous Also: other foot joints, ankle, knee Elevated serum uric acid (>0.42 mmol/L in men, > 0.36 mmol/L in women)
gout and patellar bursa, wrist, fingers
Asymptomatic Absence of clinical manifestations
Chronic gouty
Usually does not warrant treatment
arthritis
Calcium Acute Knee, wrist Clinical features
pyrophosphate pseudogout In older people >60 years (average
dihydrate (CPPD) Destructive age 72) Typical clinical features of gout include:12
arthropathy (like F > M (2.7:1) mainly a disorder of men (5–8% prevalence)
RA)
Asymptomatic onset earlier in men (40–50) than women (60+)
(most common)
acute attack: excruciating pain in great toe (see FIG. 25.12 ), early hours of morning
Basic calcium Acute calcific Shoulder (supraspinatus) skin over joint—red, shiny, swollen and hot
phosphate periarthritis
Destructive exquisitely tender to touch
 relief with colchicine, NSAIDs, corticosteroids Low-dose aspirin

can subside spontaneously (3–10 days) without treatment Others

The arthritis

Monoarthritis in 90% of attacks:

MTP joint great toe—75%

other joints—usually lower limbs: other toes, mid foot, ankles, knees

Polyarticular onset is more common in old men and may occur in DIP and PIP joints of fingers.
No synovial joint is immune. Page 293

Refer to FIGURE 25.13 .

FIGURE 25.12 Gout showing typical red, shiny, swollen arthritis of the first
MTP joint with desquamation of the skin

Causes/precipitating factors
Foods: seafood, meat, liver, kidney

Alcohol excess (e.g. binge drinking)

Surgical operation

Starvation, dehydration, acute illness

Drugs (FACT: frusemide, aspirin, alcohol, cytotoxic drugs, thiazide diuretics)

Chronic kidney disease

Myeloproliferative disorders

Lymphoproliferative disorders (e.g. leukaemia)

Sugary soft drinks,28 fruit juices containing fructose

Cytotoxic agents (tumour lysis)

Hypothyroidism
 Tophi in ears, elbows (olecranon bursa), big toes, fingers, Achilles tendon (can take many
years)

Can cause patellar bursitis

Can get cellulitis (does not respond to antibiotics)

Nodular gout

More common in postmenopausal women with kidney impairment taking diuretic therapy.
Causes pain and tophaceous deposits around osteoarthritic interphalangeal (especially DIP) joints
of fingers.

Diagnosis
Synovial fluid aspirate of affected joint, bursa or tophus → typical uric acid crystals using
compensated polarised microscopy; this should be tried first (if possible) as it is the only real
diagnostic feature

Elevated serum uric acid (up to 30% can be within normal limits with a true acute attack)27

X-ray: punched out erosions at joint margins

Management
Management of gout includes these principles:

good advice and patient education information

provision of rapid pain relief

preventing further attacks

prevention of destructive arthritis and tophi

dealing with precipitating factors and comorbid conditions (e.g. alcohol dependence, obesity,
CKD, polycythaemia vera, diabetes, hypertension)

The acute attack12,28,29

NSAIDs (except aspirin), in full dosage, are first-line and effective.

FIGURE 25.13 Gout: possible joint distribution Give orally until symptoms abate (up to 4–5 days) then continue for one week

or
Other features
Corticosteroids:
Prone to recurrence
 prednisolone 15–30 mg (o) daily until symptoms abate,30,31 then decrease gradually reduced intake of sugary soft drinks (fructose)32
Page 294

or good fluid intake (e.g. water—2 litres a day)

local corticosteroid injection (but very painful) up to a maximum of two affected sites31 avoidance of drugs such as diuretics (thiazides, frusemide) and salicylates/low-dose aspirin

or wearing comfortable shoes

intramuscular (in difficult cases) e.g. tetracosactrin 1 mg avoidance of prolonged fasting

or Prevention (drug prophylaxis)

Colchicine: Allopurinol (a xanthine oxidase inhibitor) is the first-line drug of choice: dose 100–300 mg daily.
colchicine 1 mg (o) statim, then 0.5 mg 1 hour later as a single dose 1-day course (total Indications:
dose is 1.5 mg)12,28
frequent acute attacks (or even >1 attack in 12 months)
Note:
tophi or chronic gouty arthritis
Must be given early
kidney stones or uric acid nephropathy
Avoid if kidney impairment
hyperuricaemia
Avoid use with macrolide antibiotics, e.g. clarithromycin, especially in CKD
Adverse effects:
Avoid long-term use
rash (2%)
Note:
severe allergic reaction (rare)
Avoid changes to urate-lowering therapy during an acute attack of gout
Precautions:
Avoid aspirin and urate pool lowering drugs (probenecid, allopurinol, sulfinpyrazone)30
beware of kidney insufficiency and elderly patients—use lower doses
Monitor kidney function and electrolytes
beware of drug interactions:
Long-term therapy
azathioprine and 6 mercaptopurine—potentially lethal
When acute attack subsides, preventive measures with the aim of treating through diet include:
amoxicillin—prone to rashes
weight reduction
avoid initiating or changing allopurinol during an acute attack
a healthy, well-balanced diet
Method: treatment of intercritical and chronic gout
avoidance of purine-rich food, such as organ meats (liver, brain, kidneys, sweetbread), tinned
fish (sardines, anchovies, herrings), shellfish and game Commence allopurinol 6–8 weeks after last acute attack.

reducing red and processed meats, fried chips and sweet treats Start with 50 mg daily for 4 weeks and then increase by 50 mg every 2 to 4 weeks to
maximum 900 mg daily.
reduced intake of alcohol
 Check uric acid level after 4 weeks: aim for level <0.38 mmol/L. The crystals in synovial fluid are readily identified by phase-contrast microscopy. X-rays are
helpful in showing calcification of the articular cartilage.
Temporarily add colchicine 0.5 mg bd or indomethacin 25 mg bd or other NSAIDs
(to avoid precipitation of gout). Management is based on aspiration and installation of a depot glucocorticosteroid by injection
into the joint (if joint infection excluded) plus analgesia. Be cautious of using NSAIDs in the
Second-line agents elderly—paracetamol is preferred. Colchicine can be used.

Febuxostat (an alternative xanthine oxidase inhibitor): dose is 40 mg (o) daily initially for Treatment includes:12
2–4 weeks, increasing the daily dose by 40 mg every 2–4 weeks, to maximum dose 120 mg.
indomethacin 50 mg (o) tds (if tolerated) until symptoms abate
Probenecid (uricosuric agent)—a second-line agent. Good for hyperexcretion of uric acid by
blocking renal tubular reabsorption. Dose: 500 mg/day (up to 2 g). and/or

Note: Aspirin antagonises effect. colchicine 0.5 mg (o) tds until attack subsides

Prophylaxis of a flare of gout12 and

colchicine 0.5 mg (o) daily or bd paracetamol 500–1000 mg (o) four times daily, if necessary

or The spondyloarthritides
prednisolone 5mg (o) daily
The spondyloarthritides are a group of related inflammatory arthropathies with common
or characteristics affecting the spondyles (vertebrae) of the spine. It is appropriate to regard them as
synonymous with the seronegative spondyloarthropathies in contradistinction to RA, which is
an NSAID, e.g. diclofenac 25–50 mg (o) up to 200 mg/day seropositive and affects the cervical spine only. Apart from back pain, this group tends to present
with oligoarthropathy in younger people. The arthritis is characteristically peripheral,
Calcium pyrophosphate crystal disorder (pseudogout)12 asymmetrical, affects the lower limbs and can exhibit dactylitis (e.g. ‘sausage’ digits). Page 295

The finding of calcification of articular cartilage on X-ray examination is usually termed Features33
chondrocalcinosis. This is mainly a disorder of the elderly superimposed on an osteoarthritic
joint. The acute attack is similar to an acute attack of gout but it affects the following joints (in Sacroiliitis with or without spondylitis
order):
Enthesopathy (enthesitis), especially plantar fasciitis, Achilles tendonitis, costochondritis
knee
Peripheral arthritis, especially larger lower limb joints
2nd and 3rd MCP joints
Extra-articular features (e.g. iritis/anterior uveitis, mucocutaneous lesions, psoriasiform skin
wrist and nail lesions, chronic GIT and GU inflammation)

shoulder Absent rheumatoid factor

ankle Association with HLA-B27 antigen

elbow Familial predisposition

It can affect tendons, especially the Achilles tendon, and cause a fever resembling septic arthritis.
The group of disorders
1. Axial spondyloarthritis, including ankylosing spondylitis The arthritis (Reiter syndrome), which commences 1–3 weeks post infection, tends to affect the
larger peripheral joints, especially the ankle (talocrural) and knees, but the fingers and toes can
2. Reactive arthritis be affected in a patchy polyarthritic fashion. Mucocutaneous lesions, including keratoderma
blennorrhagica and circinate balanitis, may occur, although the majority develop peripheral
3. Inflammatory bowel disease (enteropathic arthritis) arthritis only (see FIG. 25.14 ).
4. Psoriatic arthritis

5. Juvenile onset ankylosing spondylitis

6. Unclassified spondyloarthritis—partial features only

Ankylosing spondylitis
This usually presents with an insidious onset of inflammatory back and buttock pain (sacroiliac
joints and spine) and stiffness in young adults (age <40 years), and 20% present with peripheral
joint involvement before the onset of back pain. It usually affects the girdle joints (hips and
shoulders), knees or ankles. At some stage, over 35% have joints other than the spine affected.
The symptoms are responsive to NSAIDs (see CHAPTER 28 ).

Key clinical criteria12

Low back pain persisting for >3 months

Associated morning stiffness >30 minutes

Awoken with pain during second half of night

Improvement with exercise and not relieved by rest

Limitation of lumbar spine motion in sagittal and frontal planes

Chest expansion ↓ relative to normal values

Unilateral sacroiliitis (grade 3 to 4)

Bilateral sacroiliitis (grade 2 to 4)

Reactive arthritis
Reactive arthritis is a form of arthropathy in which non-septic arthritis and often sacroiliitis
develop after an acute urogenital infection (usually Chlamydia trachomatis) or an enteric
infection (e.g. Salmonella, Shigella).

DxT urethritis + conjunctivitis ± iritis + arthritis → reactive arthritis

 FIGURE 25.14 Possible clinical features of reactive arthritis
Page 296
Enteropathic spondyloarthritidy
Inflammatory bowel disease (ulcerative colitis, Crohn disease and Whipple disease) may rarely
be associated with peripheral arthritis and sacroiliitis.
Psoriatic arthritis
Like reactive arthritis, this can develop a condition indistinguishable from ankylosing
spondylitis. It is therefore important to look beyond the skin condition of psoriasis, for about 5%
will develop psoriatic arthropathy. It can have several manifestations:
1. mainly DIP joints
2. identical RA pattern but RA factor negative
3. identical ankylosing spondylosis pattern with sacroiliitis and spondylitis
4. monoarthritis, especially knees
5. severe deformity or ‘mutilans’ arthritis
Unclassified spondyloarthritides
This category seems to be frequently encountered in family practice. The person clearly has a
spondyloarthropathy but fails to meet the criteria for any one of the individual entities within the
group. A typical patient is a young male in his third decade with a painful knee or other joint,
unilateral (or bilateral) back pain with one of the entheseal problems (e.g. plantar fasciitis).
Investigations for spondyloarthritides
X-rays:
radiological sacroiliitis is central to the diagnosis
changes include narrowing of SIJs, margin irregularity, sclerosis of peri-articular bone and
eventually bony fusion. Spondylitis usually follows
ESR and CRP: most patients have an elevated ESR and CRP at some stage of their disease
HLA-B27: this test has low specificity and has limited value except that it predicts risk to
offspring if positive
Microbiology: in patients with a history of reactive arthritis, cultures should be obtained from
the urethra, faeces, urine and blood32
Principles of management
Identify the most active elements of the disease and treat accordingly.
Provide patient and family education with appropriate reassurance: this is vital. Stress that,
although the disease is non-curable, treatment is effective and long-term prognosis generally
good.
Provide regular assessment and support.
Give genetic counselling—in cases of ankylosing spondylitis with positive HLA-B27, the risk
to offspring is significant.
Give advice regarding work, especially with posture.
Acute anterior uveitis requires prompt treatment and monitoring by an ophthalmologist.
Refer for physiotherapy for exercises, stretching program, postural exercises and
hydrotherapy. Appropriate physiotherapy slows deterioration in spinal function.33
Consider referral for occupational therapy.
Pharmacological agents:12
NSAIDs (e.g. indomethacin 75–200 mg (o) daily or 100 mg rectally nocte daily or
ketoprofen 100 mg rectally nocte to control pain, stiffness and synovitis)
sulfasalazine (if NSAIDs ineffective)
intra-articular corticosteroids for severe monoarthritis and intralesional corticosteroids for
enthesopathy
Refer for advice on above and especially for DMARD and bDMARD therapy.
Cautions
Careful monitoring is required with NSAIDs and sulfasalazine.
Systemic corticosteroids are not indicated.
Immunosuppressants (low-dose weekly methotrexate) and bDMARDs may be needed for
severe intractable problems with psoriasis and reactive arthritis.
These conditions should be managed in collaboration with a specialist.
When to refer Practice tips
Consider referring most severe true inflammatory disorders for diagnosis and initiation of Morning stiffness and pain, improving with exercise = RA.
treatment (e.g. RA, spondyloarthropathy, connective tissue disorders and suspicion of a
vasculitide) Flitting polyarthritis and fever = rheumatic fever; ?endocarditis; ?SLE.
Osteoarthritis: Polyarthritis (usually PIPs) and rash = viral arthritis or drug reaction.
generalised joint pain If rheumatoid arthritis involves the neck, beware of atlantoaxial subluxation and
spinal cord compression.
associated systemic symptoms
If the patient is young—think of SLE.
deteriorating joint function
If a patient returns from overseas with arthralgia, think of drug reactions, hepatitis,
intractable pain (especially at rest) Lyme disease, but if the pain is intense consider dengue fever.
if surgical procedure is contemplated12 Consider the possibility of Lyme disease in people with a fever, rash and arthritis
who have been exposed to tick bites overseas.
Rheumatoid arthritis: Page 297
If a patient presents with Raynaud phenomenon and arthritis, especially of the
all patients initially hands, consider foremost RA, SLE and systemic sclerosis.
persistent inflammation of a joint or joints Avoid the temptation to apply on doubtful grounds a broad label such as arthritis
patient ill and corticosteroids contemplated or rheumatoid, or a precise diagnosis such as RA, and introduce drugs.34

if a surgical procedure is contemplated

Spondyloarthropathies: Patient education resources

initial referral for confirmation of diagnosis and initiation of treatment Hand-out sheets from Murtagh’s Patient Education 8th edition:
disease unresponsive to conventional treatment Gout
sudden deterioration in symptoms, especially pain Osteoarthritis
onset of uveitis or other ocular complications Rheumatoid arthritis
adverse drug reactions Page 298

Undiagnosed arthritis in presence of constitutional symptoms References

Suspicion of a suppurative or serious infective condition (e.g. septic arthritis, endocarditis,
1 Hart FD. Practical Problems in Rheumatology. London: Dunitz, 1985: 77.
brucellosis)
2 Cormack J, Marinker M, Morrel D. Practice: A Handbook of Primary Health Care.
Children with evidence of juvenile idiopathic arthritis (e.g. Still syndrome)
London: Kluwer-Harrop Handbooks, 1980; 3(61): 1–12.

3 Australian Institute of Health and Welfare. Rheumatoid arthritis [Internet]. Canberra:

 Australian Institute of Health and Welfare, 2020. Available from:
https://www.aihw.gov.au/reports/chronic-musculoskeletal-conditions/rheumatoid-arthritis,
accessed March 2021.
4 Singh JA. Racial and gender disparities among patients with gout. Curr Rheumatol Rep,
2013; 15(2): 307.
5 Parisi S et al. Viral arthritis and COVID-19. The Lancet: Rheumatology, Nov 2020; 2(11):
E655–E657.
6 Lassere M, McGuigan L. Systemic disease presenting as arthritis: a diagnostic approach.
Aust Fam Physician, 1991; 20: 1683–714.
7 Carroll GJ, Taylor AL. Drug-induced musculoskeletal syndromes. Current Therapeutics,
2000; Feb: 47–50.
8 Rudge S. Joint pain in children: assessing the serious causes. Modern Medicine Australia,
1990; May: 113–21.
9 Rantapää Dahlqvist S, Andrade F. Individuals at risk of seropositive rheumatoid arthritis:
the evolving story. J Intern Med, 2019 Dec; 286(6): 627–643.
10 Collignon PJ, Lum GD, Robson JMB. Does Lyme disease exist in Australia? Med J Aust,
2016; 205(9): 413–417.
11 Barraclough D. Rheumatology symptoms: will investigation make a difference? Aust Fam
Physician, 2001; 30(4): 322–6.
12 Rheumatology [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed September 2020.
13 Kumar PJ, Clarke ML. Clinical Medicine (7th edn). London: Saunders, 2009: 523–9.
14 RACGP. Guideline for the management of knee and hip osteoarthritis (2nd edn). East
Melbourne: RACGP, July 2018. Available from: https://www.racgp.org.au/clinical-
resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/knee-and-
hip-osteoarthritis/about-this-guideline, accessed March 2021.
15 Australian Knee Society. Position statement from the Australian Knee Society on
arthroscopic surgery of the knee, including reference to the presence of osteoarthritis or
degenerative joint disease. April 2019. Available from:
https://www.kneesociety.org.au/documents.html, accessed March 2021.
16 Barton S, ed. Clinical Evidence. London: BMJ Publishing Group, 2001: 808–18.
17 Felson DT. Weight and osteoarthritis. J Rheumatol Suppl, 1995; 43: 7–9.
18 Day R. COX-2 specific inhibitors: should I prescribe them? Current Therapeutics, 2000;
Feb: 9–11.
19 Paavola M et al. Subacromial decompression versus diagnostic arthroscopy for shoulder
impingement: randomised, placebo surgery controlled clinical trial. BMJ, 2018; 362:
k2860.
20 Thorlund JB et al. Arthroscopic surgery for degenerative knee: systematic review and
meta-analysis of benefits and harms. British J Sports Med, 2015; 49: 1229–35.
21 Shmerling RH, Delbanco TL. How useful is the rheumatoid factor? An analysis of
sensitivity, specificity and predictive value. Arch Intern Med, 1992; 152: 2417–20.
22 Wilson TD, Hill CL. Managing the drug treatment of rheumatoid arthritis. Aust Pres,
2017; 40: 51–8
23 Ostor A, McColl G. What’s new in rheumatoid arthritis? An evidence based review. Aust
Fam Physician, 2001; 30(4): 314–20.
24 Hagen KB et al. Dietary interventions for rheumatoid arthritis. Cochrane Database Syst
Rev, 2009; (1).
25 Cleland LG, James MJ, Proudman SM. Fish oil: what the prescriber needs to know.
Arthritis Research and Therapy, 2006; 8(1): 202–11.
26 Reilly P, Littlejohn G. Current treatment concepts in arthritis. Aust Fam Physician, 1989;
18: 1499–1509.
27 Hall S. Crystal arthritis: a clinician’s view. Aust Fam Physician, 1991; 20: 1717–24.
28 Graf SW et al. Australian and New Zealand recommendations for the diagnosis and
management of gout: integrating systematic literature review and expert opinion in the 3e
Initiative. Int J Rheum Dis, 2015; 18(3): 341–51.
29 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2018: 704–6.
30 Wechalekar MD et al. The efficacy and safety of treatments for acute gout: results from a
series of systematic literature reviews including Cochrane reviews on intraarticular
glucocorticoids, colchicine, nonsteroidal antiinflammatory drugs, and interleukin-1
inhibitors. J Rheumatol Suppl, Sept 2014; 92: 15–25.
31 Janssens H et al. Use of oral prednisolone or naproxen for treatment of gout arthritis: a
double blind randomised equivalence trial. Lancet, 2008; 371(9627): 1854–60.
32 Choi HK, Curham G. Soft drinks, fructose consumption and the risk of gout in men:
prospective cohort study. BMJ online, 31 January 2008: 39449.819271 BE.
33 Edmonds JP. Spondyloarthropathies. Med J Aust, 1997; 166: 214–18.
34 Hart FD. Early clinical diagnosis of 12 forms of arthritis. Modern Medicine Australia, Page 299
1989; March: 34–40.

26 Anorectal disorders

Duncan ill with very bad piles—operated on last night, or, since that sounds alarming, lanced.
Can’t really sympathise with that particular disease, though the pain is terrible. Must laugh.

VIRGINIA WOOLF 1934, DIARY ENTRY

Anorectal problems are common in family practice and tend to cause anxiety that is often related
to the fear of cancer. Although the majority of rectal bleeding and lumps have non-cancerous
causes, the fear of cancer may be well founded, so it is important to consider it in any
presentation of rectal bleeding.

Anorectal problems include:

pain

lumps

discharge

bleeding

pruritus

Common anorectal conditions are illustrated in FIGURE 26.1 .

 tenesmus

Painful swelling:

perianal haematoma

strangulated internal haemorrhoids

abscess: perianal, ischiorectal

pilonidal sinus

fistula-in-ano (intermittent)

anal carcinoma

Anal fissure
Anal fissures cause pain on defecation and usually develop after a period of constipation (may be
a brief period) and tenesmus. Other associations are childbirth and opioid analgesics.1
Sometimes the pain can be excruciating, persisting for hours and radiating down the back of both
legs. Anal fissures, especially if chronic, can cause minor anorectal bleeding (bright blood) noted
as spotting on the toilet paper.

Examination
FIGURE 26.1 Common anorectal conditions
On inspection the anal fissure is usually seen in the anal margin—90% are situated in the midline
posteriorly (6 o’clock). The fissure appears as an elliptical ulcer involving the lower third of the
anus from the dentate line to the anal verge (see FIG. 26.2 ).1

Anorectal pain (Proctalgia)

The complaint may be that defecation is painful or almost impossible because of anorectal pain.

Causes
Pain without swelling:

anal fissure

anal herpes

ulcerative proctitis

proctalgia fugax Page 300

solitary rectal ulcer

 Fever >38°C

Recurrent (consider Crohn disease)

Exquisitely painful PR (consider abscess)

Treatment
The aim is to disrupt the cycle of anal sphincter spasm, allowing improved blood flow to assist
healing. Management is conservative: patients should avoid hard stools, and use warm salt (sitz)
baths after bowel movements to relax the internal anal sphincter. A high-residue diet and
avoidance of constipation (aim for soft bulky stools) may lead to resolution and long-term
prevention. A combined local anaesthetic and corticosteroid ointment applied to the fissure,
particularly before passing a stool, can provide relief but may not promote healing. A
conservative treatment is the application of diluted glyceryl trinitrate ointment (e.g. Rectogesic
2% three times daily for 6 weeks to the lower anal canal) with a gloved finger gently inserted
into the anal canal. It achieves healing rates of 50–70%, significantly more than placebo
ointment.2,3 Transient headache is the main adverse effect. An alternative is 2% diltiazem cream
applied twice daily for 6–8 weeks. An acute anal fissure will usually heal spontaneously or
within a few weeks of treatment involving a high-fibre diet, sitz baths or laxatives.4

Lateral internal sphincterotomy is indicated in patients with a recurrent fissure and a chronic
fissure with a degree of fibrosis and anal stenosis.5 This surgical procedure is the gold-standard
surgical procedure. An alternative ‘chemical’ sphincterotomy, which is as effective as surgical
treatment, is injection of botulinum toxin into the sphincter.

Proctalgia fugax (levator ani spasm)

FIGURE 26.2 Anal fissure with prominent skin tag situated in the mid Clinical features
posterior position of the anal verge: the 6 o’clock position Episodic fleeting rectal pain
Digital examination and sigmoidoscopy are difficult because of painful anal sphincter spasm. If Varies from mild discomfort to severe spasm
there are multiple fissures, Crohn disease should be suspected. Crohn fissures look different,
being indurated, oedematous and bluish in colour. Last 3–30 minutes
In chronic anal fissures a sentinel pile is common and in longstanding cases, a subcutaneous Often wakes the person from sound sleep
fistula is seen at the anal margin, with fibrosis and anal stenosis.1
Can occur any time of day

Red flag pointers for anorectal pain A functional bowel disorder of unknown aetiology

Affects adults, being more common in women Page 301

Weight loss
Management6
Change in bowel habits
 Explanation and reassurance re self-healing irritation.

An immediate drink (preferably hot) and local warmth with firm flannel pressure to the 3. Day 4 onwards. The haematoma is best left alone unless it is very painful or (rarely) infected.
perineum Resolution is evidenced by the appearance of wrinkles in the previously stretched skin.

Salbutamol inhaler (2 puffs statim) worth a trial but anecdotal evidence only
Alternatives include glyceryl trinitrate spray for the symptoms or possibly antispasmodics,
calcium-channel blockers and clonidine.
Solitary rectal ulcer syndrome
These ulcers occur in young adults; they can present with pain but usually present as the
sensation of a rectal lump causing obstructed defecation and bleeding with mucus. The ulcer,
which is usually seen on sigmoidoscopy about 10 cm from the anal margin on the anterior rectal
wall, can resemble cancer. Management is difficult and a chronic course is common. Treatment
includes a high-residue diet and the avoidance of constipation.
Follow-up
Review in 4 weeks for rectal examination to examine for any underlying internal haemorrhoid
that may predispose to further recurrence. Prevention includes an increased intake of dietary
fibre and avoidance of straining at stool.
Strangulated haemorrhoids
A marked oedematous circumferential swelling will appear if all the haemorrhoids are involved.
If only one haemorrhoid is strangulated, proctoscopy will help to distinguish it from a perianal
haematoma. Initial treatment is with rest and ice packs and then haemorrhoidectomy at the
earliest possible time. It is best to refer for urgent surgery.

Tenesmus
Perianal cellulitis6
Tenesmus is an unpleasant sensation of incomplete evacuation of the rectum. It causes attempts
to defecate at frequent intervals. The most common cause is irritable bowel syndrome. Another This occurs mainly in preschool and school-aged children. It is usually caused by Streptococcus
common cause is an abnormal mass in the rectum or anal canal, such as cancer (e.g. prostate, pyogenes. Symptoms are perianal redness and pain on defecation. Check for a fissure. After
anorectal), haemorrhoids or a hard faecal mass. In some cases, despite intensive investigation, no swabbing, treat with oral cephalexin for 10 days.
cause is found and it appears to be a functional problem.
Perianal anorectal abscess
Perianal haematoma This is caused by infection by polymicrobial organisms in one of the anal glands that drain the
A perianal haematoma (thrombosed external haemorrhoid) is a purple tender swelling at the anal anal canal.
margin caused by rupture of an external haemorrhoidal vein following straining at toilet or some
other effort involving a Valsalva manoeuvre. The degree of pain varies from a minor discomfort Clinical features
to severe pain. It has been described as the ‘five-day, painful, self-curing pile’, which may lead
to a skin tag. Spontaneous rupture with relief of symptoms can occur. Severe, constant, throbbing pain

Fever and toxicity

Management
Hot, red, tender swelling adjacent to anal margin
Surgical intervention is recommended, especially early in the presence of severe discomfort. The
treatment depends on the time of presentation after the appearance of the haematoma. Non-fluctuant swelling Page 302

1. Within 24 hours of onset. Perform simple aspiration without local anaesthetic using a 19 gauge
needle while the haematoma is still fluid.
2. From 1 to 3 days of onset. The blood has clotted and a simple incision under local anaesthetic
over the haematoma with deroofing with scissors (like taking the top off a boiled egg) to
remove the thrombosis by squeezing is recommended. Removal of the haematoma reduces the
chances of recurrence and the development of a skin tag, which can be a source of anal
Careful examination is essential to make the diagnosis. Look for evidence of a fistula, Crohn
disease and anorectal cancer.
Treatment
Drain via a cruciate incision, which may need to be deep (with trimming of the corners) over the
point of maximal induration. A drain tube can be inserted for 7–10 days. Packing is not
necessary. An anal fistula is a tract that communicates between the perianal skin (visible opening) and the
anal canal, usually at the level of the dentate line. It usually arises from chronic perianal
Antibiotics infection, especially following discharge of an abscess. It is common in Crohn disease.
Symptoms include: recurrent abscesses; discharge of blood, pus or serous fluid; swelling and
If a perianal or perirectal abscess is recalcitrant or spreading with cellulitis, use: anal pain. A surgical opinion is necessary to determine the appropriate surgical procedures,
which may be complex if it traverses sphincter musculature. One method is the Seton
metronidazole 400 mg (o) 12 hourly for 5–7 days plus management, whereby thin silicone, silk or latex slings are inserted under general anaesthetic.
This allows drainage and then guides surgical removal of the tracts.8
cephalexin 500 mg (o) 6 hourly for 5–7 days7
Anorectal lumps
Ischiorectal abscess
Anorectal lumps are relatively common and patients are often concerned because of the fear of
An ischiorectal abscess presents as a larger, more diffuse, tender, dusky red swelling in the cancer. A lump arising from the anal canal or rectum, such as an internal haemorrhoid, tends to
buttock. The presence of an abscess is usually very obvious but the precise focus is not always appear intermittently upon defecation, and reduce afterwards.1 Common prolapsing lesions
obvious on inspection. Antibiotics are of little help and surgical incision and drainage under deep include second- and third-degree haemorrhoids, hypertrophied anal papilla, polyps and rectal
anaesthesia is necessary as soon as possible. prolapse. Common presenting lumps include skin tags, fourth-degree piles and perianal warts
(see TABLE 26.1 ).
Pilonidal sinus and abscess
Table 26.1 Common anal lumps
Recurrent abscesses and discharge in the sacral region (at the upper end of the natal cleft about
6 cm from the anus) can be caused by a midline pilonidal sinus, which often presents as a painful
abscess. Once the infection has settled it is important to excise the pits, allow free drainage of the Prolapsing lumps
midline cavity and lateral tracks and remove all ingrown hair. Antibiotics, which should be
guided by culture (e.g. cephalexin and metronidazole), are given to complement surgical Second- and third-degree haemorrhoids
drainage only if there is severe surrounding cellulitis.6 Pilonidal means ‘a nest of hairs’ and the Rectal prolapse
problem is particularly common in hirsute young men (see FIG. 26.3 ). Refer for excision of the Rectal polyp
sinus network if necessary, possibly marsupialisation. Hypertrophied anal papilla
Persistent lumps
Skin tag
Perianal warts (condylomata accuminata)
Anal cancer
Fourth-degree haemorrhoids
Perianal haematoma
Perianal abscess

Page 303

FIGURE 26.3 Shaving reveals a pilonidal sinus and a lateral sinus opening. It
shows the characteristic tuft of hairs protruding from the midline sinus.
Fistula-in-ano5
Skin tags
The skin tag is usually the legacy of an untreated perianal haematoma. It may require excision
for aesthetic reasons, for hygiene or because it is a source of pruritus ani or irritation. A tag may
be associated with a chronic fissure.
Treatment (method of excision)
A simple elliptical excision at the base of the skin tag is made under local anaesthetic. Suturing
of the defect is usually not necessary. Perianal incisions/excisions rarely become infected.

Perianal warts
It is important to distinguish the common viral warts from the condylomata lata of secondary
syphilis. Local therapy includes the application of podophyllin every 2 or 3 days by the
practitioner or imiquimod. Cryotherapy or diathermy are alternatives.

Rectal prolapse
This is protrusion from the anus to a variable degree of the rectal mucosa (partial) or the full
thickness of the rectal wall. It appears to be associated with constipation and chronic straining,
leading to a lax sphincter. Features can include mucus discharge, bleeding, tenesmus, a solitary
rectal ulcer and faecal incontinence (75%).

Visualisation of the prolapse is an important part of the diagnosis. Surgery such as rectopexy
(fixing the rectum to the sacrum) is the only effective treatment for a complete prolapse.5 FIGURE 26.4 Classification of haemorrhoids

Temporary shrinking of a visible prolapse in an emergency situation can be achieved by a liberal Anatomically there are three classical sites, namely 3, 7 and 11 o’clock (see FIG. 26.5 ).
sprinkling of fine crystalline sugar.

Internal haemorrhoids
Haemorrhoids or piles are common and tend to develop between the ages of 20 and 50 years. In
developed nations, roughly one in two adults has had a haemorrhoid by the age of 50.2 Internal
haemorrhoids are a complex of dilated arteries, branches of the superior haemorrhoidal artery
and veins of the internal haemorrhoidal venous plexus (see FIG. 26.4 ). The commonest cause is
chronic constipation related to a lack of dietary fibre and inappropriate bowel habit.

FIGURE 26.5 Three sites of primary haemorrhoids, looking into the anus from
 below

Clinical stages and pathology2

Stage 1: First-degree internal haemorrhoids: three bulges form above the dentate line. Bright
bleeding is common.

Stage 2: Second-degree internal haemorrhoids: the bulges increase in size and slide
downwards so that the person is aware of lumps when straining at stool, but they disappear
upon relaxing. Bleeding is a feature.

Stage 3: Third-degree internal haemorrhoids: the pile continues to enlarge and slide
downwards, requiring manual replacement to alleviate discomfort. Bleeding is also a feature.

Stage 4: Fourth-degree internal haemorrhoids: prolapse has occurred and replacement of the
prolapsed pile into the anal canal is impossible.

Symptoms
Bleeding is the main and, in many people, the only symptom. The word ‘haemorrhoid’ means
flow of blood. Other symptoms include prolapse, mucoid discharge, irritation/itching, tenesmus,
incomplete bowel evacuation and pain (see FIG. 26.6 ).

Page 304

FIGURE 26.6 Severely prolapsed haemorrhoids requiring surgery

Treatment
Invasive treatment of haemorrhoids is based on three main procedures: rubber band ligation,
cryotherapy and sphincterotomy. Injection is now not so favoured, while a meta-analysis
concluded that rubber band ligation was the most effective non-surgical therapy.9 Surgery is
generally reserved for large strangulated piles. The best treatment, however, is prevention;
softish bulky faeces that pass easily prevent haemorrhoids. People should be advised to have an
adequate intake of non-caffeinated fluids and a diet with enough fibre by eating plenty of fresh
fruit, vegetables, wholegrain cereals or bran. They should respond to the urge to defecate and
avoid straining at stool, complete their bowel action within a few minutes and avoid using
laxatives.
Anal discharge
Anal discharge refers to the involuntary escape of fluid from or near the anus. The causes may be
considered as follows.5
1. Continent
Anal fistula
irritable bowel syndrome and neurological disorders.
If there are symptoms of anal incontinence postnatally, early referral to a physiotherapist,
continence nurse adviser or colorectal surgeon is advisable.11
Among the various treatments there are surgical possibilities, which vary from direct sphincter
repair, directed injections such as collagen and silicone into the anal sphincter, and an artificial
anal sphincter (e.g. Acticon Neosphincter). A colostomy may be the last resort. It is worth
keeping in mind asking patients about the possibility of this problem and knowing ‘to whom to
refer’.
Rectal bleeding
Patients present with any degree of bleeding from a smear on the toilet tissue to severe
haemorrhage. Various causes are presented in FIGURE 26.7 . Common causes are polyps, colon
and rectal cancer, ischaemic colitis, diverticular disease and haemorrhoids.

Pilonidal sinus

STIs: anal warts, gonococcal ulcers, genital herpes

Solitary rectal ulcer syndrome

Cancer of anal margin

2. Incontinent

Minor incontinence—weakness of internal sphincter

Severe incontinence—weakness of levator ani and puborectalis

3. Partially continent

Faecal impaction

Rectal prolapse

Anal (faecal) incontinence

An Australian survey suggested 1 in 9 adults suffer some degree of faecal incontinence, which is
a common reason for institutionalisation of the elderly.10 Patients may be reluctant to seek
medical advice and doctors often do not ask specifically about the condition. The problem is as
common in men as in women.

Apart from ageing, risk factors include perianal injury, such as childbirth injury, anal surgery,
 Table 26.2 Presentation and causes of rectal bleeding

Bright red blood in toilet Internal haemorrhoids

separate from faeces
Bright red blood on toilet paper Internal haemorrhoids
Fissure
Anal cancer
Pruritus
Anal warts and condylomata
Blood and mucus on Third-degree haemorrhoids
underwear Fourth-degree haemorrhoids
Prolapsed rectum
Mucosal prolapse
Prolapsed mucosal polyp
Blood on underwear (no Ulcerated perianal haematoma
mucus) Anal cancer
Blood and mucus mixed with Colorectal cancer
faeces Proctitis
Colitis, ulcerative colitis
Large mucosal polyp
Ischaemic colitis
Blood mixed with faeces (no Small colorectal polyps
mucus) Small colorectal cancer
Melaena (black tarry stools) Gastrointestinal bleeding (usually upper) with long
transit time to the anus
Torrential haemorrhage (rare) Diverticular disorder
Angiodysplasia
FIGURE 26.7 Various causes of rectal bleeding
Large volumes of mucus in Villous papilloma of rectum
Local causes of bleeding include excoriated skin, anal fissure, a burst perianal haematoma and faeces (little blood) Villous papilloma of colon
anal cancer. A characteristic pattern of bright bleeding is found with haemorrhoids. It is usually
small non-prolapsing (therefore not visible) haemorrhoids that bleed. Blood in faeces with Rectal endometriosis
menstruation (rare)
The nature of the blood (e.g. bright red, dark red or black) and the nature of the bleeding (e.g.
smear, streaked on stool, mixed with stool, massive) gives an indication of the source of the
Source: Reproduced with permission from Orlay G. Office Proctology. Sydney: Australasian Medical Publishing Company, 1987: 11–52.
bleeding (see TABLE 26.2 ). Black tarry (melaena) stool indicates bleeding from the upper
gastrointestinal tract and is rare distal to the lower ileum. Those with melaena should be admitted Frequent passage of blood and mucus indicates a rectal tumour or proctitis, whereas more
to hospital. Page 305 proximal tumours or extensive colitis present different patterns.
Substantial haemorrhage, which is rare, can be caused by diverticular disorder, angiodysplasia or
more proximal lesions such as Meckel diverticulum and even duodenal ulcers. Angiodysplasias
are 5 mm collections of dilated mucosal capillaries and thick-walled submucosal veins, found
usually in the ascending colon of elderly people who have no other bowel symptoms. The
bleeding is persistent and recurrent. The site is identified by technetium-labelled red cell scan or
colonoscopy.
The history should also include an analysis of any associated symptoms such as pain, diarrhoea
or constipation, presence of lumps and a sensation of urgency or unsatisfied defecation. The
latter symptoms point to a rectal cause. Associated change of bowel habit suggests a diagnosis of
cancer of the rectum or left colon. Bleeding from right colon cancer is often occult, presenting as
anaemia.
dermatitis is a particularly common underlying factor. Consider also the more uncomfortable
lichen sclerosus with its ivory white sclerotic plaques, which may also be present in the genital
region.
Signs
The skin changes can vary from minimal signs to marked pathology that can show linear
ulceration, maceration or lichenification (see FIG. 26.8 ). Superficial skin changes can be moist
and macerated or dry and scaly. Full anorectal examination is necessary.
Page 306

The examination includes a general assessment, anal inspection, digital rectal examination and
proctosigmoidoscopy. Eighty per cent of rectal tumours are within fingertip range. Even if there
is an anal lesion, proximal bleeding must be excluded in all cases by sigmoidoscopy2 and by
colonoscopy if there are any bowel symptoms or no obvious anal cause or a doubt about a lesion
causing the symptoms.

Red flag pointers for rectal bleeding

Age >50 years, especially new bleeding

Change of bowel habit

Weight loss

Weakness, fatigue

Brisk bleeding
FIGURE 26.8 Lichen chronicus simplex. Lichenification from scratching with
Constipation longstanding pruritus (CHAPTER 114 )

Haemorrhoids (may be sinister) Causes and aggravating factors

Family history of cancer Psychological factors:

stress and anxiety

Pruritus ani fear of cancer

Pruritus ani, which is itching of the anus, can be a distressing symptom that is worse at night, Generalised systemic or skin disorders:
during hot weather and during exercise. It is seen typically in adult males with considerable inner
drive, often at times of stress and in hot weather when sweating is excessive. In children, seborrhoeic dermatitis
threadworm infestation should be suspected. It may be part of general itching, such as with a skin
eczema
disorder, or localised whereby various anorectal disorders have to be excluded. Seborrhoeic
 lichen sclerosus Avoid local anaesthetics, antiseptics.

diabetes mellitus Advise aqueous cream or a soap substitute to wash anus (instead of soap).

candidiasis Most effective preparations (for short13 courses):

psoriasis (look for fissures in natal cleft) methylprednisolone aceponate 0.1% in a fatty ointment; once daily until symptoms settle (up
to 4 weeks)
antibiotic treatment
or
worms: pinworm (threadworm)
hydrocortisone 1% cream/ointment
diarrhoea causing excoriation
or
Crohn disease
hydrocortisone 1% cream with clioquinol 3% or clotrimazole 1% (especially if dermatosis and
Local anorectal conditions: Candida suspected)
haemorrhoids, skin tags If an isolated area and resistant, infiltrate 0.5 mL of triamcinolone intradermally. Fractionated X-
ray therapy can be used if very severe. For a lichenified perianal area, use a potent corticosteroid
fissures/fistula ointment, e.g. betamethasone dipropionate 0.05% daily until clear.
faecal incontinence Patient education about anal hygiene is essential.
warts
Practice tips for pruritus ani
Zealous hygiene or lack of hygiene

Contact dermatitis: Most cases of uncomplicated pruritus ani resolve with simple measures, including
explanation and reassurance.
dyed or perfumed toilet tissue, soap, powder
Avoid perfumed soaps and powders. Use bland aqueous cream or a mild soap
clothing substitute.

Excessive sweating (e.g. tight pantyhose in summer) Otherwise prescribe a corticosteroid, especially methylprednisolone aceponate
0.1%. Once symptoms are controlled, use hydrocortisone 1%.13
Diagnosis
Lifestyle stress and anxiety underlie most cases.
Urinalysis (?diabetes)
In obese people with intertrigo and excessive sweating, strap the buttocks apart
Anorectal examination with adhesive tape.

Scrapings and microscopy to detect organisms Consider perianal lichen simplex and lichen sclerosus in those presenting with ‘a
sore bottom’.
Stool examination for intestinal parasites

Treatment
Patient education resources
Treat the cause (if known) and break the scratch cycle. Page 307
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Anal fissure
Haemorrhoids
Pruritus ani
References
1 Gold D. Benign anal conditions: how to treat. Australian Doctor, 20 January 2012: 19–25.
2 Lund JN, Scholefield JH. A randomised, prospective, double-blind, placebo-controlled
trial of glyceryl trinitrate ointment in treatment of anal fissure. Lancet, 1997; Jan 4: 11–13.
3 Nelson R. Nonsurgical therapy for anal fissure. Cochrane Database Syst Rev. 2006, Issue
4: Art No. CD003431.
4 Utzig MJ, Kroesen AJ, Buhr HJ. Conservative treatment of anal fissure. Am J
Gastroenterol, 2003; 98: 968–74.
5 Schnitzler M. Benign perianal conditions. Update. Medical Observer, 23 March 2007: 31–
4.
6 Perianal disorders [published 2016]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed September 2019.
7 Antibiotics [published 2019]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Guidelines Limited; 2019. www.tg.org.au, accessed September 2019.
8 Subhas G et al. Setons in the treatment of anal fistula: review of variations in materials and
techniques. Dig Surg, 2012; 29(4): 292–300.
9 MacRae HM, McLeod RS. Comparison of haemorrhoidal treatments: a meta-analysis. Can
J Surg, 1997; 40(1): 14–7.
10 Kalantar JS, Howell S, Talley NJ. Prevalence of faecal incontinence and associated risk
factors: an underdiagnosed problem in the Australian community? Med J Aust, 2002; 176:
54–7.
11 Rieger N. Faecal incontinence: how to treat. Australian Doctor, 15 February 2008: 21–6.
12 Orlay G. Office Proctology. Sydney: Australasian Medical Publishing Company, 1987:
11–52.
13 Pruritus ani [published 2015]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2015. www.tg.org.au, accessed September 2017.
Page 308
27 Thoracic back pain
The maladies that afflict the clerks aforesaid arise from three causes; first constant sitting,
secondly the incessant movement of the hand and always in the same direction, and thirdly the
strain on the midline from the effort not to disfigure the books by error or cause loss to their
employers.
THE PHYSICIAN RAMAZZINI 1713
Thoracic (dorsal) or upper back pain, which is defined as pain localised between the neck and
above the costal margin, is common in people of all ages. It accounts for 10–15% of all spinal
pain and has a 1-year prevalence in 20% of adults. Dysfunction of the joints of the thoracic
spine, with its unique costovertebral joints (which are an important source of back pain), is
commonly encountered in medical practice, especially in people whose lifestyle creates stresses
and strains through poor posture and heavy lifting. It is also referred to as non-specific thoracic
spinal pain. Muscular and ligamentous strains may be common, but they rarely come to light in
practice because they are self-limiting and not severe.
This dysfunction can cause referred pain to various parts of the chest wall and can mimic the
symptoms of various visceral diseases, such as angina, biliary colic and oesophageal spasm. In
similar fashion, heart and gall bladder pain can mimic spinal pain.
Key facts and checkpoints
The commonest site of pain in the spine is the costovertebral articulations,
especially the costotransverse articulation (see FIG. 27.1 ).
Pain of thoracic spinal origin may be referred anywhere to the chest wall, but the
commonest sites are the scapular region, the paravertebral region 2–5 cm from
midline and, anteriorly, over the costochondral region.
Thoracic (also known as dorsal) pain is more common in patients with
abnormalities such as kyphosis and Scheuermann disease.
Trauma to the chest wall (including falls on the chest such as those experienced
in body contact sport) commonly lead to disorders of the thoracic spine.
Unlike the lumbar spine, the joints are quite superficial and it is relatively easy to
find the affected (painful) segment.

Intervertebral disc prolapse is very uncommon in the thoracic spine.

The older person presenting with chest pain should be regarded as having a
cardiac cause until proved otherwise.

If the chest pain is non-cardiac, then the possibility of referral from the thoracic
spine should be considered.

The thoracic spine is the commonest site in the vertebral column for metastatic
disease.

Scheuermann disease, which affects the lower thoracic spine in adolescents, is

often associated with kyphosis and recurrent thoracic back pain. Always inspect
the thoracic spine of the younger patient for kyphosis and scoliosis, ideally at 9
years of age.

Palpation is the most important component of the physical examination.

FIGURE 27.1 The functional unit of the thoracic spine

A diagnostic approach
A summary of the diagnostic strategy model is presented in TABLE 27.1 .

Page 309
Table 27.1 Thoracic back pain: diagnostic strategy model

Probability diagnosis
Musculoligamentous strains (mainly postural)
Vertebral dysfunction (non-specific back pain)
Serious disorders not to be missed
Cardiovascular: Is the patient trying to tell me something?
acute coronary syndromes, esp. myocardial infarction Yes, quite possible with many cases of back pain.
dissecting aneurysm
pulmonary infarction
epidural haematoma (blood-thinning agents) Probability diagnosis
Neoplasia:
myeloma The commonest cause of thoracic back pain is musculoskeletal, due usually to
lung (with infiltration) musculoligamentous strains caused by poor posture. However, these pains are usually transitory
and present rarely to the practitioner. The problems that commonly present are those caused by
metastatic disease dysfunction of the lower cervical and thoracic spinal joints, especially those of the mid-thoracic
Severe infections: (interscapular) area.
epidural abscess
pleurisy Arthritic conditions of the thoracic spine are not overly common although degenerative
osteoarthritis is encountered at times; the inflammatory spondyloarthropathies are uncommon.
infectious endocarditis
osteomyelitis The various systemic infectious diseases such as influenza and Epstein–Barr mononucleosis can
Pneumothorax certainly cause diffuse backache but should be assessed in context.
Osteoporosis
Serious disorders not to be missed
Pitfalls (often missed)
Angina A special problem with the thoracic spine is its relationship with the many thoracic and upper
abdominal structures that can refer pain to the back. These structures are listed in TABLE 27.2
Gastrointestinal disorders
but, in particular, myocardial infarction and dissecting aneurysm must be considered. A complex
oesophageal dysfunction problem described by neurosurgeons is the presentation of severe sudden thoracic back pain
peptic ulcer (penetrating) caused by an epidural haematoma related to aspirin or warfarin therapy. Visceral disease causing
hepatobiliary a rupture or leakage should be kept in mind.
pancreatic
Herpes zoster Table 27.2 Non-musculoskeletal causes of thoracic back pain
Spondyloarthropathies
Costochondritis:
Heart Myocardial infarction
Tietze syndrome
Angina
Fibromyalgia syndrome
Pericarditis
Polymyalgia rheumatica
Notalgia paraesthetica Great vessels, lungs Dissecting aneurysm
Chronic infection: Pulmonary embolism (rare)
tuberculosis Pulmonary infarction
brucellosis Pneumothorax
Pneumonia/pleurisy
Seven masquerades checklist
Depression Oesophagus Oesophageal rupture
Diabetic radiculopathy Oesophageal spasm
Spinal dysfunction Oesophagitis
 Oesophageal cancer kidney, adrenals and malignant melanoma.
Subdiaphragmatic disorders of: Gall bladder Reticuloses such as Hodgkin lymphoma can involve the spine. Primary malignancies that
Stomach develop in the vertebrae include multiple myeloma and sarcoma.
Duodenum
Benign tumours to consider are often neurological in origin. The osteoid osteoma is aggravated
Pancreas by consuming alcohol and relieved by aspirin.
Subphrenic collection
The tumours of the spine are summarised in TABLE 27.3 .
Miscellaneous infections Herpes zoster
Bornholm disease
Infective endocarditis Table 27.3 Significant tumours affecting the thoracic and lumbar spine
Psychogenic
Benign Malignant
Of bone Osteoid osteoma Primary:
Cardiopulmonary problems Haemangioma multiple myeloma
Osteoblastoma lymphomas (e.g. Hodgkin)
The acute onset of pain can have sinister implications in the thoracic spine where various life- Aneurysmal bone cyst sarcoma
threatening cardiopulmonary and vascular events have to be kept in mind. The pulmonary causes Eosinophilic granuloma
of acute pain include spontaneous pneumothorax, pleurisy and pulmonary infarction. Thoracic
back pain may be associated with infective endocarditis due to embolic phenomena. The Spinal Extradural: Secondary:
ubiquitous myocardial infarction or acute coronary occlusion may, uncommonly, cause lipoma breast
interscapular back pain, while the very painful dissecting or ruptured aortic aneurysm may cause
back pain with hypotension. Page 310
neuroma lung
fibroma prostate
Osteoporosis Intradural: adrenals/kidney
neuroma thyroid
Osteoporotic pathological fracture, especially in people over 60 years, including both men and ependymoma melanoma
women, must always be considered in acute thoracic pain. The association with pain following
inappropriate physical therapy such as spinal manipulation should also be considered. chordoma Direct spread:
meningioma stomach
Acute infections large bowel
pancreas
Infective conditions that can involve the spine include osteomyelitis, tuberculosis, brucellosis,
uterus/cervix/ovary
syphilis and Salmonella infections. Such conditions should be suspected in young people
(osteomyelitis), farm workers (brucellosis) and migrants from South-East Asia and developing
nations (tuberculosis). The presence of poor general health and fever necessitates investigations Source: Reproduced with permission from Kenna C, Murtagh J. Back Pain and Spinal Manipulation (2nd edn). Oxford: Butterworth-Heinemann,
for these infections. 1997: 165–74.

The symptoms and signs that should alert the clinician to malignant disease are:
Neoplasia
back pain occurring in an older person
Fortunately, tumours of the spine are uncommon. Nevertheless, they occur frequently enough for
the full-time practitioner to very occasionally encounter metastatic disease. unrelenting back pain, unrelieved by rest (this includes night pain)
The three common primary malignancies that metastasise to the spine are those originating in the rapidly increasing back pain
lung, breast and the prostate (all paired structures). The less common primaries are the thyroid,
 constitutional symptoms (e.g. unexplained weight loss, fever, malaise)
a history of treatment for cancer (e.g. excision of skin melanoma)
Red flag pointers for thoracic back pain2
The functional unit of the thoracic spine is illustrated in FIGURE 27.1 . Although there is scant
literature and evidence about the origins of pain in the thoracic spine,3 the strongest evidence
indicates that pain from the thoracic spine originates mainly from the apophyseal joints and rib
articulations. Any one thoracic vertebra has 10 separate articulations, so the potential for
dysfunction and the difficulty in clinically pinpointing the precise joint at a particular level are
apparent.

The red flag pointers are similar to those for low back pain (see CHAPTER 28 ),
especially with regards to trauma, malignancy and suppurative infection.
FBE, ESR, CRP and a plain X-ray of the thoracic spine should be the initial screening test in the
presence of these pointers. Page 311
A trap for the thoracic spine is lung cancer, such as mesothelioma, which can invade parietal
pleura or structures adjacent to the vertebral column.
The costovertebral joints are synovial joints unique to the thoracic spine and have two
articulations—costotransverse and costocentral. Together with the apophyseal joints, they are
capable of presenting with well-localised pain close to the midline or as referred pain, often quite
distal to the spine, with the major symptoms not appearing to have any relationship to the
thoracic spine.
Generalised referral patterns are presented in FIGURE 15.2 (see CHAPTER 15 ), while the
dermatome pattern is outlined in FIGURE 27.2 .
Page 312

Pitfalls
Pitfalls include ischaemic heart disease presenting with interscapular pain, herpes zoster at the
pre-eruption stage and the various gastrointestinal disorders. Two commonly misdiagnosed
problems are a penetrating duodenal ulcer presenting with lower thoracic pain and oesophageal
spasm, which can cause thoracic back pain.

Inflammatory rheumatological problems are not common in the thoracic spine but occasionally a
spondyloarthropathy such as ankylosing spondylitis manifests here, although it follows some
time after the onset of sacroiliitis.

Seven masquerades checklist

Spinal dysfunction is the outstanding cause in this checklist. Depression always warrants
consideration in any pain syndrome, especially back pain. It can certainly cause exaggeration of
pre-existing pain from vertebral dysfunction or some other chronic problem.

Psychogenic considerations
Psychogenic or non-organic causes of back pain can present a complex dilemma in diagnosis and
management. The causes may be apparent from the incongruous behaviour and personality of the
patient, but often the diagnosis is reached by a process of exclusion. There is obviously some FIGURE 27.2 Dermatomes for the thoracic nerve roots, indicating possible
functional overlay in everyone with acute or chronic pain, hence the importance of appropriate referral areas
reassurance to these patients that their problem invariably subsides with time and that they do not
have cancer. Source: Reproduced with permission from C Kenna and J Murtagh. Back Pain and Spinal Manipulation (2nd edn), Oxford:
Butterworth-Heinemann, 1997

Anatomical and clinical features The pain pattern acts as a guide only because there is considerable dermatomal overlap within
the individual and variation from one person to another. It has been demonstrated that up to five
nerve roots may contribute to the innervation of any one point in the anterior segments of the
trunk dermatomes, a fact emphasised by the clinical distribution of herpes zoster.
Upper thoracic pain2
Dysfunction of the joints of the upper thoracic spine usually gives rise to localised pain and
stiffness posteriorly but also can cause distal symptoms, probably via the autonomic nervous
system.
A specific syndrome called the T4 syndrome4 has been shown to cause vague pain and
paraesthesia in the upper limbs and diffuse, vague head and posterior neck pain. Examination
may reveal hypomobility of the upper thoracic segments. It can respond to spinal manipulation,
which restores mobility.
However, most of the pain, stiffness and discomfort arise from dysfunction of the upper and
middle thoracic segments with a presentation of ‘pain between my shoulder blades’.
Costovertebral joint dysfunction2
The unique feature of the thoracic spine is the costovertebral joint. Dysfunction of this joint
commonly causes localised pain approximately 3–4 cm from the midline where the rib articulates
with the transverse process and the vertebral body. In addition, it is frequently responsible for
referred pain ranging from the midline, posterior to the lateral chest wall, and even anterior chest
pain.
When the symptoms radiate laterally, the diagnosis is confirmed only when movement of the rib
provokes pain at the costovertebral joint. This examination will simultaneously reproduce the
referred pain.
Confusion arises for the clinician when the patient’s history focuses on the anterior chest pain
and fails to mention the presence of posterior pain, should it be present.
The clinical approach
History
The history of a person presenting with thoracic back pain should include a routine pain analysis,
which usually provides important clues for the diagnosis. The age, sex and occupation are
relevant. Pain in the thoracic area is very common in people who sit bent over for long periods,
especially working at desks. Students and office workers are therefore at risk, as are
breastfeeding mothers, who have to lift their babies.
Spines that are kyphotic or scoliotic, or have a ‘hunchback’ secondary to disease such as
tuberculosis and poliomyelitis, are prone to recurrent thoracic pain.
Older people are more likely to present with a neoplasm or osteoporosis. Osteoporosis is usually
a trap because it is symptomless until the occurrence of a compression fracture. Symptoms
following such a fracture can persist for 3 months.
Pain that is present day and night indicates a sinister cause.
Features of the history that give an indication that the pain is arising from dysfunction of the
thoracic spine include:
Aggravation and relief of pain on trunk rotation. The pain may be increased by rotating
(twisting) towards the side of the pain but eased by rotating in the opposite direction.
Aggravation of pain by coughing, sneezing or deep inspiration. This can produce a sharp
catching pain which, if severe, tends to implicate the costovertebral joint. Care must be taken
to rule out pneumonia and pleurisy.
Relief of pain by firm pressure. Patients may state that their back pain is eased by firm
pressure such as leaning against the corner of a wall.
It is very important to consider myocardial ischaemia during history-taking.
Key questions
Can you recall injuring your back? (Lifting something heavy or a fall onto your chest or
back?)
Is the pain present during the night?
Do you have low back pain or neck pain?
Does the pain come on after walking or any strenuous effort?
Does the pain come on after eating or soon after going to bed at night?
Have you noticed a fever or sweating at any time, especially at night?
Have you noticed a rash near where you have the pain?
What drugs are you taking? Do you take drugs for arthritis or pain? Cortisone?
What happens when you take a deep breath, cough or sneeze? Page 313
Examination
The examination of the thoracic spine is straightforward with the emphasis on palpation of the
spine—central and laterally. This achieves the basic objective of reproducing the patient’s
symptoms and finding the level of pain. The ‘LOOK, FEEL, MOVE, (consider) X-RAY’ clinical
approach is most appropriate for the thoracic spine.
Inspection
Careful inspection, especially of posture, is important since it may be possible to observe at a
glance why the person has thoracic pain. Note the symmetry, any scars, skin creases and
deformities, ‘flat spots’ in the spine, the nature of the scapulae or evidence of muscle spasm.
Look for kyphosis and scoliosis.

Kyphosis may be generalised, with the back having a smooth uniform contour, or localised
where it is due to a collapsed vertebra, such as occurs in an older person with osteoporosis.
Generalised kyphosis is common in the elderly, especially those with degenerative spinal
disease. In the young it may reflect the important Scheuermann disease.

The younger person in particular should be screened for scoliosis (see FIG. 27.3 ), which
becomes more prominent on forward flexion (see FIG. 27.5 ). Look for any asymmetry of the
chest wall, inequality of the scapulae and differences in the levels of the shoulders. A useful sign
of scoliosis is unequal shoulder levels and apparent ‘winging’ of scapula. When viewed
anteriorly a difference in the levels of the nipples indicates the presence of scoliosis, or other
problems causing one shoulder to drop. Inspection should therefore take place with posterior,
lateral (side) and anterior views. For acute pain, check the skin for evidence of herpes zoster
(rash or scars).

FIGURE 27.3 Adolescent idiopathic scoliosis: typical configuration of the trunk

and thoracic spine

Palpation1
The best position is to have the patient prone on the examination table with the thoracic spine
preferably in slight flexion, if the table head can be lowered.

Test passive extension of each joint with firm pressure from the pad of the thumbs or the bony
hand (either the pisiform prominence or the lateral border of the fifth metacarpal). Spring up and
down with a few firm oscillations, keeping the elbows straight, but being well above the patient.
Ask if the pressure reproduces the pain.

Apart from asking ‘Is that the pain?’, note:

the distribution of pain and its change with movement

the range of movement

 the type of resistance in the joint osteoporosis and malignancy. However, bear in mind that the majority of spinal X-rays and
MRIs have abnormalities if you look hard enough, increasing steadily with age. Studies of
any muscle spasm lumbar and cervical MRIs in healthy volunteers find disc bulges in 70–90%.5 CT scanning has a
minimal role in the evaluation of thoracic spinal pain.
Palpation must follow a set plan in order to reproduce the patient’s pain. The sequence is as
follows: Other investigations to consider are:
1. central—over spinous processes FBE and ESR/CRP
2. unilateral—over apophyseal joints (2–3 cm from midline) serum alkaline phosphatase
3. transverse—on side of spinous processes serum electrophoresis for multiple myeloma
4. unilateral—costotransverse junctions (4–5 cm from midline) Bence–Jones protein analysis
5. unilateral—over ribs (spring over posterior rib curve with ulnar border of hand, along axis of Brucella agglutination test
rib)
blood culture for pyogenic infection and bacterial endocarditis
Movements
tuberculosis studies
There are four main movements of the thoracic spine to assess, the most important of which is
rotation, as this is the movement that so frequently reproduces the pain where it is facet joint or HLA-B27 antigen for spondyloarthropathies
costovertebral in origin.
ECG or ECG stress tests (suspected angina)
The movements of the thoracic spine and their normal ranges are:
gastroscopy or barium studies (peptic ulcer)
1. Extension 30°
MRI scanning if myelopathy is suspected
2. Lateral flexion L and R 30°
3. Flexion 90° radionuclide bone scan if neoplastic or metabolic disease is suspected
4. Rotation L and R 60°
Thoracic back pain in children
Page 314
Ask the patient to sit on the table with hands placed behind the neck and then perform The most common cause of thoracic back pain in children is ‘postural backache’, also known as
the movements. Check these four active movements, noting any hypomobility, the range of ‘TV backache’, which is usually found in adolescent schoolgirls and is a diagnosis of exclusion.
movement, reproduction of symptoms and function and muscle spasm.
Important, although rare, problems in children include infections (tuberculosis, discitis and
osteomyelitis) and tumours such as osteoid osteoma and malignant osteogenic sarcoma.
Neurological examination
Dysfunction of the joints of the thoracic spine in children and particularly in adolescents is very
This includes sensory testing for altered sensation in a dermatomal distribution. common and often related to trauma such as a heavy fall in sporting activities or falling from a
height (e.g. off a horse). Fractures, of course, have to be excluded.
Investigations
Inflammatory disorders to consider are juvenile ankylosing spondylitis and spinal
The plain X-ray and MRI scan is of no utility in patients with non-specific back pain but has a osteochondrosis (Scheuermann disease), which may affect adolescent males in the lower thoracic
place in the presence of red flags, where the MRI is most appropriate to investigate suspected spine (around T9) and thoracolumbar spine. The latter condition may be asymptomatic, but can
serious pathology. A plain X-ray may exclude basic bony abnormalities and diseases, such as be associated with back pain, especially as the person grows older. It is the commonest cause of
kyphosis. This is a structural saggital plane deformity with a dominant autosomal inheritance pattern
affecting the T7, 8, 9 or T11, 12 areas.
Kyphosis6 Page 315

Kyphosis is the normal curve of the thoracic spine when viewed from the side. The normal range Clinical features
is 20–45° (see FIG. 27.4 ). An excessive angle (>45–50°) occurs with a kyphotic deformity. In
children, a congenital cause is likely (present from infancy); in adolescents it is usually due to Age 11–17 years
Scheuermann disease or is postural; in adults consider ankylosing spondylitis—and osteoporosis
in the elderly. Tuberculosis of the spine can cause a gross deformity. Children with significant Males > females
kyphosis should be referred for consideration of an intervention: exercises, bracing or surgery.
Lower thoracic spine

Thoracic pain or asymptomatic

Increasing thoracic kyphosis over 1–2 months

Wedging of the vertebrae

Pain in the wedge, especially on bending (only 20% present with pain)

Tight hamstrings, cannot touch toes

Diagnosis confirmed by X-ray (lateral standing)—shows Schmorl node and anterior vertebral
body wedging

Treatment
Explanation and support

Extension exercises, postural correction and avoidance of sports involving lifting and bending
have minimal evidence but are often suggested7

Consider bracing or surgery if serious deformity

Adolescent idiopathic scoliosis

FIGURE 27.4 Illustration of kyphosis, which is measured by the angle
between the uppermost and lowermost inclined vertebrae on the lateral X-ray
A degree of scoliosis is detectable in 5% of the adolescent population.8 The vast majority of
curves, occurring equally in boys and girls, are mild and of no consequence. Eighty-five per cent
of significant curves in adolescent scoliosis occur in girls.8 Inheritance is a factor. The highest
incidence is in first-degree female relatives (12%). The scoliotic deformity develops at around 10
years of age. Such curves appear during the peripubertal period, usually coinciding with the
growth spurt. A screening test is to note the contour of the back on forward flexion (see
FIG. 27.5 ).

Scheuermann disease
 FIGURE 27.5 Screening for adolescent idiopathic scoliosis: testing
asymmetry by forward flexion. Viewed from behind the subject.

The test
The subject stands with the feet parallel and together, and bends forward as far as possible with
outstretched hands, palms facing each other, pointed between the great toes.

Investigation

A single erect PA spinal X-ray is sufficient;9 the Cobb angle (see FIG. 27.6 ) is the usual
measurement yardstick.

FIGURE 27.6 Scoliosis: the Cobb angle method of curve measurement

Management

Aims

To preserve good appearance—level shoulders and no trunk shift

Prevent increasing curve in adult life: less than 45°

Not to produce a straight spine on X-ray

Methods

Braces:
 Milwaukee brace (rarely used) visceral disorders: ischaemic heart disease, penetrating peptic ulcer, oesophageal disorders,
biliary disorders
high-density polyethylene underarm orthosis

to be worn for 20–22 hours each day until skeletal maturity is reached. Dysfunction of the thoracic spine
Surgical correction: depends on curve and skeletal maturity Also referred to as non-specific thoracic back pain, this is the outstanding cause of pain in
adulthood presenting to the practitioner and is relatively easy to diagnose. It is often referred to
Guidelines for treatment as the thoracic hypomobility syndrome with the disorder arising in the facet joints, costovertebral
joints and thoracic musculoligamentous structure, singularly or in combination. The most
Still growing: efficacious treatment for painful dysfunctional problems varies according to practitioners with a
special interest in this area. There is a paucity of studies and evidence supporting the multiplicity
<20° observe (repeat examination + X-ray) of therapies, especially focal injections and physical therapy. Many claim and bear testimony that
appropriate skilled mobilisation and manipulation therapy provides effective short-term,
20–30° observe, brace if progressive sometimes immediate, relief.10
30–45° brace
≥45–50° operate
Typical profile:1
Age Any age, especially between 20 and 40 years
History of Sometimes slow or sudden onset
Growth complete:
injury
<45° leave alone Site and Spinal and paraspinal—interscapular, arms, lateral chest, anterior
radiation chest, substernal, iliac crest
>45° operate
Type of Dull, aching, occasionally sharp; severity related to activity, site and
Referral to consultant: >20° pain posture
Aggravation Deep inspiration, postural movement of thorax, slumping or bending,
Page 316
walking upstairs, activities (e.g. lifting children, making beds), beds
too hard or soft, sleeping or sitting for long periods
Thoracic back pain in adults Association Chronic poor posture
Diagnosis Examination of spine, therapeutic response to manipulation
Elderly patients: thoracic back pain due to mechanical causes is not such a feature in the elderly,
confirmation
although vertebral dysfunction still occurs quite regularly. However, when the older person
presents with thoracic pain, a very careful search for organic disease is necessary. Special
problems to consider are:
Management
malignant disease (e.g. multiple myeloma, lung, prostate)
First-line management
osteoporosis
Explanation with printed information
vertebral pathological fractures
Reassurance, including spontaneous recovery likely
polymyalgia rheumatica
Continued activity according to pain level
Paget disease (may be asymptomatic)
Back education program
herpes zoster
 Analgesics, if required (e.g. paracetamol 1 g (o) qid or 1.33 g (o) 8 hourly), is first line
Posture education and specific mobilising exercise program, esp. extension and rotation
exercises to overcome stiffness
Physical therapy: a short course of spinal mobilisation and manipulation (if appropriate) to
help with pain and mobility
Spinal mobilisation and manipulation
The evidence for manipulative therapies relieving back pain is generally disappointing; two
Cochrane systematic reviews found that it is probably no better than placebo for acute pain, and
very little better for chronic pain.11,12 However, individual practitioners and patients seem to find
immediate pain relief from spinal mobilisation or the more forceful manipulative therapy (used
with extreme care, especially with osteoporosis). Many techniques can be employed, the choice
depending on which part of the back is affected.9
Thoracic disc protrusion
Fortunately, a disc protrusion in the thoracic spine is uncommon. This reduced incidence is
related to the firm splintage action of the ribcage. Most disc protrusions occur below T9, with the
commonest site, as expected, being T11–12.
The common presentation is back pain and radicular pain that follows the appropriate dermatome
so disc protrusion should be considered in those with neurological signs at thoracic levels. This
may include a flaccid area of the lower abdominal musculature.
However, disc lesions in the thoracic spine are prone to produce spinal cord compression,
manifesting as sensory loss, bladder incontinence and signs of upper motor neurone lesion. The
disc is relatively inaccessible to surgical intervention, but may be reached via the transthoracic
lateral approach.
Page 317
Syrinx
A syrinx usually comes to notice as a radiological finding in the presence of thoracic back pain
when it may in fact be asymptomatic. It is a rare, fluid-filled neurological cavity within the spinal
cord. It is usually a congenital anomaly, but a neoplasm needs to be excluded. An MRI of the
spinal cord defines the problem. Any symptoms usually appear between adolescence and age 50,
due to a central cord syndrome (CHAPTER 51 ). A syrinx usually begins at the cervical level
and extends down. Treat conservatively, but refer to a specialist, who may consider surgical
intervention if it is symptomatic.
Muscle injury
Muscular injuries such as tearing are uncommon in the chest wall. The strong paravertebral
muscles do not appear to be a cause of chest pain, but strains of intercostal muscles, the serratus
anterior and the musculotendinous origins of the abdominal muscles can cause pain. Injuries to
these muscles can be provoked by attacks of violent sneezing or coughing, or overstrain, e.g.
lifting a heavy suitcase down from an overhead luggage rack.
Scapulothoracic joint disorders13
The gliding plane between the scapula and thoracic wall permits a considerable range of scapular
movement, which contributes significantly to movement of the shoulder. Several muscles,
including the rhomboids, serratus anterior and levator scapulae, help stabilise scapular movement
and may be a source of pain in the scapular region.
Snapping scapula
The person complains of a loud cracking or snapping sound upon abduction of the scapula. There
is often associated crepitus. Pain is felt along the medial scapular border. Some people develop a
habit (‘tic’) of neurotically clicking the shoulder back and forth.
On examination, there is usually generalised hypermobility of the scapula, abnormal movement
and tenderness to palpation along the medial edge on full abduction.
The cause (uncommon) may be an underlying bony abnormality such as a bony spur on the
superior border of the scapula or an osteoma. X-rays should include a lateral view of the scapula
to search for this possibility.
Treatment
Explanation and reassurance (if X-rays normal)—otherwise resect any bone abnormality.
Avoid repeated scapular movement and ‘trick’ movements.
Appropriate exercises under physiotherapy supervision.
Infiltrate any very tender area in the muscle (with care) with local anaesthetic and steroid.
Deep massage to the tender focus.
Scapulocostal syndrome
This condition causes localised pain and tenderness, often severe, along the upper part of the
medial scapular border, with radiation around the chest wall and shoulder girdle to the neck. Pain
is usually worse with prolonged shoulder use towards the end of the day. It is commonly seen in
typists, gymnasts and other sportspeople. It is related to poor posture. The cause may include
friction between the scapula and the thoracic wall, scoliosis, trauma and myofascial strain due to
poor posture.
Treatment
Avoid the movements producing the pain.

Posture and re-education exercises and scapula stretching.

Deep friction massage.

Local injections of local anaesthetic and corticosteroid into the tender area.

Winging of the scapula

The asymmetry may not be apparent until the patient tries to contract the serratus anterior against
resistance by pushing the outstretched arm against a wall. There may be parascapular discomfort.
The common cause is neurogenic paralysis of the serratus anterior muscle. Paralysis may result
from injury to the long thoracic nerve (from C5, 6, 7 nerve roots) such as a neck injury or a direct
blow to the suprascapular area and from injury to the brachial plexus such as excessive carrying
of heavy packs, severe traction on the arm or forceful cervical manipulation. Most cases settle
spontaneously, although it may take 1–2 years.

Fibromyalgia, fibrositis and myofascial trigger

points
Fibromyalgia is relatively uncommon, but when encountered it presents an enormous
management problem. It is not to be confused with so-called fibrositis or tender trigger points.
Referral to a specialist with expertise in this condition or to a multidisciplinary pain clinic for the
definitive diagnosis is recommended. Page 318

Fibrositis is not a diagnosis but a symptom, indicating a localised area of tenderness or pain in
the soft tissues, especially of the upper thoracic spine. It is probably almost always secondary to
upper thoracic or lower cervical spinal dysfunction.

Myofascial trigger points FIGURE 27.7 Injection for myofascial trigger points
As described by Travell and Rinzler in 1952,14 a trigger point is characterised by local
tenderness in a muscle that twitches upon stimulation and causes referred pain when subjected to Fibromyalgia syndrome17
pressure. However, under blinded conditions there is little consistency in the science behind
reliably identifying those points.15 Regardless, local injection is relatively easy and safe, and AKA chronic diffuse non-inflammatory pain. Its pathophysiology is poorly understood.
individuals may experience temporary pain relief.
Clinical features
16
Treatment
The main diagnostic features are:18
Identify the maximal point of pain and inject 5–8 mL of local anaesthetic (e.g.
lignocaine/lidocaine 1%. Do not use corticosteroids) into the painful point (see FIG. 27.7 ). 1. a history of widespread pain (neck to low back) affecting all four body quadrants
Post-injection massage or exercises should be performed.
2. fatigue, sleep problems, cognitive disturbance Other features

3. pain in 11 of 18 tender points on digital palpation (the original definition in 1990) Female to male ratio = 4:1

4. pain for at least 3 months Usual age onset 29–37 years: diagnosis 44–53 years

These points must be painful, not tender. Smythe and Moldofsky have recommended 14 of these Positive family history
points on a map as a guide for management17 (see FIG. 27.8 ). No consistent measurable
investigations have been identified. If ESR/CRP are elevated, look for alternative diagnoses. Psychological disorders (e.g. anxiety, depression, tension headache, irritable digestive system)
Page 319
This disorder is difficult to treat, and the GP needs to coordinate care and be responsive
to individual needs as they evolve over time.18 Management requires considerable explanation,
support (counselling) and reassurance. Best evidence to date supports the value of educational
programs and regular aerobic exercise.18,19,20 Treat pain (simple analgesics—paracetamol) and
depression (psychologist referral, antidepressants) on their merits. Consider referral to a
specialist or fibromyalgia clinic. Referral to allied health practitioners can be very useful.

Note: NSAIDs and narcotics are of no proven benefit.

Medication (often disappointing but worth a trial)

Antidepressants (of short-term value, where relevant);21 start low then monthly increments as
tolerated:

amitriptyline 10–50 mg (o) nocte

or

dothiepin 25–75 mg (o) nocte

or

duloxetine 30 mg (o) mane, increasing to 60 mg over 2 weeks22

Note: NSAIDs and narcotics are of no proven benefit.

Diffuse idiopathic skeletal hyperostosis (DISH)

DISH is ligamentous ossification of the spine leading to progressive stiffness and possible pain
in some parts. Possible associated metabolic disorder, e.g. diabetes. Ankylosing spondylitis is a
differential diagnosis.

There is no specific treatment. Manage as for spinal dysfunction.

FIGURE 27.8 Fibromyalgia syndrome: typical tender points (the tender point
map represents the 14 points recommended for use as a standard for Serious pitfalls
diagnostic or therapeutic studies)

The following points regarding serious vertebral organic disease are worth repeating in more
detail.
Metastatic disease23
Secondary deposits in the thoracolumbar spine may be the first presenting symptoms of
malignant disease. Any patient of any age presenting with progressive severe nocturnal back pain
should be regarded as having a tumour and investigated with a technetium bone scan as part of
the primary investigations.
Secondary deposits in the spine can lead to rapid onset paralysis due to spinal cord infarction.
Many such metastases can be controlled in the early stages with radiotherapy.
Multiple myeloma
Osteoporotic vertebral body collapse should be diagnosed only when multiple myeloma has been
excluded. Investigations should include an ESR, Bence–Jones protein analysis and
immunoglobulin electrophoresis.
Early treatment of multiple myeloma can hold this disease in remission for many years and
prevent crippling vertebral fractures (see CHAPTER 17 ).
Infective discitis, vertebral osteomyelitis and
epidural/subdural abscess
Severe back pain in an unwell patient with fluctuating temperature (fever) should be considered
as infective until proved otherwise. Investigations should include blood cultures, serial X-rays
and nuclear bone scanning. Biphasic bone scans using technetium with either indium or gallium
scanning for white cell collections usually clinch this diagnosis.
Strict bed rest with high-dose antibiotic therapy is usually curative. If left untreated, vertebral
end plate and disc space collapse is common and extremely disabling. Consider tuberculosis
osteomyelitis in people at risk. Suspect an epidural abscess in the presence of persistent and
increased back pain. Percuss the spine for localised tenderness (see CHAPTER 20 ).
When to refer
Persistent pain or dysfunction—refer to a physiotherapist or exercise specialist.
Evidence or suspicion of a sinister cause (e.g. neoplasia, infective discitis/osteomyelitis in a
child).
Suspicion of cardiac or gastrointestinal referred (persistent) pain.
Significant adolescent scoliosis or kyphosis (e.g. Scheuermann disease).
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Exercises for your thoracic spine
Fibromyalgia
Scoliosis Page 320
Practice tips
Feelings of anaesthesia or paraesthesia associated with thoracic spinal
dysfunction are rare.
Thoracic back pain is frequently associated with cervical lesions.
Upper thoracic pain and stiffness is common after ‘whiplash’.
The T4 syndrome of upper to mid-thoracic pain with radiation (and associated
paraesthesia) to the arms is well documented.
Symptoms due to a fractured vertebra usually last 3 months and to a fractured rib
6 weeks.
The pain of myocardial ischaemia, from either angina or myocardial infarction, can
cause referred pain to the interscapular region of the thoracic spine.
Beware of the old trap of herpes zoster in the thoracic spine, especially in the
older person.
Consider multiple myeloma as a cause of an osteoporotic collapsed vertebra.
Examine movements with the patient sitting on the couch and hands clasped
behind the neck.
Spinal disease of special significance in the thoracic spine includes osteoporosis
and neoplasia, while disc lesions, inflammatory diseases and degenerative
diseases (spondylosis) are encountered less frequently than with the cervical and
lumbar spines.
It is imperative to differentiate between spinal and cardiac causes of chest pain:
either cause is likely to mimic the other. A working rule is to consider the cause as
cardiac until the examination and investigations establish the true cause.
Always X-ray the thoracic spine following substantial trauma, especially after
 motor vehicle accidents, as wedge compression fractures (typically between T4 Corrigan B, Maitland G. Practical Orthopaedic Medicine. Sydney: Butterworths, 1986:
13 384–5.
and T8) are often overlooked.

Plain X-ray, CT scan or MRI are of no utility in patients with non-specific thoracic 14 Travell J, Rinzler SH. The myofascial genesis of pain. Postgrad Med, 1952; 11: 425–34.
back pain.
15 Quintner J et al. A critical evaluation of the trigger point phenomenon. Rheumatology,
MRI is the most appropriate imaging to investigate suspected serious pathology. March 2015; 54(3): 392–9.

16 Simons D. Understanding effective treatments of myofascial trigger points. J Bodyw Mov

Ther, 2002; 6: 81–5.
References
17 Smythe HA, Moldofsky H. Two contributions to understanding of the ‘fibrositis’
syndrome. Bull Rheum Dis, 1977; 28: 928–31.
1 Kenna C, Murtagh J. Back Pain and Spinal Manipulation (2nd edn). Oxford: Butterworth-
Heinemann, 1997: 165–74. 18 Guymer E, Littlejohn G. Fibromyalgia. Australian Family Physician, Oct 2013; 42(10):
690–4.
2 Australian Acute Musculoskeletal Pain Guidelines Group. Evidence-Based Management of
Acute Musculoskeletal Pain—A Guide for Clinicians. Bowen Hills, QLD: Australian 19 Clauw DJ. Fibromyalgia: a clinical review. JAMA, 2014; 311 (15): 1547–55.
Academic Press, 2004.
20 Theadom A et al. Mind and body therapy for fibromyalgia. Cochrane Database Syst Rev,
3 Johansson MS et al. Incidence and prognosis of mid-back pain in the general population: a 2015; Issue 4: Art No. CD001980.
systemic review. Eur J Pain, 2017; 21(1): 20–8.
21 Fibromyalgia [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
4 McGuckin N. The T4 syndrome. In: Grieve GD, ed. Modern Manual Therapy of the Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed January 2020.
Vertebral Column. London: Churchill Livingstone, 1986: 370–6.
22 Chappell AS et al. A 1-year safety and efficacy study of duloxetine in patients with
5 Nakashima H et al. Abnormal findings on magnetic resonance images of the cervical fibromyalgia. Clin J Pain, 2009; 25(5): 365–75.
spines in 1211 asymptomatic subjects. Spine, 2015 (March); 40(6): 392–8.
23 Young D, Murtagh J. Pitfalls in orthopaedics. Aust Fam Physician, 1989; 18: 653–4.
6 Sponseller P. The 5-minute Orthopaedic Consult. Philadelphia: Lippincott, Williams and
Wilkins, 2001: 184–5.

7 Bezalel T et al. Scheuermann’s disease: current diagnosis and treatment approach. J Back
Musculoskelet Rehabil, 2014; 27(4): 383–90.

8 Stephens J. Idiopathic adolescent scoliosis. Aust Fam Physician, 1984; 13: 180–4.

9 Anonymous. The Easter Seal Guide to Children’s Orthopaedics. Toronto: The Easter Seal
Society, 1982: 64–7.

10 Schiller L. Effectiveness of spinal manipulation therapy in the treatment of mechanical

thoracic back pain. J Manip Physiol Ther, 2001; 24: 394–401.

11 Rubinstein SM et al. Spinal manipulative therapy for chronic low‐back pain. Cochrane
Database of Syst Rev, 2011; Issue 2.

12 Rubinstein SM et al. Spinal manipulative therapy for acute low‐back pain. Cochrane
Database of Syst Rev, 2012; Issue 9.
 Page 321 patients; 2–7% develop chronic pain.4

It most commonly occurs in those aged 30–60 years, the average age being 45
years.5

28 Low back pain It is difficult to assign a specific pathoanatomical cause in acute back pain
(perhaps 8–15%),6 but the most common cause is probably a minor
muscle/ligament strain (often don’t present to a doctor), followed by dysfunction
of the intervertebral joints of the spine (‘mechanical back pain’) and spondylosis
(synonymous with osteoarthritis and degenerative back disease).

Last Wednesday night while carrying a bucket of water from the well, Hannah Williams slipped L5 and S1 nerve root lesions represent most of the cases of sciatica presenting
upon the icy path and fell heavily upon her back. We fear her spine was injured for though she in general practice. They tend to present separately but can occur together with a
suffers acute pain in her legs she cannot move them. The poor wild beautiful girl is stopped in massive disc protrusion.
her wildness at last.
An intervertebral disc prolapse is causative in only 6–8% of cases of back pain,3
and only a small fraction of those require urgent diagnosis and surgical
FRANCIS KILVERT 1874 treatment.
Low back pain accounts for at least 5% of general practice presentations. It is a massive problem
worldwide. The most common cause is minor soft tissue injury, but patients with this do not
usually seek medical help because the problem settles within a few days. Causes of low back pain
Most back pain in patients presenting to GPs is postulated to be due to dysfunction of elements
of the mobile segment, namely the facet joint, the intervertebral joint (with its disc) and the To develop a comprehensive diagnostic approach, the practitioner should have a clear
ligamentous and muscular attachments. This problem, often referred to as mechanical back pain, understanding of the possible causes of low back and leg pain (see FIG. 28.1 ) and of the
will be described as vertebral dysfunction—a general term that, while covering radicular and relative frequency of their clinical presentations. Page 322
non-radicular pain, includes dysfunction of the joints of the spine, although the specific origin in
most instances cannot be determined. It is therefore appropriate to refer to this as ‘non-specific
back pain’.1

Key facts and checkpoints

Back pain accounts for 2.6% of all presenting problems in Australian general
practice.2

In the US it is the commonest cause of limitation of activity in those under the age
of 45.3

Approximately 85–90% of the population will experience back pain at some stage
of their lives, while 70% of the world’s population will have at least one disabling
episode of low back pain in their lives.3

At least 50% of these people will recover within 2 weeks and 90% within 6
weeks, but recurrences are frequent and have been reported in 40–70% of

FIGURE 28.1 Relevant causes of back pain with associated buttock and leg
pain
Anatomical and pathophysiological concepts
Studies have focused on the importance of disruption of the intervertebral disc in the cause of
back pain. A very plausible theory has been advanced by Maigne5 who proposes the existence, in
the involved mobile segment, of a minor intervertebral derangement (MID). He defines it as
‘isolated pain in one intervertebral segment, of a mild character, and due to minor mechanical
cause’.
The MID always involves one of the two apophyseal joints in the mobile segment, thus initiating
nociceptive activity in the posterior primary dermatome and myotome.
Maigne points out that the functional ability of the mobile segment depends intimately upon the
condition of the intervertebral disc. Thus, if the disc is injured, other elements of the segment
will be affected.
FIGURE 28.2 Reflex activity from a MID in the intervertebral motion segment.
Apart from the local effect caused by the disruption of the disc (A), interference
can occur in the facet joint (B) and interspinous ligament (C) leading possibly
to muscle spasm (D) and skin changes (E) via the posterior rami.
Source: Reproduced with permission from C Kenna and J Murtagh. Back Pain and Spinal Manipulation. Sydney: Butterworths, 1989
In theory, any structure with a nociceptive nerve supply may be a source of pain. Such structures
include the ligaments, fascia and muscles of the lumbosacral spine, intervertebral joints, facet
joints, dura mater and sacroiliac joints.7
Actually, pain can theoretically arise from any innervated structure in the region of the spine. It
can be neurogenic, spondylogenic, viscerogenic, vasculogenic or rarely psychogenic.
Page 323
A diagnostic approach
A summary of the diagnostic strategy model is presented in TABLE 28.1 . Prostatitis
Endometriosis
Table 28.1 Low back pain: diagnostic strategy model Seven masquerades checklist
Depression
Probability diagnosis Spinal dysfunction
Vertebral dysfunction (non-specific low back pain) UTI
Musculoligamentous strain/sprain Is the patient trying to tell me something?
Spondylosis (degenerative OA) Quite likely. Consider lifestyle, stress, work problems, malingering, conversion
Serious disorders not to be missed reaction.
Cardiovascular:
Note: Associated buttock and leg pain included.
ruptured aortic aneurysm
retroperitoneal haemorrhage (anticoagulants)
Neoplasia:
Probability diagnosis7
myeloma The commonest cause of low back pain is vertebral dysfunction or mechanical pain, which then
carcinoma of pancreas has to be further analysed. The term can embrace musculoskeletal strain, discogenic and
metastases posterior ligament pain, and facetogenic dysfunction/pain.
Severe infections: Degenerative changes in the lumbar spine (lumbar spondylosis) are commonly found in the older
vertebral osteomyelitis age group. This problem, and one of its complications, spinal canal stenosis, is steadily
epidural abscess increasing along with the ageing population.
septic discitis
tuberculosis Serious disorders not to be missed
pelvic abscess/PID
It is important to consider malignant disease, especially in an older person. It is also essential to
Osteoporotic compression fracture/other fracture
consider infection such as acute osteomyelitis and tuberculosis, which is often encountered in
Cauda equina compression recent immigrants, especially those from Asia and central Africa. The uncommon epidural or
subdural abscess should also be kept in mind, especially if any fever (see CHAPTER 20 ). These
Pitfalls (often missed)
conditions are considered in more detail under infections of the central nervous system. For pain
Spondyloarthropathies: or anaesthesia of sudden onset, especially when accompanied by neurological changes in the
ankylosing spondylitis legs, consider cauda equina compression due to a massive disc prolapse and also retroperitoneal
reactive arthritis haemorrhage. It is important to ask patients if they are taking anticoagulants. See TABLE 28.2 .
psoriasis
bowel inflammation Table 28.2
‘Red flag’ pointers to serious low back pain conditions8
Sacroiliac dysfunction
Spondylolisthesis
Age >50 years or <20 years; consider osteoporosis
Claudication:
History of cancer
vascular
Temperature >37.8°C
neurogenic/spinal canal stenosis
Constant pain—day and night esp. severe night pain
Paget disease
Unexplained weight loss
 Symptoms in other systems, e.g. cough, breast mass The ‘red flag’ symptoms or signs (see TABLE 28.2 ) should alert the practitioner to a
Significant trauma; sometimes mild trauma serious health problem and thus guide selection of investigations, particularly
Features of spondyloarthropathy, e.g. peripheral arthritis (e.g. age <40 years, night- appropriate imaging of the lumbar spine.
time waking)
Neurological deficit, e.g. numbness, paraesthesia in limb
Drug or alcohol abuse, especially IV drug use Seven masquerades checklist
Use of anticoagulants
Of these conditions, depression and urinary tract infection have to be seriously considered. For
Use of corticosteroids the young woman with upper lumbar pain, especially if she is pregnant, the possibility of a
No improvement over 1 month urinary tract infection must be considered even in the absence of urinary symptoms such as
Possible cauda equina syndrome: dysuria and frequency.
saddle anaesthesia
Depressive illness has to be considered in any chronic pain complaint. This common psychiatric
recent onset bladder dysfunction/overflow incontinence disorder can continue to aggravate or maintain the pain even though the provoking problem has
bilateral or progressive neurological deficit disappeared.

Page 324 Psychogenic considerations

Pitfalls
The inflammatory disorders must be kept in mind, especially the spondyloarthropathies, which
include psoriatic arthropathy, ankylosing spondylitis, reactive arthritis and inflammatory bowel
disorders such as ulcerative colitis and Crohn disease. The spondyloarthropathies are more
common than appreciated and must be considered in the younger person presenting with features
of inflammatory back pain (i.e. pain at rest, relieved by activity). The old trap of confusing
claudication in the buttocks and legs, due to a high arterial obstruction, with sciatica must be
avoided.
General pitfalls
Being unaware of the characteristic symptoms of inflammation and thus misdiagnosing one of
the spondyloarthropathies.
Overlooking the early development of malignant disease or osteomyelitis; if suspected, and an
X-ray is normal, a radionuclide scan should detect the problem.
Failing to realise that mechanical dysfunction and osteoarthritis can develop simultaneously,
producing a combined pattern.
Chronic back pain is more likely to occur in people who have become anxious about their
problem or who are under excessive stress. It may be necessary to probe beneath the surface of
the presenting problem. Consider counselling, or a therapeutic trial of an antidepressant
medication where appropriate. The possibility of malingering should also be considered in some
circumstances, although with great caution.
Low back pain following lifting at work poses a problem that causes considerable anguish to
doctors, especially when the pain becomes chronic and complex. Chronic pain may be the last
straw for those who have been struggling to cope with personal problems; their fragile
equilibrium is upset by the back pain. The importance of a caring, competent practitioner with an
insight into all facets of his or her patient’s suffering, organic and functional, becomes obvious.
The tests for non-organic back pain are very useful in this context.
Yellow flag pointers
This term has been introduced to identify psychosocial and occupational factors that
may increase the risk of chronicity in people presenting with acute back pain.
Consider psychological issues if:

Overlooking anticoagulants as a cause of a severe bleed around the nerve roots, or abnormal illness behaviour
corticosteroids leading to osteoporosis.
‘fear avoidance’: concern re pain on activity
Not recognising back pain as an infective complication of IV drug use.
compensation issues

unsatisfactory restoration of activities

Red flag pointers for low back pain
 failure to return to work activity
Radiation More localised, bilateral or Tends to be diffuse, unilateral
unsatisfactory response to treatment
alternating
treatment refused Intensity Night, early morning End of day, following activity

atypical presenting physical signs

The clinical approach

Nature of the pain
History
The nature of the pain may reveal its likely origin. Establish where the pain is worst—whether it
is central (proximal) or peripheral. The following are general characteristics and guides to Analysing the history invariably guides the clinician to the diagnosis. The pain patterns have to
diagnosis: be carefully evaluated and it is helpful to map the diurnal variations of pain to facilitate the
diagnosis (see FIG. 28.3 ).
aching throbbing pain = inflammation (e.g. sacroiliitis)

deep aching diffuse pain = referred pain (e.g. dysmenorrhoea)

superficial steady diffuse pain = local pain (e.g. muscular strain)

boring deep pain = bone disease (e.g. neoplasia, Paget disease) Page 325

intense sharp or stabbing (superimposed on a dull ache) = radicular pain (e.g. sciatica)

A comparison of the significant features of the two most common types of pain—mechanical and
inflammatory—is presented in TABLE 28.3 .

Table 28.3 Comparison of the patterns of pain for inflammatory and

mechanical causes of low back pain9

Feature Inflammation Mechanical

History Insidious onset Precipitating injury/previous
episodes
Nature Aching, throbbing Deep dull ache, sharp if root
compression
Stiffness Severe, prolonged Moderate, transient
Morning stiffness
Effect of Exacerbates Relieves
rest
Effect of Relieves Exacerbates FIGURE 28.3 Typical daily patterns of pain for conditions causing back pain.
 Note conditions that can wake people from sleep (red spikes) and also the
pattern of combined mechanical and inflammatory pain.
It is especially important to note the intensity of the pain and its relation to rest and activity. In
particular, ask whether the pain is present during the night, whether it wakes the patient, is
present on rising or whether it is associated with stiffness.
Continuous pain, present day and night, is suggestive of neoplasia or infection. Pain on waking
suggests inflammation or depressive illness. Pain provoked by activity and relieved by rest
suggests mechanical dysfunction, while pain worse at rest and relieved by moderate activity is
typical of inflammation. In some patients the coexistence of mechanical and inflammatory causes
complicates the pattern.
Pain aggravated by standing or walking that is relieved by sitting is suggestive of
spondylolisthesis. Pain aggravated by sitting (usually) and improved with standing indicates a
discogenic problem.
Pain of the calf that travels proximally with walking indicates vascular claudication; pain in the
buttock that descends with walking indicates neurogenic claudication. This latter problem is
encountered more frequently in older people who have a tendency to spinal canal stenosis
associated with spondylosis.
What medication are you taking? Are you on anticoagulants?
Are you under any extra stress at work or home?
Do you feel tense, depressed or irritable?
Page 326
Examination
Physical examination
The basic objectives of the physical examination are to reproduce the symptoms, detect the level
of the lesion and determine the cause (if possible) by provocation of the affected joints or tissues.
This is done using the time-honoured method of joint examination—look, feel, move and test
function. The patient should be stripped to a minimum of clothing so that careful examination of
the back can be made. A neurological examination of the lower limb should be performed if
symptoms extend below the buttocks. If cauda equina syndrome is suspected, perform a rectal
examination to check for flaccidity.
A useful screening test for a disc lesion and dural tethering is the slump test.10

The main components of the physical examination are:

Key questions
1. inspection
What is your general health like?
2. active movements: note which ones reproduce the symptoms
Can you describe the nature of your back pain?
forward flexion
Was your pain brought on by an injury?
extension
Is it worse when you wake in the morning or later in the day?
lateral flexion (R and L)
How do you sleep during the night?
3. provocative tests (to reproduce the symptoms)
What effect does rest have on the pain?
4. palpation (to detect level of pain)
What effect does activity have on the pain?
5. neurological testing of lower limbs (if appropriate)
Is the pain worse when sitting or standing?
6. testing of related joints (hip, sacroiliac)
What effect does coughing or sneezing, or straining at the toilet have?
7. assessment of pelvis and lower limbs for any deformity (e.g. leg shortening)
What happens to the pain in your back or leg if you go for a long walk?
8. general medical examination, including rectal examination if appropriate
Do you have a history of psoriasis, diarrhoea, penile discharge, eye trouble or severe pain in
your joints?
Important landmarks
Do you have any urinary symptoms?
The surface anatomy of the lumbar region is the basis for determining the vertebral level. Key
anatomical landmarks include the iliac crest, spinous processes, the sacrum and the posterior
superior iliac spines (PSISs).

The tops of the iliac crest lie at the level of the L3–4 interspace (or the L4 spinous process).

The PSISs lie opposite S2.

Inspection

Inspection begins from the moment the patient is sighted in the waiting room. A person who is
noted to be standing is likely to have a significant disc lesion. Considerable information can be
obtained from the manner in which they arise from a chair, move to the consulting room, remove
shoes and clothes, get onto the examination couch and move when unaware of being watched.

The spine must be adequately exposed and inspected in good light. Patients should undress to
their underwear; women may retain their bra and ideally provide them with a gown that opens
down the back. Note the general contour and symmetry of the back and legs, including the
buttock folds, and look for muscle wasting. Note the lumbar lordosis and any abnormalities, such
as lateral deviation. If lateral deviation (functional scoliosis) is present it is usually away from
the painful side.

Note the presence of midline moles, tufts of hair or haemangioma that might indicate an
underlying congenital anomaly, such as spina bifida occulta.

Movements of the lumbar spine

There are three main movements of the lumbar spine. However, rotation, which mainly occurs at
the thoracic spine, is not usually measured. The movements that should be tested, and their
normal ranges, are as follows:

extension (20–30°) (see FIG. 28.4A )

lateral flexion, left and right (30°) (see FIG. 28.4B )

flexion (75–90°: average 80°, or record where fingertips reach) (see FIG. 28.4A )
 Palpation occurs at three main sites:

centrally (spinous processes to coccyx)

unilateral—right and left sides (1.5 cm from midline)

transverse pressure to the sides of the spinous processes (R and L)

Straight leg raising (SLR) test (Lasègue test)

This test is a passive test by the practitioner. The patient lies supine with both knees extended
and the ankle dorsiflexed. The affected leg is raised slowly, keeping the knee extended. If
sciatica with dural irritation is present, 20° to 60° of elevation causes reproduction of pain.
Page 327
Slump test

The slump test is an excellent provocation test for lumbosacral pain and is more sensitive than
the SLR test. It is a screening test for a disc lesion and dural tethering. It should be performed on
those who have low back pain with pain extending into the leg, and especially for posterior thigh
pain.

A positive result is reproduction of the patient’s pain, and may appear at an early stage of the test
(when it is ceased).

Method:

FIGURE 28.4 (a) Degrees of movement of the lumbar spine: flexion and
extension, (b) degree of lateral flexion of the lumbar spine
Source: Reproduced with permission from C Kenna and J Murtagh. Back Pain and Spinal Manipulation. Sydney: Butterworths, 1989
1. The patient sits on the couch in a relaxed manner with knees at the edge of the table.
2. The patient then slumps forward (without excessive trunk flexion), and then places the chin on
the chest.

Measurement of the angle of movement can be made by using a line drawn between the sacrum 3. The unaffected leg is straightened.
and large prominence of the C7 spinous process.
4. The affected leg only is then straightened (see FIG. 28.5 ).
Palpation

Have the patient relaxed, lying prone, with the head to one side and the arms by the sides. The
levels of the spinous processes are identified by standing behind the patient and using your hands
to identify the L4 spinous process in relation to the top of the iliac crests. Mark the important
reference points.

Palpation, which is performed with the tips of the thumbs opposed, can commence at the spinous
process of L1 and then systematically proceed distally to L5 and then over the sacrum and
coccyx. Include the interspinous spaces as well as the spinous processes. When the thumbs (or
other part of the hand such as the pisiforms) are applied to the spinous processes, a firm pressure
is transmitted to the vertebrae by a rocking movement for three or four ‘springs’. Significant
reproduction of pain is noted.
 Neurological examination10
A neurological examination is performed only when the symptoms, such as pain, paraesthesia,
anaesthesia and weakness, extend into the leg.

The importance of the neurological examination is to ensure that there is no compression of the
spinal nerves from a prolapsed disc or from a tumour. This is normally tested by examining those
functions that the respective spinal nerves serve, namely skin sensation, muscle power and reflex
activity.

The examination is not daunting but can be performed quickly and efficiently in 2 to 3 minutes
by a methodical technique that improves with continued use. The neurological examination
consists of: Page 328

1. quick tests: walking on heels (L5), walking on toes (S1)

2. dural stretch tests: slump test, straight leg raising

3. specific nerve root tests (L4, L5, S1): sensation, power, reflexes

Main nerve roots

Refer to FIGURE 28.6 and to TABLE 55.3 .

FIGURE 28.5 The slump test: one of the stages

5. Both legs are straightened together.

6. The foot of the affected straightened leg is dorsiflexed.

Note: Take care to distinguish from hamstring pain. Deflexing the neck relieves the pain of
spinal origin, but not hamstring pain.

Significance of the slump test

It is positive if the back or leg pain is reproduced.

If positive, it suggests disc disruption.

If negative, it may indicate lack of serious disc pathology.

If positive, one should approach manual therapy with caution.

 FIGURE 28.6 The main motor, sensory and reflex features of the nerve roots less than 1% have serious pathology.6
L5 and S1
Page 329

L3: Screening tests

femoral stretch test (prone, flex knee, extend hip) These are most important for the patient presenting with chronic back pain, especially in the
presence of ‘red flags’, when serious disease such as malignancy, osteoporosis, infection or
motor: extension of knee spondyloarthropathy must be excluded. The screening tests for chronic pain are:

sensation: anterior thigh plain X-ray

reflex: knee jerk (L3, L4) urine examination (office dipstick)
L4: FBE; ESR/CRP

motor: resisted inversion foot serum alkaline phosphatase

sensation: inner border of foot to great toe PSA in males >50 years

reflex: knee jerk Specific disease investigation

L5: Such tests include:
motor: walking on heels, resisted extension great toe peripheral arterial studies
sensation: middle three toes (dorsum) HLA-B27 antigen test for ankylosing spondylitis and reactive arthritis
reflex: nil
serum electrophoresis for multiple myeloma (paraprotein)
S1:
PSA for possible prostate cancer
sensation: little toe, most of sole
Brucella agglutination test
reflex: ankle jerk (S1, S2)
blood culture for pyogenic infection and bacterial endocarditis
Other examination bone scanning to demonstrate inflammatory or neoplastic disease and infections (e.g.
osteomyelitis) before changes are apparent on plain X-ray
The method of examining the sacroiliac and hip joints is outlined in CHAPTER 54 .
tuberculosis studies
Investigations
X-rays of shoulder and hip joint
Investigations for back pain can be classified into three broad groups: front-line screening tests;
specific disease investigations; and procedural and preprocedural tests. electromyographic (EMG) studies to screen leg pain and differentiate neurological diseases
from nerve compression syndromes
Plain X-rays of the lumbar spine are not recommended in acute non-specific low back pain (pain
<6 weeks) in the absence of ‘red flags’ as they are of limited diagnostic value and no benefits in radioisotope scanning
physical function are observed.1 Even when a red flag is present, strictly adhering to X-raying
technetium pyrophosphate scan of SIJ for ankylosing spondylitis
causes problematic false-positive results; for example, night pain is present in 44% of cases, yet
 selective anaesthetic block of facet joint under image intensification
selective anaesthetic block of medial branches of posterior primary rami and other nerve roots
Procedural and preprocedural diagnostic tests
These tests should be kept in reserve for red flag pointers to chronic disorders, especially
mechanical disorders, that remain undiagnosed and unabated, and where surgical intervention is
planned for a disc prolapse requiring removal.
Depending on availability and merit, such tests include:
CT scan
myelography or radiculography
discography
MRI
Summary of diagnostic guidelines for spinal pain
Continuous pain (day and night): think neoplasia or infection.
The big primary malignancy is multiple myeloma.
The big three metastases are from lung, breast and prostate.
The other three metastases are from thyroid, kidney/adrenal and melanoma.
Pain with standing/walking (relief with sitting) = spondylolisthesis.
Pain (and stiffness) at rest, relief with activity = inflammation.
In a young person with inflammation, think of ankylosing spondylitis.
Stiffness at rest, pain with or after activity, relief with rest = osteoarthritis.
Pain provoked by activity, relief with rest = mechanical dysfunction.
Pain in bed at early morning = inflammation, depression or malignancy/infection.
Pain in periphery of limb = discogenic → radicular or vascular → claudication or spinal canal
stenosis → claudication.
Pain in calf (ascending) with walking = vascular claudication.
Pain in buttock (descending) with walking = neurogenic claudication.
One disc lesion = one nerve root (exception is L5–S1 disc).
One nerve root = one disc (usually).
Two or more nerve roots—consider neoplasm.
The rule of thumb for the lumbar nerve root lesions is L3 from L2–3 disc, L4 from L3–4, L5
from L4–5 and S1 from L5–S1.
A large disc protrusion can cause bladder symptoms, either incontinence or retention.
A retroperitoneal bleed from anticoagulation therapy can give intense nerve root symptoms
and signs.
Back pain in children
The common mechanical disorders of the intervertebral joints can cause non-specific back pain
in children, which must always be taken seriously. Like abdominal pain and leg pain, it can be
related to psychogenic factors, so this possibility should be considered by diplomatically
evaluating problems at home, at school or with sport. It is helpful to remember that tight
hamstrings are associated with non-specific back discomfort with poor forward flexion. Page 330
Especially in children under the age of 10, it is very important to exclude organic disease.
Infections such as osteomyelitis and tuberculosis are rare possibilities, and ‘discitis’ has to be
considered. This painful condition can be idiopathic, but can also be caused by the spread of
infection from a vertebral body. It has characteristic radiological changes.
Tumours causing back pain include the benign osteoid osteoma and the malignant osteogenic
sarcoma. Osteoid osteoma is a very small tumour with a radiolucent nucleus that is sharply
demarcated from the surrounding area of sclerotic bone. Although more common in the long
bones of the leg, it can occur in the spine.
In older children and adolescents (in whom back pain is common) the organic causes of back
pain are more likely to be inflammatory, congenital or from developmental anomalies and
trauma.
A prolapsed intervertebral disc, which can occur in adolescents, can be very unusual in its
presentation. There is often marked spasm, with a stiff spine and lateral deviation, which may be
out of proportion to the relatively lower degree of pain.
Other important conditions to consider are Scheuermann disease (which largely affects thoracic
spine) and early-onset ankylosing spondylitis.
Spondylolisthesis can occur in older children, usually due to a slip of L5 or S1, because the
articular facets are congenitally absent or because of a stress fracture in the pars interarticularis.
It is necessary to request standing lateral and oblique X-rays.
Consider a lumbar stress fracture in the adolescent, which can be caused by activity involving Syndrome B (probable Uncommon Large disc protrusion,
rotation and extension of the spine such as cricket fast bowling. It has an insidious onset and surgical emergency) paralysing nerve root
requires a high index of suspicion. Anaesthesia or paraesthesia
of the leg
Back pain in the older person Foot drop
Motor weakness
Mechanical spinal dysfunction is still the most common cause of back pain in the elderly and Absence of reflexes
may represent a recurrence of earlier dysfunction. It is amazing how commonly disc prolapse
and facet joint injury can present in the aged. However, degenerative joint disease is very Syndrome C Common Posterolateral disc
common and, if advanced, can present as spinal stenosis with claudication and nerve root Distal pain with or without protrusion on nerve root
irritation due to narrowed intervertebral foraminae. paraesthesia or disc disruption
Radicular pain (sciatica)
Special problems to consider are malignant disease, degenerative spondylolisthesis, vertebral
Positive dural stretch tests
pathological fractures and occlusive vascular disease.
Syndrome D Very Disc disruption or facet
Acute back and leg pain due to vertebral dysfunction Non-specific lumbar pain common dysfunction or unknown
(unilateral, central or bilateral) (non-specific) causation
Mechanical disruption of the vertebral segment or segments is the foremost cause to consider, ± Buttock and posterior thigh
while the main serious clinical syndromes are secondary to disruption with or without prolapse pain
of the intervertebral disc, usually L4–5 or L5–S1.

TABLE 28.4 presents the general clinical features and diagnosis in acute back pain (fractures
excluded) following vertebral dysfunction: the symptoms and signs can occur singly or in
combination.

Table 28.4 Clinical features and diagnosis of vertebral dysfunction

leading to low back and leg pain10

Clinical features Frequency Diagnosis

Syndrome A (surgical Very rare Spinal cord (UMN) or
emergency) cauda equina (LMN)
Saddle anaesthesia (around compression
anus, scrotum or vagina) (FIG. 28.7 )
Distal anaesthesia
Evidence of UMN or LMN
lesion
Loss of sphincter control or
urinary retention
Progressive weakness of legs
peripherally and areflexia
(often bilateral)
 specific back pain)
This outstanding common cause of low back pain is considered to be due mainly to dysfunction
of the pain-sensitive facet joint. The precise pathophysiology is difficult to pinpoint.

Typical profile9
Age Any age—late teens to old age, usually 22–55 years
History of injury Yes, lifting or twisting
Site and radiation Unilateral lumbar (may be central),
refers over sacrum, SIJ areas,
buttocks
Type of pain Deep aching pain, episodic
Aggravation Activity, lifting, gardening, housework (vacuuming, making
beds, etc.)
Relief Rest, warmth
Associations May be stiffness, usually good health
Physical Localised tenderness—unilateral or central L4, L5 or S1 levels,
examination may be restricted flexion, extension, lateral flexion
(significant)
Diagnosis Investigation, which is usually inappropriate, invariably normal
confirmation (or false positive)

Note: Diagnosis made clinically.

Management1,8,9
Activity directed by degree of pain but normal activity encouraged from outset

Reassure that it is rarely serious and usually settles in time

Back education program

FIGURE 28.7 Cauda equina syndrome due to massive prolapsed
intervertebral disc
Fortunately, syndromes A and B are extremely rare, but, if encountered, urgent referral Page 331
to a surgeon is mandatory. Clinical features of the cauda equina syndrome are presented
in FIGURE 28.7 . Syndrome B can follow a bleed in those taking anticoagulant therapy or be
caused by a disc sequestration after inappropriate spinal manipulation.
Analgesics—paracetamol
Consider short-term oral NSAIDs (particularly if inflammatory pattern)
Exercise program and swimming (as tolerated)—conflicting evidence re efficacy
Physical therapy—mobilisation, manipulation (for persistent problems, but conflicting
evidence) (see later in this chapter)

Vertebral dysfunction with non-radicular pain (non- Current evidence for acute low back pain can be summarised as follows:4,8,10
 beneficial—advice to stay active and reassurance, NSAIDs

likely to be beneficial—analgesics and stretching (reduces period of morbidity)

lacking firm evidence—spinal mobilisation/manipulation,11 back exercises, trigger point

injections, acupuncture

For chronic low back pain (pain >12 weeks):

beneficial—back exercises, multidisciplinary treatment program

possible benefit—weight loss, analgesics, NSAIDs, trigger point injections, spinal

mobilisation/manipulation

Page 332

Radiculopathy
Radicular pain, caused by nerve root compression from a disc protrusion (most common cause),
tumour or narrowed intervertebral foramina typically produces pain in the leg related to the
dermatome and myotome innervated by that nerve root. Leg pain may occur alone without back
pain and vary considerably in intensity.

The two nerve roots that account for most of these problems are L5 and S1, and the commonest
disc lesion is L4–5, closely followed by L5–S1. A disc can be confined, extruded or
sequestrated. Most settle with time (6–12 weeks). The management is outlined at the end of this
chapter and under ‘Sciatica’ (see CHAPTER 55 ).
Spondylolisthesis
About 5% of the population have spondylolisthesis but not all are symptomatic. The pain is
caused by extreme stretching of the interspinous ligaments or of the nerve roots. The onset of
back pain in many of these people is due to concurrent disc degeneration rather than a
mechanical problem. The pain is typically aggravated by prolonged standing, walking and
exercise. The physical examination is quite diagnostic.
Physical examination (significant): stiff waddling gait, increased lumbar lordosis, flexed knee
stance, tender prominent spinous process of ‘slipped’ vertebrae, limited flexion, hamstring
tightness or spasm
Diagnosis confirmation: lateral X-ray (standing) (see FIG. 28.8 ) problem of wear and tear that may follow vertebral dysfunction, especially after severe disc
FIGURE 28.8 Spondylolisthesis: illustrating a forward shift of one vertebra
on another
Management
This instability problem can be alleviated with relief of symptoms by getting patients to follow a
strict flexion exercise program for at least 3 months. The objective is for patients to ‘splint’ their
own spine by strengthening the abdominal and spinal muscles.
Extension of the spine should be avoided, especially hyperextension. Gravity traction might help.
Recourse to lumbar corsets or surgery (for spinal fusion) should be resisted, although it is
appropriate in a few severe intractable cases.
Lumbar spondylosis
Lumbar spondylosis, also known as degenerative osteoarthritis or osteoarthrosis, is a common
disruption and degeneration.

Stiffness of the low back is the main feature of lumbar spondylosis. Although most people live
with and cope with the problem, progressive deterioration can occur, leading to subluxation of
the facet joints. Subsequent narrowing of the spinal and intervertebral foramen leads to spinal
canal stenosis (see FIG. 28.9 ).
 Basic analgesics (depending on patient response and tolerance)

NSAIDs (judicious use)

Appropriate balance between light activity and rest

Exercise program and hydrotherapy (if available)—physiotherapy supervision

Regular mobilisation therapy may help

Consider trials of electrotherapy such as TENS

Consider decompressive surgery for spinal canal stenosis (see CHAPTER 55 )

The spondyloarthritides
The seronegative spondyloarthropathies are a group of disorders characterised by involvement of
the sacroiliac joints with an ascending spondylitis and extraspinal manifestations, such as
oligoarthritis and enthesopathies (see FIG. 28.10 ; refer to CHAPTER 25 ). The pain and
stiffness that are the characteristic findings of spinal involvement are typical of inflammatory
disease: namely, worse in the morning, may occur at night and improves rather than worsens
with exercise.

FIGURE 28.9 Lumbar spondylosis with degeneration of the disc and facet
joint, leading to narrowing of the spinal canal and intervertebral foramen (spinal
canal stenosis)

Page 333

Management
 FIGURE 28.10 (a) Ankylosing spondylitis and psoriasis: main target areas on
vertebral column and girdle joints and ribs, (b) Crohn disease and ulcerative
colitis: main target areas of enteropathies. Reactive arthritis targets the lumbar
spine and sacroiliac joints only.

The main disorders in this group are ankylosing spondylitis, psoriatic arthritis, reactive arthritis
and the inflammatory bowel diseases. Hence the importance of searching for a history of
psoriasis, diarrhoea, urethral discharge, eye disorders and episodes of arthritis in other joints.

Treatment
The earlier the treatment, the better the outlook; the prognosis is usually good (see earlier in
chapter). Refer to consultant for shared care. The basic objectives of treatment are:
 prevention of spinal fusion in a poor position

relief of pain and stiffness

maintenance of optimum spinal mobility

Malignant disease
It is important to identify malignant disease and other space-occupying lesions as early as
possible because of the prognosis and the effect of a delayed diagnosis on treatment.

With respect to the neurological features, more than one nerve root may be involved and major
neurological signs may be present without severe root pain. The neurological signs will be
progressive. Page 334

If malignant disease is proved and myeloma is excluded, a search should be made for the six
main primary malignancies that metastasise to the spine (see FIG. 28.11 ). If the bone is
sclerotic, consider prostatic secondaries, some breast secondaries or Paget disease.

FIGURE 28.11 Important primary malignancies metastasising to the spine.

Note the difference between sclerotic and osteoporotic metastases; multiple
myeloma also causes osteoporotic lesions.

Non-organic back pain

Like headache, back pain is a symptom of an underlying functional, organic or psychological
disorder. Preoccupation with organic causation of symptoms may lead to serious errors in the Observation Appropriate Overreactive under scrutiny
assessment of back pain. Any vulnerable aching area of the body is subject to aggravation by Guarded Inconsistent
emotional factors.
Tenderness Localised to Often inappropriate level
Depressed people are generally less demonstrative than those with extreme anxiety and appropriate Withdraws from probing
conversion disorders and malingerers, so it is easier to mistakenly overlook the non-organic basis level finger
for their problem.
Spatial tenderness Consistent Inconsistent
Where relevant, a trial of antidepressants for a minimum of 3 weeks can be reasonable, and quite (Magnuson)
often a positive response with relief of backache eventuates.
Active movements Specific Often all movements affected
Failure to consider psychological factors in the assessment of low back pain may lead to serious movements
errors in diagnosis and management. Each instance of back pain poses a stimulating exercise in affected
differential diagnosis. A comparison of organic and non-organic features is presented in
TABLE 28.5 . Axial loading test No back pain Back pain
(usually)
SLR ‘distraction’ test Consistent Inconsistent
Table 28.5 Comparison of general clinical features of organic and non- Sensation Dermatomal Non-anatomical ‘sock’ or
organic based low back pain9 ‘stocking’
Motor Appropriate Muscle groups (e.g. leg
Organic myotome ‘collapses’)
Symptoms Non-organic disorders
disorders Reflexes Appropriate Brisk hyperactive
Presentation Appropriate Often dramatic May be
Pain Localised Bilateral/diffuse depressed
Sacrococcygeal
Page 335
Pain radiation Appropriate Inappropriate Assessment of the pain demands a full understanding of the patient. One must be aware
Buttock, Front of leg/whole leg of his or her type of work, recreation, successes and failures; and one must relate this information
specific to the degree of incapacity attributed to the back pain.
sites
Patients with psychogenic back pain, especially the very anxious, tend to overemphasise their
Time pattern Pain-free Constant, acute or chronic problem. They are usually demonstrative, the hands being used to point out various painful areas
times almost without prompting. There is diffuse tenderness even to the slightest touch and the
Paraesthesia/anaesthesia Dermatomal May be whole leg physical disability is out of proportion to the alleged symptoms. The pain distribution is often
Points with Shows with hands atypical of any dermatome and the reflexes are almost always hyperactive. It must be
finger remembered that patients with psychogenic back pain—for example, depression and conversion
disorders—do certainly experience back pain and they do not fall for the traps set for the
Response to treatment Variable Patient often refuses malingerer. A validated risk stratification tool such as the STarT Back screening tool (SBST) can
Delayed treatment be used to quantify psychosocial risk for levels of pain or disability as low, medium or high in
benefit Initial improvement (often order to guide prognosis and treatment.10
dramatic) then deterioration
(usually within 24 hours) Treatment options for back pain
Signs
General aspects of management1,8
The aim of treatment is to reduce pain, maintain function, and minimise disability and work
absenteeism and importantly the risk of chronicity.

Advice to stay active. Evidence from randomised controlled trials confirms that, in people with
acute low back pain, advice to stay active speeds symptomatic recovery, reduces chronic
disability and results in less time off work compared with bed rest or usual care.8 Encourage the
person to stay at work or return early if possible. Keep moving despite discomfort.9

The caring knowledgeable therapist. Evidence supports the positive value of education and
reassurance from a confident, supportive and knowledgeable therapist.

Patient education. Appropriate educational material leads to a clear insight into the causes and
aggravation of the back disorder plus coping strategies. This can be a component of cognitive
behaviour therapy (if considered appropriate). Page 336

Heat. Thermography is beneficial. Heat in the form of heat bags, hot flannels and similar
methods can be of benefit, especially in the first 2–4 weeks of acute low back pain. Small trials
using cold applications were equivocal.12 Evidence shows that heat is more effective than
placebo for pain relief. 8

Exercises. An early graduated exercise program as soon as the acute phase settles has reasonable
evidence supporting it in primary care.13 All forms of exercise (extension, flexion and isometric)
appear to be equally effective (see FIG. 28.12 ). Supervised swimming is an excellent activity
for back disorders. Physiotherapist supervision is optimal.

FIGURE 28.12 Examples of exercises for low back pain: (a) rotation exercise,
(b) flexion exercise

Studies support the use of exercises for chronic back pain rather than acute pain.4

Pharmacological agents
Basic analgesics14
Evidence indicates that paracetamol is ineffective for non-specific low back pain.15 However, Injections of local anaesthetic with or without corticosteroids are sometimes used for chronic
individual patients may and do experience a benefit and, because of that and its safety profile, a pain, especially for nerve root pain. The most recent Cochrane review indicates that
trial of paracetamol may be considered if NSAIDs are contraindicated or not effective.8 corticosteroids don’t differ from placebo injections, and local anaesthetic agents have not been
studied alongside placebo.18 If chosen, a reasonable option is the caudal (trans-sacral) epidural
NSAIDs14 injection for persistent sciatica using 15 mL of half-strength local anaesthetic only (e.g. 0.25%
bupivacaine) (see FIG. 28.13 ). Page 337
NSAIDs fare somewhat better than paracetamol in systematic reviews, showing some
improvements in pain and disability compared to placebo.16 They may be particularly useful
where there is clinical evidence of inflammation, especially with the spondyloarthropathies,
severe spondylosis and in acute radicular pain, to counter irritation on the nerve root. The various
different NSAIDs (including COX-2 inhibitors) appear to have roughly equal efficacy.

Muscle relaxants
Muscle relaxants (benzodiazepines, e.g. diazepam, or baclofen) are effective in the management
of non‐specific low back pain.17 However, the common adverse effects (sedation, neurological,
addiction) require that they be used with caution and for short periods only.

Opioids8,14
The role of opioids is limited because any pain-control benefits are outweighed by the potential
risks. They are not recommended but may be considered when paracetamol and NSAIDs are not FIGURE 28.13 Caudal epidural injection: the needle should lie free in the
recommended or are unable to provide pain control. space and be well clear of the dural sac

Injection techniques Physical therapy

Trigger point injection Active exercises are the best form of physical therapy (see FIG.28.12a, b ).

There is limited evidence (e.g. a trial injecting the most painful part of the medial iliac crest) that Passive spinal stretching at the end range is a safe, effective method (see FIG. 28.14 ). Spinal
local anaesthetic injections may be effective for relatively isolated points using 5–8 mL of local mobilisation is a gentle, repetitive, rhythmic movement within the range of movement of the
anaesthetic.18 joint. It is safe and modestly effective, and a variation of stretching.

Chymopapain
This enzyme has been advocated for the treatment of acute nuclear herniation that is still intact.
The indications are similar for surgical discectomy. However, studies show that although it is
more effective than placebo, it is less effective than surgical discectomy.19

Facet joint injection

Corticosteroid injection under radio-image intensification is widely used in some clinics. The
procedure is delicate and expertise is required. Best evidence to date does not support the use of
these injections.18

Epidural injections
 FIGURE 28.15 Lumbar spinal stretching manipulation: illustration of the
specific technique for the L4–5 level with arrows indicating the direction of
applied force
Source: Reproduced with permission from C Kenna and J Murtagh. Back Pain and Spinal Manipulation. Sydney: Butterworths, 1989

Other treatments
Because back pain is so common, so frustrating and seemingly so resistant to most treatments
except the passage of time, there is a vast array of suggested therapies that are not supported by
independent evidence. Few have been ‘proven’ not to work (that proof takes enormous effort)
but the GP who advocates them should be aware they are relying on anecdote more than science.
Where benefits are marginal or non-existent, it is important to preference safer, cheaper
interventions over those that require significant time, money or risk.

FIGURE 28.14 Lumbosacral spinal stretching technique (for right-sided pain): Hydrotherapy
a traditional technique. Illustration shows direction of line of force.
Traction (little or no impact)21
Source: Reproduced with permission from C Kenna and J Murtagh. Back Pain and Spinal Manipulation. Sydney: Butterworths, 1989

TENS
Spinal manipulation is a high-velocity thrust at the end range of the joint. It seems to produce a
faster response, but requires greater skill. Evidence is conflicting, but it may possibly be effective Therapeutic ultrasound
for uncomplicated dysfunctional low back pain (without radicular pain), especially acute pain
(see FIG. 28.15 ).4,8 In chronic low back pain, regular spinal manipulation results in a slight Facet joint injection
improvement at one month that disappears by six months.20 Adverse effects are uncommon, but
can be serious. Posterior nerve root (medial branch) blocks with or without denervation (by cryotherapy or
radiofrequency)

Percutaneous vertebroplasty (injection of bone cement into fractured vertebra of osteoporosis)

 Deep friction massage (in conjunction with mobilisation and manipulation) Back education program

Acupuncture (acute: no evidence, chronic: evidence of short-term relief)22
Biofeedback
Gravitational methods (home therapy)
Lumbar supports (don’t prevent pain; conflicting studies on relieving
Management guidelines for lumbosacral
disorders (summary)
Encouragement of normal daily activities, including work, and taking responsibility
for own management
Optional non-opioid analgesics (NSAIDs)
Page 338
Prescribe exercises (provided non-aggravating)
pain)23
Physical therapy: stretching of affected segment, consider spinal mobilisation or
manipulation (if no contraindication)8,14,25
Review in about 5 days (probably best time for consideration of physical therapy)

No investigation needed initially

The management of ‘mechanical’ back pain depends on the cause. Since most of the problems
are mechanical and there is a tendency to natural resolution, conservative management is quite
appropriate. The rule is: ‘if patients with uncomplicated back pain receive no treatment, one-third
will get better within 1 week and by 3 weeks almost all the rest of the other two-thirds are Sciatica with or without low back pain
better’.24,25 Practitioners should have a clear-cut management plan with a firm, precise,
reassuring and conservative clinical approach. Sciatica is a more complex and protracted problem to treat, but most cases will gradually settle
within 12 weeks (refer to CHAPTER 55 ). Conservative management is usually recommended in
The problems can be categorised into general conditions for which the summarised treatment the first 6–8 weeks.
protocols are outlined.
Acute8
Acute pain = pain less than 6 weeks
Explanation and reassurance
Subacute pain = pain 6–12 weeks
Back education program
Chronic pain = pain greater than 12 weeks
Resume normal activities as soon as possible
Acute low back pain 8
Regular non-opioid analgesics with review as the patient mobilises
The common problem of low back pain caused by facet joint dysfunction and/or limited disc
NSAIDs for 10–14 days, then cease and review (low-quality evidence for mild improvement,
disruption usually responds well to the following supportive therapy (see box). The typical
but with side effects)28
patient is aged 20–55 years, is well and has no radiation of pain below the knee.25,26
If severe pain unrelieved, add an opioid that works well for the patient, such as tapentadol SR
Most of these patients can expect to be relatively pain-free in 14 days and can return to work
50 mg (o) bd as necessary, for short-term use27
earlier than that (some may not miss work and this should be encouraged).
Walking and swimming
Management of non-specific acute low back pain
Weekly or 2-weekly follow-up
(summary)27
Consider: a course of corticosteroids for very severe pain,8 e.g. prednisolone 50 mg for 5 days,
Explanation and reassurance about no evidence of serious damage or disease; then 25 mg for 5 days, gradually tapering to 3 weeks in total.
cognitive behaviour therapy
or
 30 mg daily mane for 3 weeks, tapering to 0 over next 2 weeks (efficacy not clearly
established) General guidelines for surgical intervention for radiculopathy
Chronic Absolute

Reassurance that problem will subside (assuming no severe neurological defects) Bladder/bowel control disturbance; perineal sensory change

Consider epidural anaesthesia (if slow response) Progressive motor disturbance (e.g. significant foot drop, weakness in quadriceps)

Explore depressive symptoms: consider amitriptyline 10–25 mg (o) nocte increasing to Relative
maximum 75–100 mg or duloxetine
Severe prolonged pain or disabling pain
Note: An important controlled prospective study comparing surgical and conservative treatment
in patients with sciatica over 10 years showed that there was significant relief of sciatica in the Failure of conservative treatment with persistent pain (problem of permanent
surgical group for 1–2 years but not beyond that time. At 10 years, both groups had the same nerve damage)
outcome, including neurological deficits.29 Surgery has a limited role.
If all four of the following criteria are met:8
Sacroiliac dysfunction leg pain equal to or worse than back pain
See CHAPTER 55 . positive straight leg raise test

Chronic back pain no response to conservative therapy after 4–6 weeks

The basic management of the patient with uncomplicated chronic back pain should consider the imaging shows a lesion corresponding to symptoms
following options: Page 339

back education program and ongoing support

encouragement of normal activity
exercise program
mindfulness-based stress reduction (evidence based)
paracetamol (e.g. 500 or 665 mg (o) 8 hourly) although not tested in any RCT
NSAIDs for 14 days (especially if inflammation, i.e. pain at rest—relieved by activity and
poor response to non-pharmacological treatment) and review
Prevention of further back pain
Patients should be informed that an ongoing back care program should give them an excellent
outlook. Prevention includes:
education about back care, including a good layperson’s reference
golden rules to live by: how to lift, sit, bend, play sport and so on
an exercise program: a tailor-made program for the patient

antidepressants (but only if depressed)30 When to refer

trial of mobilisation or manipulation (at least three treatments)—if no contraindications19,31
(low-quality evidence)
consider a multidisciplinary rehabilitation team approach or a ‘back school’ (but evidence
again suggests just trivial improvement)32
Urgent referral
Myelopathy, especially acute cauda equina compression syndrome
Severe radiculopathy with progressive neurologic deficit
 Spinal fractures and S1 root lesions should still be regarded with suspicion (e.g. consider
malignancy).
Other referrals A large central disc protrusion can cause bladder symptoms, either incontinence
or retention.
Recalcitrant spinal canal stenosis
Low back pain of very sudden onset with localised spasm and protective lateral
Neoplasia or infection
deviation may indicate a facet joint syndrome.
Undiagnosed back pain
The T12–L1 and L1–2 discs are the groin pain discs.
Paget disease
The L4–5 disc is the back pain disc.
Continuing pain of 3 months’ duration without a clearly definable cause
The L5–S1 disc is the leg pain disc.

Practice tips Severe limitation of SLR (especially to less than 30°) indicates lumbar disc
prolapse.
Back pain that is related to posture, aggravated by movement and sitting, and A preventive program for dysfunctional back pain based on back care awareness
relieved by lying down is due to vertebral dysfunction, especially a disc disruption. and exercises is helpful.
The pain from most disc lesions is generally relieved by rest. Remember that most back problems resolve within a few weeks, so avoid
overtreatment.
Plain X-rays are of limited use, especially in younger patients, and may appear
normal in disc prolapse.

Remember the possibility of depression as a cause of back pain; if suspected, Page 340

consider a trial of antidepressants. Patient education resources

If back pain persists, possibly worse during bed rest at night, consider malignant
disease, depressive illness or other systemic diseases. Hand-out sheets from Murtagh’s Patient Education 8th edition:

Pain that is worse on standing and walking, but relieved by sitting, is probably Backache
caused by spondylolisthesis.
Exercises for your lower back
If pain and stiffness is present on waking and lasts longer than 30 minutes upon
activity, consider inflammation. Sciatica

Avoid using strong analgesics (especially opioids) in any chronic non-malignant Spondylosis
pain state.

Bilateral back pain is more typical of systemic diseases, while unilateral pain
References
typifies mechanical causes.
1 Australian Acute Musculoskeletal Pain Guidelines Group. Evidence-Based Management of
Back pain at rest and morning stiffness in a young person demand careful Acute Musculoskeletal Pain: A Guide for Clinicians. Bowen Hills: Australian Academic
investigation: consider inflammation such as ankylosing spondylitis and reactive Press, 2004.
arthritis.
2 Cooke G et al. Common general practice presentations and publication frequency. Aust
A disc lesion of L5–S1 can involve both L5 and S1 roots. However, combined L5 Fam Physician, 2013; 42(1): 65–8.
 3 Sloane P, Slatt M, Baker R. Essentials of Family Medicine. Baltimore: Williams & 18 Staal JB et al. Injection therapy for subacute and chronic low‐back pain. Cochrane
Wilkins, 1988: 228–35. Database of Syst Rev, 2008; Issue 3: CD001824.

4 Barton S, ed. Clinical Evidence. London: BMJ Publishing Group, 2001: 772–87. 19 Gibson JNA et al. Surgery for lumbar disc prolapse. Cochrane Database Syst Rev, 2002;
Issue 2: Art No. CD001350.
5 Aktas I, Akgun K. Thoracolumbar junction syndrome. Bogazici Tip Dergisi, 2014; (1):
129–31. (For further reference, see Maigne R. Manipulation of the spine. In: Basmajian 20 Rubinstein SM et al. Benefits and harms of spinal manipulative therapy for the treatment
JV, ed. Manipulation, Traction and Massage. Paris: RML, 1986: 71–96.) of chronic low back pain: systematic review and meta-analysis of randomised controlled
trials. BMJ, 2019; 364: l689.
6 Wheeler LP, Karran EL, Harvie DS. Low back pain: can we mitigate the inadvertant
psycho-behavioural harms of spinal imaging? Aust J Gen Pract, September 2018; 47(9). 21 Wegner I et al. Traction for low‐back pain with or without sciatica. Cochrane Database of
Available from: https://www1.racgp.org.au/ajgp/2018/september/low-back-pain, accessed Syst Rev, 2013; Issue 8: CD003010.
March 2021.
22 Furlan AD et al. Acupuncture and dry‐needling for low back pain. Cochrane Database of
7 Bardin LP, King P, Maher CG. Diagnostic triage for low back pain: a practical approach Syst Rev, 2005; Issue 1: CD001351.
for primary care. Med J Aust, 2017; 206(6): 268–73.
23 van Duijvenbode I et al. Lumbar supports for prevention and treatment of low back pain.
8 Low back pain [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne: Cochrane Database of Syst Rev, 2008; Issue 2: CD001823.
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed September 2019.
24 Royal College of General Practitioners et al. Clinical Guidelines for the Management of
9 Kamper SJ, Maher CG, Buchbinder R. Non-specific low back pain: manage initially with Acute Low Back Pain. London: RCGP, 1996.
reassurance, activity and analgesia. Modern Medicine, June 2013: 19–35.
25 Kuritzky L. Low back pain. Family Practice, Audio-Digest California Medical
10 Hill JC et al. Comparison of stratified primary care management for low back pain with Association: 1996; 44: 14.
current best practice (STarT Back): a randomised controlled trial. Lancet, 2011; 378:
1560–71. 26 Deyo RA. Acute low back pain: a new paradigm for management. Br Med J, 1996; 313:
1343–4.
11 Rubinstein SM et al. Spinal manipulative therapy for acute low‐back pain. Cochrane
Database of Syst Rev, 2012; Issue 9: CD008880. 27 Qaseem A et al. Noninvasive treatments for acute, subacute, and chronic low back pain: a
clinical practice guideline from the American College of Physicians. Ann Intern Med,
12 French SD et al. Superficial heat or cold for low back pain. Cochrane Database of Syst 2017; 166(7): 514–30.
Rev, 2006; Issue 1: CD004750.
28 Rasmussen‐Barr E et al. Non‐steroidal anti‐inflammatory drugs for sciatica. Cochrane
13 Hayden J et al. Exercise therapy for treatment of non‐specific low back pain. Cochrane Database of Syst Rev, 2016; Issue 10: CD012382.
Database of Syst Rev, 2005; Issue 3: CD000335.
29 Weber H. Lumbar disc herniation: a controlled prospective study with 10 years
14 Chou R et al. Non-invasive treatments for low back pain. Agency for Healthcare Research observation of patients with sciatica. Spine, 1983; 8: 131–40.
and Quality 2016. Available from: www.effectivehealthcare.ahrq.gov, accessed 23 May
2018. 30 Urquhart DM et al. Antidepressants for non‐specific low back pain. Cochrane Database of
Syst Rev, 2008; Issue 1: CD001703.
15 Saragiotto BT et al. Paracetamol for low back pain. Cochrane Database of Syst Rev, 2016;
Issue 6: CD012230. 31 Blomberg S, Svardsudd K, Mildenberger F. A controlled, multicentre trial of manual
therapy in low back pain. Scand J Prim Health Care, 1992; 10: 170–8.
16 van der Gaag WH et al. Non‐steroidal anti‐inflammatory drugs for acute low back pain.
Cochrane Database of Syst Rev, 2020; Issue 4: CD013581. 32 Parreira P et al. Back schools for chronic non‐specific low back pain. Cochrane Database
of Syst Rev, 2017; Issue 8: CD011674.
17 van Tulder MW et al. Muscle relaxants for non‐specific low back pain. Cochrane
Database of Syst Rev, 2003; Issue 2: CD004252.
 Page 341

29 Bruising and bleeding

My pa is one mask of brooses both blue and green.

CHARLES DICKENS (1812–1870), NICHOLAS NICKLEBY

Many people present with the complaint that they bruise easily but only a minority turn out to
have an underlying blood disorder. Purpura is bleeding into the skin or mucous membranes,
appearing as multiple small haemorrhages that do not blanch on pressure. Smaller purpuric
lesions that are 2 mm or less in diameter (pinhead size) are termed petechiae, while larger
purpuric lesions are called ecchymoses (see FIG. 29.1 ).

FIGURE 29.1 Purpuric rash (petechiae and ecchymoses)

Bruises are large areas of bleeding that result from subcutaneous bleeding. If bruising is
abnormal and out of proportion to the offending trauma, then a disturbance of haemostasis is
suggested (see FIG. 29.2 ). The three spontaneous, intrinsically linked pathways that arrest
bleeding following injury are vasoconstriction, formation of a platelet plug and activation of
coagulation factors.
 Differential diagnosis
‘Palpable purpura’ due to an underlying systemic vasculitis is an important differential problem.
The petechiae are raised so finger palpation is important. The cause is an underlying vasculitis
affecting small vessels (e.g. polyarteritis nodosa).

The decision as to which individuals require investigation is difficult and depends on whether the
haemostatic defect is due to local or systemic pathology.1 The ability to identify a bleeding
disorder is important because of implications for surgery, pregnancy, medication and genetic
counselling. Page 342

Key facts and checkpoints

Purpura = petechiae + ecchymoses.

Abnormal bleeding is basically the result of disorders of (1) the platelet, (2) the
coagulation mechanism or (3) the blood vessel.

There is no substitute for a good history in the assessment of bleeding disorders.

The first step is an assessment of personal and family histories.

When someone describes ‘bruising easily’ it is important to exclude

thrombocytopenia due to bone marrow disease and clotting factor deficiencies
such as haemophilia.

The commonest cause of an acquired bleeding disorder is drug therapy (e.g.

aspirin, NSAIDs, cytotoxics and oral anticoagulants).

Bleeding secondary to platelet defects is usually spontaneous, associated with a

petechial rash and occurs immediately after trauma or a cut wound.1 The
bleeding is usually mucosal (e.g. bleeding from gingiva, menorrhagia, epistaxis
and petechiae).

Bleeding caused by coagulation factor deficiency is usually traumatic and

delayed (e.g. haemorrhage occurring 24 hours after a dental extraction in
haemophilia).

Laboratory assessment should be guided by the clinical impression.

FIGURE 29.2 Severe bleeding in a woman with diabetes and systemic
fibrinolysis. Note the bleeding following insulin injections into the abdominal
wall and an injection into the shoulder joint.
Photo courtesy Hatem Salem
The routine screening tests for the investigation of a true bleeding disorder can
occasionally be normal, even despite a severe haemorrhagic state. Second-line
investigations will need to be undertaken.
 Post-transfusion purpura
Causes of clinical disorders Non-immune
Disseminated intravascular coagulation
Bleeding disorders can result from:
Myeloproliferative disorders
coagulation deficiencies (reduction or inhibition of circulatory coagulation factors) Kidney failure/uraemia
platelet abnormalities: of platelet number or function Bone marrow replacement (e.g. leukaemia) or failure
vascular defects: of vascular structure or endothelium
Coagulation disorders
Bleeding disorders can also be divided into impaired primary or secondary haemostasis. Primary
haemostatic disorders which are the most common include von Willebrand disease (vWD), Inherited
thrombocytopenia and platelet function disorders. Secondary causes include disorders of fibrin Haemophilia A
formation and the haemophilias.2 Haemophilia B
von Willebrand disease (types 1, 2 and 3)
A list of differential diagnoses of systemic bleeding disorders is presented in TABLE 29.1 .1
Acquired
Disseminated intravascular coagulation (DIC)
Table 29.1 Classification of bleeding disorders1 Vitamin K deficiency
Oral anticoagulation therapy or overdose
Vascular disorders Acquired haemophilia
Inherited Liver disease
Hereditary haemorrhagic telangiectasia
Connective tissue disease, e.g. Marfan syndrome Page 343

Easy bruising syndrome The clinical approach

Acquired
Senile purpura Differentiation of coagulation factor deficiencies and platelet disorders as the cause of a bleeding
problem can usually be determined by a careful evaluation of the history and physical
Infection, e.g. dengue, meningococcal
examination.
Henoch-Schonlein purpura
Corticosteroid purpura
History
Vitamin C deficiency (scurvy)
Painful bruising syndrome Factors that suggest the presence of a systemic bleeding defect include:
Platelet disorders spontaneous haemorrhage
Inherited
severe or recurrent haemorrhagic episodes, e.g. epistaxis
Fanconi syndrome
Glanzmann disease bleeding from multiple sites, e.g. mouth, bladder, bowel
Acquired (immune) bleeding out of proportion to the degree of trauma
Idiopathic thrombocytopenic purpura
Aplastic anaemia cutaneous bleeding
Drug induced thrombocytopenia, e.g. heparin gastrointestinal bleeding
Thrombotic thrombocytopenia purpura
 postpartum haemorrhage Myelofibrosis
Severe infections:
bleeding from tooth extraction/oral cavity
septicaemia
menstrual history, e.g. menorrhagia meningococcal infection
measles
muscle haematomas or haemarthrosis
typhoid
If a bleeding diathesis is suspected it is essential to determine whether local pathology is dengue/chikungunya
contributing to the blood loss (e.g. postoperative bleeding, postpartum bleeding, gastrointestinal HIV and other blood-borne viruses (e.g. Hepatitis C)
haemorrhage). Disseminated intravascular coagulation
Thrombotic thrombocytopenic purpura
Diagnostic tips
Fat embolism
Platelet abnormalities present as early bleeding following trauma.
Pitfalls (often missed)
Coagulation factor deficiencies present with delayed bleeding after initial haemostasis is Haemophilia A, B, vWD
achieved by normal platelets. Post-transfusion purpura
A normal response to previous coagulation stresses (e.g. dental extraction, circumcision or Trauma (e.g. domestic violence, child abuse)
pregnancy) indicates an acquired problem. Rarities:
hereditary telangiectasia (Osler–Weber–Rendu syndrome)
If acquired, look for evidence of MILD: Malignancy, Infection, Liver disease, Drugs.
Ehlers–Danlos syndrome
A diagnostic strategy is outlined in TABLE 29.2 . scurvy
Fanconi syndrome
Table 29.2 Purpura: diagnostic strategy model Seven masquerades checklist
Drugs: many examples (see Medication record )
Probability diagnosis Anaemia:
Simple purpura (easy bruising syndrome) aplastic anaemia
Senile purpura (common on limbs of older people after minimal trauma) Psychogenic factors
Corticosteroid-induced purpura Factitial purpura
Immune thrombocytopenic purpura
Henoch–Schönlein purpura
Liver disease, especially alcoholic cirrhosis Family history
Increased intravascular pressure, e.g. coughing, vomiting
A positive family history can be a positive pointer to the diagnosis:
Serious disorders not to be missed
sex-linked recessive pattern: haemophilia A or B
Malignant disease:
leukaemia autosomal dominant pattern: vWD, dysfibrinogenaemias
myeloma
Myelodysplasia autosomal recessive pattern: deficiency of coagulation factors V, VII and X
Aplastic anaemia Enquire whether the person has noticed blood in the urine or stools and whether menorrhagia is
present in women. A checklist for a bleeding history is presented in TABLE 29.3 . The actual Medication record
size and frequency of the bruises should be recorded where possible and if none are present at
the time of the consultation the patient should return if any bruises reappear. Page 344 It is mandatory to obtain a complete drug history. Examples of drugs and their responses are:

vascular purpura:
Table 29.3 Checklist for a bleeding history
prednisolone/other steroids

Skin bruising Tonsillectomy thrombocytopenia:

Epistaxis Other operations
cytotoxic drugs
Injury Childbirth
carbamazepine
Domestic violence Haematuria
Menorrhagia Rectal bleeding gold
Haemarthrosis Drugs sodium valproate
Tooth extraction Family history
heparin
Unusual haematomas Comorbidities (e.g. liver disease, kidney disease)
ranitidine

Key questions sulfonamides

quinine, quinidine
How long has the problem been apparent to you?
thiazide diuretics
Do you remember any bumps or falls that might have caused the bruising?
penicillins, vancomycin
What sort of injuries cause you to bruise easily?
chloramphenicol
Have you noticed bleeding from other areas such as your nose or gums?
functional platelet abnormalities:
Have you noticed any rashes or blood blisters in your mouth?
aspirin and other antiplatelet drugs
Has anyone in your family had a history of bruising or bleeding?
NSAIDs
What is your general health like?
coagulation factor deficiency:
Do you have any tiredness, weight loss, fever or night sweats?
warfarin
Did you notice a viral illness or sore throat beforehand?
direct oral anticoagulants (e.g. dabigatran, rivaroxaban)
How much alcohol do you drink?

What happened in the past when you had a tooth extracted? Examination
Have you ever had painful swelling in your joints? Careful examination of the skin is important. Note the nature of the bleeding and the distribution
of any rash, which is characteristic in Henoch–Schönlein purpura. Senile purpura in the elderly is
Note: A validated bleeding assessment tool is a useful guide to the diagnosis of vWD. usually seen over the dorsum of the hands, extensor surface of the forearms and the shins.
Purpura on the legs indicates platelet disorders, meningococcal septicaemia and A summary of appropriate tests is presented in TABLE 29.4 and of blood changes for some
paraproteinaemias; on the fingers and toes indicates vasculitis. coagulation factor deficiencies in TABLE 29.5 .

Note the lips and oral mucosa for evidence of hereditary telangiectasia. Blood-filled vesicles of
the oral mucosa (wet purpura) is a strong risk factor for intracranial haemorrhage in immune Table 29.4 Laboratory investigation checklist for the easy
thrombocytopenic purpura and requires urgent intervention. Gum hypertrophy occurs in bruiser
monocytic leukaemia. Search for evidence of malignancy, such as sternal tenderness,
lymphadenopathy and hepatosplenomegaly. Examine the ocular fundi for evidence of retinal
haemorrhages. Urinalysis, searching for blood (microscopic or macroscopic), is important. Full blood count
Platelet count
Investigations Prothrombin time (PT) and international normalised ratio (INR)
Thrombin time (TT)
The initial choice of investigations includes a full blood count, blood film and basic coagulation Activated partial thromboplastin time (aPTT)
studies. Basic coagulation studies include prothrombin time (PT), international normalised ratio
(INR) and activated partial thromboplastin time (aPTT).

Further tests if coagulation defect suspected:

Table 29.5 Blood changes for specific coagulation
fibrinogen level factor disorders
thrombin time (TT)
Haemophilia A vWD Vitamin K deficiency
If platelet pathology suspected: PT Normal Normal ↑
platelet count and blood film aPTT ↑ ↑ ↑
TT Normal Normal Normal
platelet function analyser (PFA-100)

If inherited disorders suspected:

factor VIII
vW factor activity
vW factor antigen
The full blood examination and blood film is useful in pinpointing the aetiology. Platelet
morphology gives a diagnostic guide to inherited platelet disorders. Other sophisticated tests,
such as von Willebrand screening and platelet aggregation (e.g. PFA-100), can be advised by the
consulting haematologist. One of considerable value is the bone marrow examination, which is
useful to exclude the secondary causes of thrombocytopenia, such as leukaemia, other marrow
infiltrations and aplastic anaemia.
Other tests to consider: ESR/CRP, blood group, autoimmune screening, kidney Page 345
function tests, LFTs, serology for blood-borne infections, ferritin, plasma
electrophoresis, skin biopsy. Be cautious of pseudo-thrombocytopenia due to laboratory error or
platelet clumping—exclude on a blood film and consider a repeat collection.
Abnormal bleeding in children
Abnormal bleeding in children is not uncommon and once again the clinical history, particularly
the past and family history, provides the most valuable information. It is important to keep non-
accidental injury in mind in the child presenting with ‘easy bruising’. However, it is appropriate
to exclude a bleeding disorder, especially a platelet disorder. Vigorous coughing or vomiting in a
child can cause petechiae on or around the eyelids.
Coagulation disorders, including haemophilia and vWD, are usually suspected on clinical
grounds because of widespread bruising or because of prolonged bleeding following procedures
such as circumcision and tonsillectomy.
A common condition is haemorrhagic disease of the newborn, which is a self-limiting disease
usually presenting on the second or third day of life because of a deficiency of coagulation
factors dependent on vitamin K. The routine use of prophylactic vitamin K in the newborn infant
has virtually eliminated this problem.
Idiopathic (immune) thrombocytopenic purpura (ITP) is the commonest of the primary platelet
disorders in children. Both acute and chronic forms have an immunological basis. The diagnosis The bleeding time, coagulation time and platelet counts are normal. The prognosis is good; most
is based on the peripheral blood film and platelet count. The platelet count is commonly below recover fully in a few months.
50 000/mm3 (50 × 109/L). Spontaneous remission within 4 to 6 weeks occurs with acute ITP in
childhood.3 Clinical features
The commonest vascular defects in childhood are: All ages, mainly in children 2–8 years

anaphylactoid (Henoch–Schönlein) purpura Rash, mainly on buttocks and legs (see FIG. 29.4 )5

infective states Rash can occur on hands, arms and trunk

nutritional deficiency (usually inadequate dietary vitamin C) Arthritis (in two-thirds): mainly ankles and knees

Henoch–Schönlein purpura4 Abdominal pain—colicky (vasculitis of GIT)

Haematuria (in 90%): reflects nephritis

HSP, which is a type of IgA vasculitis, is the commonest vasculitis of children. It affects the
small vessels, producing a leucocytoclastic vasculitis with a classic triad of non-
thrombocytopenic purpura, large joint arthritis and abdominal pain. It is diagnosed clinically by
the characteristic distribution of the rash (palpable purpura) over the lower limbs, extending onto
the buttocks (see FIG. 29.3 ), but it can also involve the upper limbs, trunk and even the face.

FIGURE 29.3 Henoch−Schönlein purpura in a 5-year-old boy showing the

typical distribution of the rash on the lower limbs Page 346

The onset of HSP typically follows an upper respiratory tract infection including a group A
streptococcal tonsillopharyngitis.
FIGURE 29.4 Henoch–Schönlein purpura: typical distribution
Associations The features of vascular disorders are:

Kidney involvement—deposition of IgA immune complex (a serious complication) easy bruising and bleeding into skin

Melaena ± mucous membrane bleeding

Intussusception investigations normal

Scrotal involvement Abnormal bleeding in older people

Investigations In older adults, the outstanding causes are senile purpura and purpura due to steroids.6 The cause
in both instances is atrophy of the vascular supporting tissue.
FBE (if abnormal platelets or white cells, consider alternative diagnosis)

Urine: protein and blood; spun specimen, micro for casts Simple purpura (easy bruising syndrome)
Management This is a benign disorder occurring in otherwise healthy women usually in their 20s or 30s. The
feature is bruising on the arms, leg and trunk with minor trauma. The woman may complain of
Largely symptomatic—analgesics heavy periods. However, major challenges to the haemostatic mechanism, such as dental
extraction, childbirth and surgery, have not been complicated by excessive blood loss.
No specific therapy

Short course of steroids for abdominal pain (if intussusception excluded)

Factitial purpura
Unexplained bruising or bleeding may represent self-inflicted abuse or abuse by others. In self-
If haematuria: follow-up urine microscopy and kidney function especially if no resolution (in
inflicted abuse, the bruising is commonly on the legs or areas within easy reach of the patient.
approximately 5%)

DxT arthralgia + purpuric rash ± abdominal pain → Henoch–Schönlein Platelet disorders

purpura
The features are:

petechiae ± ecchymoses
Practice tip
Beware of CKD in HSP. bleeding from mucous membranes

platelet counts <50 000/mm3 (50 × 109/L): normal reference range 150–400 × 109/L
Page 347
Immune (idiopathic) thrombocytopenic purpura
Infective states
The purpura associated with severe infections, such as meningococcaemia and other
Clinical features6
septicaemias, is due primarily to a severe angiitis. Disseminated intravascular coagulation Acute onset in children
usually follows.3
Easy bruising and petechiae
Vascular, platelet and coagulative disorders Epistaxis, bleeding gums and menorrhagia common
 No systemic illness Thrombotic thrombocytopenic purpura
Splenomegaly rare
This is an uncommon life-threatening syndrome of haemolytic anaemia, thrombocytopenia and
extremely high LDH. Clinical features include fever (non-infectious) and neurologic and kidney
Isolated thrombocytopenia: platelets may be <20 000/mm3
abnormalities. The defect is in the absence of a specific protease in the plasma.
Other blood cells normal
Page 348

Otherwise normal physical examination Coagulation disorders

Normal bone marrow with normal or increased megakaryocytes (acute leukaemia and aplastic
anaemia should be excluded) The features are:

ecchymoses
DxT bruising + oral bleeding + epistaxis → ITP
haemarthrosis and muscle haematomas

usually traumatic and delayed

The two distinct types caused by immune destruction of the platelets are:
acute thrombocytopenia of childhood—usually in children, usually postviral
chronic ITP—autoimmune disorder, usually in adult women; all cases should be referred to a
specialist unit
The inherited disorders such as haemophilia A and B are uncommon and involve deficiency of
one factor only. The acquired disorders, such as disseminated intravascular coagulation (DIC),
occur more commonly and affect several anticoagulation factors (see TABLE 29.6 ). Antibodies
may also develop against specific clotting factors.

Acute thrombocytopenia of childhood Table 29.6 International nomenclature of clotting

factors
This is caused by a reaction to a viral infection resulting in the production of cross-reacting
antibodies against platelets.
Factor Common synonyms
There is an early risk of spontaneous haemorrhage, so refer/admit to hospital, especially if the I Fibrinogen*
platelet count is <30 × 109/L or there is active bleeding.
II Prothrombin*
The prognosis is good, invariably self-limiting—90% resolve in 6 months. It may recur with III No longer used
further viral infections. The rest pass into chronic ITP.
IV Calcium
Bleeding is treated with immunoglobulin IV or steroids (prednisolone or dexamethasone). V Proaccelerin
VI No longer used
Chronic idiopathic (immune) thrombocytopenic
VII Proconvertin (tissue factor)
purpura VIII Antihaemophilic factor A
Chronic ITP is a relapsing illness that rarely undergoes spontaneous remission and may require Antihaemophilic globulin
treatment with steroids, intravenous immunoglobulin or biological agents, e.g. rituximab. Ask
IX Antihaemophilic factor B (Christmas factor)
about drug history. Some require splenectomy, but this operation is avoided where possible,
especially in young children, because of the subsequent risk of severe infection, particularly with X Stuart–Prower factor
Streptococcus pneumoniae.6 (Refer later in this chapter.) XI Plasma thromboplastin antecedent
XII Hageman factor, contact factor
 XIII Fibrin stabilising factor No specific treatment

Avoid aspirin, NSAIDs, IM injections

Inherited coagulation disorders Be cautious of surgical and dental procedures

A list of the inherited bleeding disorders is included in TABLE 29.1 . The better-known Preparations that help include desmopressin acetate (DDAVP), factor VIII concentrates and
disorders are vWD, haemophilia A and haemophilia B (Christmas disease). tranexamic acid (especially for minor procedures)

von Willebrand disease7 Haemophilia A

This is the most common disorder of haemostasis (incidence 1% of population) and is usually a Clinical features
mild problem with an excellent prognosis.7 There are multiple subtypes—type I, the mildest,
accounts for about 75%. Spontaneous haemarthroses, especially knees, ankles and elbows, are almost pathognomonic

Clinical features X-linked recessive pattern of inheritance

Autosomal dominant inheritance (common types) Invariably only males affected (1 in 5000)

Equal sex incidence Females theoretically affected if haemophiliac father and carrier mother

Classically presents with mucocutaneous bleeding The human factor gene has long been identified

Severity levels:
Prolonged bleeding time

Bleeding tendency exacerbated by aspirin severe—bleed spontaneously

Platelets normal (common types) moderate—bleed with mild trauma or surgery

mild—bleed after major trauma or surgery

Defective platelet adhesion at site of trauma combined with factor VIII deficiency7
Deficiency of factor VIII
aPTT prolonged
aPTT prolonged
Positive vW factor antigen (low)
Normal prothrombin time and fibrinogen
vW factor ristocetin (low)
Many seropositive for HIV, hepatitis B or C (factor VIII concentrate transmission)
vW factor collagen binding assay
Low platelet count should suspect HIV-associated ITP7
Menorrhagia and epistaxis common
DxT spontaneous haemarthrosis + muscle bleeds + delayed bleeding →
Haemarthroses rare
haemophilia A
DxT menorrhagia + bruising + increased bleeding—1. incisions 2. dental
3. mucosal → vWD
Treatment

Treatment Infusion of recombinant factor VIII concentrates8

 Avoid aspirin Pneumococcal and meningococcal vaccines—depends on age and should be guided by
immunisation guidelines
Page 349
Haemophilus influenzae type B vaccine—once only if not immunised
Haemophilia B (Christmas disease)
Influenza vaccine—annual
Identical clinical features to haemophilia A
Long-term penicillin may be indicated: amoxicillin daily or phenoxymethylpenicillin bd
Also an X-linked recessive hereditary disorder
Urgent hospital admission if infection develops
Incidence of 1 in 30 000

Deficiency of coagulation factor IX Management principles for abnormal bleeding1

Same laboratory findings as haemophilia A apart from specific factor assays
Make the correct diagnosis.
Treatment is with recombinant factor IX concentrates
Stop or avoid drugs affecting the haemostatic system.

Splenectomy Control bleeding episodes with appropriate drugs, blood products and local measures, such as
simple compression or topical haemostatic agents.
Main indications: Infuse appropriate blood components for the treatment of coagulation factor deficiencies and
some platelet disorders (e.g. factor VIII for haemophilia A, fresh frozen plasma for multiple
immune thrombocytopenic purpura
factor deficiency).
haemolytic anaemias, esp. hereditary spherocytosis
Refer patients with identified defects to a consultant haematologist or haemophilia centre.
hypersplenism
Supervise advanced planning in patients intending pregnancy, surgery or dental extraction.
trauma

Hodgkin/non-Hodgkin lymphoma
When to refer1
Management of haemorrhage is not amenable to simple measures such as local therapy with
Post-splenectomy management9 simple compression and other measures.

Immediate problem is thrombocytosis (↑ platelets to 600–1000 × 109/L) for 2–3 weeks with risk Elective surgery or pregnancy is being planned.
of thromboembolism.
Platelet count <30 × 109/L.
Long-term risk is overwhelming infection (S. pneumoniae [especially], Haemophilus influenzae
and meningococcus), especially in young children in the first 2–3 years post-splenectomy. For
elective surgery give immunisation at least 2 weeks before surgery. Best under specialist Practice tips
guidance. Lifelong prophylaxis should be considered in select patients such as those severely
immunocompromised. A careful history and physical examination will usually pinpoint the cause of the
bleeding disorder.
Prophylaxis
Drug therapy can lead to unmasking of pre-existing haemostatic disorders (e.g.
Education about risks and early recognition of infection (special care with malaria) platelet dysfunction induced by aspirin may cause spontaneous bleeding in
patients with underlying vWD).
 Think of disseminated intravascular coagulation (DIC) in any acutely ill patient with 9 Antibiotic [updated 2019]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
abnormal bleeding from sites such as the mouth or nose, venepuncture or with Guidelines Limited; 2019. www.tg.org.au, accessed January 2019.
widespread ecchymoses. The clinical situations are numerous, such as
septicaemia, obstetric emergencies, disseminated malignant disease, falciparum
malaria and snake bites.

Be cautious of non-prescription therapies affecting oral anticoagulants or causing

platelet dysfunction (e.g. Ginkgo biloba).

Resources
Post surgical management—splenectomy. Spleen Australia.

Bleeding Assessment Tool: https://www.southernpath.com.au/media/6606/thrombophilia.pdf

Coagulation cascade: https://en.wikipedia.org/wiki/coagulation

Page 350

References
1 Mitchell CA, Dear A, Salem H. Bleeding disorders. In: MIMS Disease Index (2nd edn).
Sydney: IMS Publishing, 1996: 69–71.

2 Tran HAM. Bleeding disorders: does this patient have an increased risk of bleeding?
Common sense pathology. Australian Doctor, 2008, March.

3 McPherson J, Street A. Tests of haemostasis: detection of the patient at risk of bleeding.

Australian Prescriber, 1995; 18(2): 38–40.

4 Perth Children’s Hospital. Henoch-Schönlein purpura [March 2017]. Government of

Western Australia Child and Adolescent Health Service, March 2021. Available from:
https://pch.health.wa.gov.au/For-health-professionals/Emergency-Department-
Guidelines/Henoch-Schonlein-pupura, accessed March 2021.

5 Thomson K et al. Paediatric Handbook (8th edn). Oxford: Wiley-Blackwell, 2009: 280–1.

6 Proven D et al. International consensus report on the investigation and management of

primary immune thrombocytopenia. Blood, 2010; 115(2): 168–86.

7 Laffan MA et al. The diagnosis and management of von Willebrand disease. Br J Haemat,
2014: 167(4): 453–65.

8 Papadakis M, McPhee SJ. Current Medical Diagnosis and Treatment (52nd edn). New
York: The McGraw-Hill Companies, 2013: 551–2.
 Page 351

Key facts and checkpoints

Chest pain represents an acute coronary event until proved otherwise.
30 Chest pain Immediate life-threatening causes of spontaneous chest pain are:

myocardial infarction (MI) and unstable angina (acute coronary syndromes:

ACS)

pulmonary embolism
There is a disorder of the breast marked with strong and peculiar symptoms, considerable for the
kind of danger belonging to it. The seat of it, and sense of strangling, and anxiety with which it is aortic dissection
attended, may make it not improperly be called angina pectoris.
tension pneumothorax
WILLIAM HEBERDEN (1710–1801)
The main differential diagnoses of ACS include aortic dissection, pericarditis,
The presenting problem of chest pain is common yet very threatening to both patient and doctor oesophageal reflux and spasm, biliary colic and hyperventilation with anxiety and
because the underlying cause in many instances is potentially lethal, especially with chest pain of Takotsubo stress-related cardiomyopathy.
sudden onset. These patients require rapid evaluation with a 12-lead ECG. The causes of acute
chest pain are summarised and presented in FIGURE 30.1 . The history remains the most important clinical factor in the diagnosis of
ischaemic heart disease. With angina, a vital clue is the reproducibility of the
symptom.

Consider unstable angina = pre-myocardial infarction.

Unrecognised MI is roughly equally divided into atypical or silent. More common

with diabetes, hypertension, elderly and females.

Page 352

A diagnostic approach
The diagnostic strategy model (see TABLE 30.1 ) can be used to analyse chest pain according to
the five self-posed questions.

Table 30.1 Chest pain: diagnostic strategy model

Probability diagnosis
Musculoskeletal (chest wall)
FIGURE 30.1 Causes of acute chest pain Psychogenic
Gastro-oesophageal reflux disease
Angina
Serious disorders not to be missed Consider functional causes, especially anxiety or panic with hyperventilation (e.g.
Takotsubo syndrome), opioid dependency.
Cardiovascular:
acute coronary syndromes
aortic dissection
pulmonary embolism/infarction Probability diagnosis
myocarditis The commonest causes encountered in general practice are musculoskeletal or chest wall pain
Neoplasia: and psychogenic disorders. The former is a very important yet often overlooked cause and
lung cancer sometimes inappropriately referred to as fibrositis or neuralgia. Causes include costochondritis,
tumours of spinal cord and meninges muscular strains, dysfunction of the sternocostal joints and dysfunction of the lower cervical
spine or upper thoracic spine, which can cause referred pain to various areas of the chest wall.
Severe infections:
Gastro-oesophageal reflux may be difficult to distinguish from angina. Angina is common and
pneumonia/pleuritis (pleurisy)/empyema must always be considered. If angina-like pain lasts longer than 15 minutes, myocardial
mediastinitis infarction must be excluded.
pericarditis
Pneumothorax, esp. tension
Oesophageal rupture
Red flag pointers for acute chest pain

Pitfalls (often missed) Dizziness/syncope

Mitral valve prolapse Pain or heaviness/pressure in arms L > R, jaw

Oesophageal spasm
Thoracic back pain
Biliary colic/acute cholecystitis
Herpes zoster Sweating/diaphoresis
Fractured rib (e.g. cough fracture)
Palpitations
Costochondritis
Spinal dysfunction Syncope
Muscular tear
Rarities: Haemoptysis
Takotsubo cardiomyopathy Dyspnoea
pancreatitis; gall bladder disease
Bornholm disease (pleurodynia) Pain on inspiration
cocaine inhalation (can ↑ ischaemia) Pallor
hypertrophic cardiomyopathy
Past history: ischaemia, diabetes, hypertension
Seven masquerades checklist
Depression (possible)
Anaemia (indirect) Serious disorders not to be missed
Drugs (e.g. cocaine)
Spinal dysfunction The usual triad of malignancy, myocardial ischaemia and severe infections (see TABLE 30.1 )
must be considered. In addition, other uncommon cardiovascular catastrophes, such as a
Is the patient trying to tell me something? dissecting aortic aneurysm and pulmonary embolus, must be excluded, especially in those at risk.
Spontaneous pneumothorax should also be considered, especially in a young male of slight build.
Malignancies of the lung are relatively common and may present as pain when the previously
asymptomatic tumour invades nerves or the spine.
The severe infections that cause chest pain include pneumonia/pleurisy, pericarditis and
mediastinitis.
Pitfalls
Unfortunately, myocardial infarction and angina are often missed. Referred pain from spinal
dysfunction, especially if referred anteriorly, is commonly overlooked. Other pitfalls include a
cough fracture of a rib, herpes zoster (prior to the eruption) and gastrointestinal disorders,
including oesophageal spasm, reflux and cholecystitis. Mitral valve prolapse can cause chest
pain, although the mechanism is unclear: think of it in an unwell female prone to palpitations and
chest pain. The pain tends to be sharp, fleeting, non-exertional and located near the cardiac apex.
Page 353
General pitfalls
General pitfalls include:
not being ‘coronary aware’ in patients presenting with chest pain
referred pain from spinal disorders, especially of the lower cervical spine
labelling chest pain as psychological in an anxious person presenting with acute chest pain
assuming that pain radiating down the inside of the left arm is always cardiac in origin
being unaware that up to 20% of myocardial infarctions are silent, especially in elderly
patients, and that pulmonary embolism is often painless if the main pulmonary veins are
involved
Seven masquerades checklist
Of this group, spinal dysfunction is possible. Disc lesions from the lower cervical spine are
unlikely to cause chest wall pain, but dysfunction of the facet joints of this area of the spine and
the upper thoracic spine are common causes of referred pain to the chest wall. Nerve root pain
from spinal problems is rarely found in the chest wall. Pathological fractures secondary to
osteoporosis or malignancy in the vertebrae cause posterior wall pain. Cocaine users can present
with chest pain.
Psychogenic considerations
With psychogenic causes the pain can occur anywhere in the chest, and tends to be continuous
and sharp or stabbing rather than constricting. Associated symptoms, particularly during a panic
episode, include palpitations, deep breathing, fatigue, tremor, agitation and anxiety. Abnormal
stress, tension, anxiety or depression may precipitate the pain, which often lasts hours or days.
The clinical approach
History
A meticulous history of the behaviour of the pain is the key to diagnosis. The pain should be
analysed into its usual characteristics with the SOCRATES system (see CHAPTER 82 ).
Association with serious medical problems such as diabetes, Marfan syndrome, anaemia and
connective tissue disorders (e.g. SLE, RA) should be kept in mind. Consider coronary risk
factors. The ability to take a detailed history will obviously be limited with severe acute pain.
Associated symptoms
Syncope. Consider myocardial infarction, pulmonary embolus and dissecting aneurysm.
Pain on inspiration. Consider pleuritis, pericarditis, mediastinitis, pneumothorax and
musculoskeletal (chest wall pain).
Thoracic back pain. Consider spinal dysfunction, acute coronary syndromes, angina, aortic
dissection, pericarditis and gastrointestinal disorders such as a peptic ulcer, biliary
colic/cholecystitis and oesophageal spasm.
Key questions
Where exactly do you get the pain? Can you pinpoint it?
Does the pain travel anywhere?
Can you give me a careful description of the pain?
How long did the pain last and could you do anything to relieve it?
Is the pain brought on by exertion and relieved by rest?
Do cold conditions bring it on?
Do you have any other symptoms, such as breathlessness, faintness, fever, nausea or vomiting,
dizziness, weight loss, sweating or back pain?
Is the pain made worse by breathing or coughing, or by movement or pressing on that area?
Is there any blood in any sputum you bring up?
Is your pain associated with what you eat and drink? Or with a bitter taste?
 Do you get the pain on stooping over and after lying in bed at night? Possible findings on examination of a person with chest pain are presented in FIGURE 30.2 .1

Do antacids relieve your pain?

Have you noticed a rash where you get the pain?

Have you had a blow to your chest or an injury to your back?

Examination
The examination should focus on the following areas:

general appearance—evidence of atherosclerosis (senile arcus, thickened vessels), pale and

sweating (myocardial infarction, dissecting aneurysm or pulmonary embolus), hemiparesis (?
aortic dissection)

pulses—both radial and femoral—check for nature of pulse and absence of femoral pulses

blood pressure, temperature, respiratory rate, oxygen saturation

palpation of chest wall, lower cervical spine and thoracic spine—look for evidence of
localised tenderness, pathological fracture, spinal dysfunction, herpes zoster

palpation of legs—check for evidence of deep venous thrombosis

examination of chest—check for evidence of pneumothorax Page 354

auscultation of chest:

reduced breath sounds, hyper-resonant percussion note and vocal fremitus →

pneumothorax

friction rub → pericarditis or pleurisy

basal crackles → cardiac failure

apical systole murmur → mitral valve prolapse

FIGURE 30.2 Possible examination findings in a person with chest pain
aortic diastolic murmur → proximal dissection (aortic regurgitation)

Note: In the presence of a myocardial infarction, the examination may be normal but the patient,
apart from being cold, clammy or shocked, may have muffled heart sounds, a gallop rhythm, a
systolic murmur. With an aortic dissection the patient may also appear cold, clammy and
shocked, but may show absent femoral pulses, hemiparesis and a diastolic murmur of aortic
regurgitation.
upper abdominal palpation—check for tenderness suggestive of gall bladder disease or peptic
ulceration
Investigations1
The following investigations to aid diagnosis are available, although the majority are
sophisticated and confined to hospitals with high-technology imaging departments. The
fundamental tests that are readily available to the GP—ECG, chest X-ray and cardiac enzymes—
should help confirm the diagnosis in most instances. Anyone with undifferentiated chest pain
should have a 12-lead ECG. Page 355
Electrocardiogram (ECG) myoglobin

This may be diagnostic for ischaemia and myocardial infarction, although it is important to bear Transthoracic echocardiography
in mind that it may be normal with both, including the early minutes to hours of an acute
infarction. This can be used in the early stages of myocardial infarction to detect abnormalities in heart wall
motion, when ECGs and enzymes are not diagnostic. Stress echocardiography can be useful
It can be helpful to differentiate between myocardial infarction, pulmonary embolism and where standard exercise testing has been unhelpful.
pericarditis. The ECG in pulmonary embolism may be normal but if massive may show right
axis deviation, right BBB and right ventricular strain. Pericarditis is characterised by low Transoesophageal echocardiography (TOE)
voltages and saddle-shaped ST segment elevation.
More sensitive and is the investigation for dissecting aneurysm (immediate diagnosis), prosthetic
Exercise stress test valves and embolisation.

This is the key test for defining chest pain as cardiac in origin. Physical stress, such as the motor- Isotope scanning
driven treadmill or a bicycle ergometer, is used to elicit changes in the ECG to diagnose
myocardial ischaemia. 1. Technetium-99m pyrophosphate studies:

Exercise thallium scan myocardium—to diagnose posterolateral myocardial infarction in the presence of bundle
branch block
This radionuclide myocardial perfusion scan using thallium can complement the exercise ECG.
pulmonary—to diagnose pulmonary embolism
Ambulatory ECG Holter monitor
2. Gated blood pool nuclear scan (radionuclide ventriculography)—this scan tests left ventricular
This monitor is especially useful for silent ischaemia, variant angina and arrhythmias. function at rest and exercise in patients with myocardial ischaemia.

Chest X-ray Angiography (arteriography)

The routine CXR is taken in full inspiration. Ask for an expiration film if pneumothorax is Angiography, including CT angiogram, should be selective:
suspected.
1. coronary—to evaluate coronary arteries
Blood glucose 2. pulmonary—to diagnose pulmonary thromboembolism
Tests association with diabetes. 3. coronary CT

Haemoglobin and blood film 4. MRI

Anaemia is a possible associated factor. Coronary calcium scan

Serum enzymes The calcium score, which is elevated by high-speed non-invasive CT, shows the quantity of
calcium in the coronary vessels. It indicates risk for a coronary attack. A score of 0 reflects an
Damaged (necrosed) myocardial tissue releases cellular enzymes, which are markers of this excellent medium-term prognosis.
damage:
Oesophageal studies
troponin T and troponin I (the key marker)–on arrival and 2 hours later (ADAPT trial
protocol) Endoscopy
creatinine kinase (CK) and creatinine kinase–myocardial bound fraction (CK–MB)2
 Barium swallow The wide variation of sites of pain—umbilicus to jaw, including neck, inside of arms,
epigastrium and interscapular—should always be kept in mind (see FIG. 30.4 ). Pain is referred
Oesophageal manometry into the left arm more commonly than into the right arm. The best predictor of AMI is pain in
both arms. The best predictors for ruling out AMI are pleuritic chest pain, sharp pain and pain
Radionucleide transit studies reproduced by palpation.3

Spine—X-ray
Cervical spine

Thoracic spine

Site, radiation and features of chest pain

syndromes
Myocardial ischaemia1
Coronary artery disease includes the acute coronary syndromes (unstable angina and myocardial
infarction), stable angina and other variants of angina.

The typical retrosternal distribution of myocardial ischaemia is shown in FIGURE 30.3 .

Retrosternal pain or pain situated across the chest anteriorly should be regarded as cardiac until
proved otherwise.

Page 356
FIGURE 30.4 Pain of myocardial ischaemia: other sites

The quality of the pain is usually described as pressure, heaviness or tightness. The patient often
uses the clenched fist sign to illustrate a sense of constriction.

The radiation of pain will assist in differentiating ischaemic pain from that caused by pericarditis.
Enquiry about precipitating and relieving factors will enable a differentiation to be made between
ischaemic pain and the almost identical pain caused by reference from the spine. Associated
symptoms include dyspnoea, dizziness, nausea and vomiting, and sweating (diaphoresis).

If a retrosternal pain almost identical with that of myocardial ischaemia is precipitated not by
exertion, but by bending, lifting, straining or lying down, consider oesophageal reflux or spasm.
This is frequently confused with ischaemic heart disease and can cause radiation into the left
arm.

Stable angina. The pain of angina tends to last a few minutes only (average 3–5 minutes) and is
relieved by rest and glyceryl trinitrate (nitroglycerin). The pain may be precipitated by an
arrhythmia.

The types of acute coronary syndromes are summarised in TABLE 30.2 .5

FIGURE 30.3 Pain of myocardial ischaemia: typical site

Types of acute coronary syndromes
 Types of acute coronary syndromes
Table 30.2

Serum markers
Creatinine
Troponin ECG at evaluation
kinase
Unstable angina
Low risk Normal Non- Normal
detectable
High risk Normal Detectable ST depression
Myocardial infarction
Non-ST elevation Elevated Detectable ST depression, no Q
(NSTEMI) wave
ST elevation (STEMI) Elevated Detectable ± Q wave or new LBBB

STEMI = ST elevation myocardial infarction

1. Myocardial infarction. Ischaemic pain lasting longer than 15–20 minutes is usually infarction.
However, it can resolve in a few minutes or within 24 hours. The pain is typically heavy and
crushing, and can vary from mild to intense. Occasionally the attack is painless, typically with
diabetes. Pallor, sweating and vomiting may accompany the attack.
2. Unstable angina. This term includes rest angina, new onset effort angina, post-infarct angina
and post-coronary procedure angina. Severe ischaemic chest pain can last 15–20 minutes or
more. It is classified as low-risk or high-risk ‘minor myocardial damage’.
FIGURE 30.5 Pain of aortic dissection
Pulmonary embolism4
This may have a dramatic onset following occlusion of the pulmonary artery or a major branch,
especially if more than 50% of the cross-sectional area of the pulmonary trunk is occluded. There
are three general types: massive (obstructive shock or BP < 90 mmHg), submassive (acute
without hypotension but right ventricular dysfunction) and non-massive (low risk).

For management purposes it is best to classify the clinical presentation of acute The diagnosis can present clinical difficulties, especially when dyspnoea is present without pain.
ischaemic chest pain as an ST elevation myocardial infarction (STEMI) or a non-ST It can be asymptomatic. Embolism usually presents with retrosternal chest pain (see FIG. 30.6 )
elevation acute coronary syndrome (NSTEACS), which includes NSTEMI and and may be associated with syncope and breathlessness. In addition, hypotension, acute right
unstable angina. heart failure or cardiac arrest occurs with a massive embolus. The physical examination can be
deceptively normal. Pulmonary infarction is generally less dramatic than embolism and it is
usually accompanied by pleuritic chest pain and haemoptysis. It complicates embolism in about
10% of patients. The diagnosis is usually confirmed by a CT pulmonary angiogram (best) and/or
Aortic dissection V/Q scan (see later in chapter) and ECG (look for T-wave inversion V1–V4). The Wells score
for risk stratification is a useful probability guide. The D-dimer test is useful for helping ‘rule
Chest pain is present in 75% of dissections. The pain—which is usually sudden, unrelenting,
out’ a PE where it is already unlikely.
severe and midline—has a tearing or ripping sensation and is usually situated retrosternally and
between the scapulae (see FIG. 30.5 ). It radiates to the abdomen, flank and legs. An important
diagnostic feature is the inequality in the pulses (e.g. carotid, radial and femoral). There may also
be occlusion of the coronary or renal arteries with appropriate symptoms and signs. Hemiplegia,
aortic incompetence or cardiac tamponade can occur. Investigations include transoesophageal
electrocardiogram, CT angiogram and MRI. Page 357
 with simple analgesics. Recurrences may follow.

Acute pericarditis6
The clinical presentation depends on the cause, whether viral (commonest), a connective tissue
disorder, bacterial, uraemia or post-AMI. It may be idiopathic. There may be fever, malaise,
fatigue and anxiety.6

Signs: friction rub, tachycardia, paradoxical pulse

Investigations: ECG, CXR, echocardiography

Pericarditis causes three distinct types of pain:

1. pleuritic (the commonest), aggravated by cough and deep inspiration, sometimes brought on
by swallowing; worse with lying flat, relieved by sitting up and leaning forward

2. steady, crushing, retrosternal pain radiating to neck and arms that mimics myocardial
infarction
FIGURE 30.6 Pain of pulmonary embolism
3. pain synchronous with the heartbeat and felt over the praecordium and left shoulder

Pleuritis6 Occasionally, two and rarely all three types of pain may be present simultaneously (see
FIG. 30.7 ).
Inflammation of the pleura is due to underlying pneumonia (viral or bacterial), pulmonary
infarction, tumour infiltration or connective tissue disease (e.g. SLE).

Clinical features
Often sudden onset

Pain usually localised without radiation

Sharp knife-like pain

Continuous pain with sharp exacerbations

Aggravated by inspiration, sneezing and coughing

May be associated dyspnoea, cough, haemoptysis

Epidemic pleurodynia (Bornholm disease)

Unilateral severe knife-like intermittent chest pain and adjacent upper abdominal pain (‘the
devil’s grip’) following an URTI—affecting any age (i.e. younger average than MI). Other FIGURE 30.7 Pain of pericarditis
symptoms include fever, malaise, headache, and tender truncal muscles. It is caused by a
Coxsackie B virus. CXR is normal; diagnosis is by exclusion. It usually settles within a week The cardinal sign is a pericardial friction rub (often transient). Treatment depends on the cause—
may be colchicine (3 months) plus aspirin or ibuprofen (1–2 weeks).7 Crushing Aching Heavy Searing
Vice-like Tightness
Spontaneous pneumothorax Burning Burning

The acute onset of pleuritic pain and dyspnoea in a person with a history of asthma or Pain site Deep Deep Retrosternal Anterior chest
emphysema is the hallmark of a pneumothorax. It is due to a rupture of a subpleural ‘bleb’ or a retrosternal retrosternal
small air-containing cyst. It often occurs in young, slender males without a history of lung Pain Throat/lower As for Lateral chest Front to back of
disorders. The pain varies from mild to severe and can be felt anywhere in the chest, sometimes radiation jaw infarction (pleuritic) chest
being retrosternal. Typical pain distribution is shown in FIGURE 30.8 . The diagnosis is made Left arm Down back to
on expiration film. Page 358 (often) abdomen
Right arm Arms
(uncommon)
Back
(uncommon)

History Family, risk Family, risk Phlebitis Atherosclerosis

factors factors Calf pain Hypertension
Immobility ?Marfan
Surgery
Malignancy
Associated Pallor, Strangling in Dyspnoea, Syncope, pallor,
symptoms nausea, throat syncope, cyanosis,
sweating, sweating, Neurological:
vomiting, vomiting, hemiparesis
dyspnoea, cyanosis,
syncope agitation, paraplegia
haemoptysis
FIGURE 30.8 Pain of pneumothorax (right side) Pulse Variable Variable Tachycardia Unequal, some
arrhythmias arrhythmias absent
If a tension pneumothorax becomes painful and dyspnoea becomes rapidly more intense, urgent
Cardiac ± Gallop S3 during ↓ Pulmonary ± Murmur of Al
decompression of air is essential (see later in chapter). A comparison of the serious causes of
auscultation rhythm attack S2, S3 or S4
acute chest pain is summarised in TABLE 30.3 . Page 359
murmur of MI
Chest Basal ±
auscultation crackles Adventitious
Table 30.3 A comparison of the serious causes of acute chest pain sounds
Chest X-ray ± Localised Widening of
Myocardial Pulmonary oligaemia or mediastinum
Angina Aortic dissection
infarction embolus infarction
Pain +→++++ + +→+++ +++++ ECG Q waves ST Normal or ST R axis May show
intensity elevation T depression deviation S1, myocardial
Pain quality Heavy Heavy Dull Tearing inversion Q3, T3 sign infarction
 (variable)
Table 30.4 Features differentiating angina-like oesophageal pain and
Special Serum Stress ECG Lung TOE
cardiac pain
definitive enzymes: Coronary scanning Ultrasound
diagnostic troponin angiography CT Aortic
tests I or T pulmonary Non-
Technetium angiography Favour oesophageal Favour cardiac
Cardiac angiography discriminating
scanning CT scan
scanning V/Q scan Precipitating Meals, posture Consistently Emotion
Enzymes
factors with exercise
Relieving Antacids Rest,
factors nitrates

Oesophageal pain Radiation Epigastrium Arm Back

Gastro-oesophageal reflux can cause oesophagitis characterised by a burning epigastric or Associated Heartburn, Dyspnoea Sweating
retrosternal pain that may radiate to the jaw. Consider oesophageal rupture if sudden onset after symptoms regurgitation,
endoscopy. The pain is aggravated or precipitated by lying flat or bending over, especially after dysphagia
meals, and is more frequent at night. The pain is worse if oesophageal spasm is present.
Oesophageal motor disorders, including spasm, may occur in isolation. The pain may radiate
uncommonly to the back (see FIG. 30.9 ). It may be precipitated by eating, especially hot or
cold food and drink, and may be relieved by eating or by glyceryl trinitrate (nitroglycerin) and
other nitrates. Features differentiating angina-like oesophageal pain and cardiac pain are Table 30.5 A comparison of gastrointestinal causes of chest pain
presented in TABLE 30.4 . Gastrointestinal causes of chest pain are summarised in
TABLE 30.5 .1
Oesophageal Gall bladder
Acid reflux Peptic ulcer
spasm disease
Site Epigastric Deep Deep Right
retrosternal retrosternal hypochondrium
Radiation Retrosternal Back To back Below right
Throat (DU) scapula
Tip right
shoulder
Quality Burning Constricting Gnawing Deep ache
Precipitation Heavy Eating hot/cold Eating: Fatty food
meals food and drinks GU:
Wine/coffee 30
Lying min
Bending DU:
2–3
hours
Relief Standing Antispasmodics Antacids Getting onto
FIGURE 30.9 Oesophageal pain Page 360 Antacids Nitroglycerin hands and
knees
 Associated Water brash Dysphagia Dyspepsia Flatulence
symptoms Dyspepsia
GU = gastric ulcer; DU = duodenal ulcer
Spinal pain
The commonest cause of pain of spinal origin is vertebral dysfunction of the lower cervical or
upper dorsal region (see CHAPTER 27 ). The spinal problem may be a disc prolapse (relatively
common in the lower cervical spine, but rare in the upper thoracic spine) or dysfunction of the
facet joints or costovertebral joints causing referred pain. This referred pain can be present
anywhere in the chest wall, including anterior chest, which causes confusion with cardiac pain
(see FIG. 30.10 ). The pain is dull and aching. It may be aggravated by exertion, certain body
movements or deep inspiration. The old trap for unilateral nerve root pain is herpes zoster.
FIGURE 30.10 Possible pain sites for thoracic spinal dysfunction (left side)
Costochondritis6
This causes mild to moderate anterior chest wall pain that may radiate to the chest, back or
abdomen. It is usually unilateral, sharp in nature and exaggerated by breathing, physical activity
or a specific position. It may be preceded by exercise or a URTI and can persist for several
months. It is diagnosed by eliciting tenderness at the costochondral junction of the affected ribs
and needs to be differentiated from Tietze syndrome, where there is a tender, fusiform swelling
at the costochondral junction (refer to CHAPTER 93 ).
Psychogenic pain
Psychogenic chest pain can occur anywhere in the chest, but often it is located in the left
submammary region, usually without radiation (see FIG. 30.11 ). It tends to be continuous and
sharp or stabbing. It may mimic angina but tends to last for hours or days. It is usually
aggravated by tiredness or emotional tension and may be associated with shortness of breath,
fatigue and palpitations.
FIGURE 30.11 Typical sites of psychogenic pain
Da Costa syndrome (effort syndrome) is recurrent attacks of stabbing left-sided submammary
pain, usually associated with anxiety ± depression.
Takotsubo cardiomyopathy or ‘broken heart syndrome’ presents with acute chest pain and
shortness of breath. It mimics an acute anterior myocardial infarction. It is caused by a major
catecholamine discharge following an emotionally stressful event, resulting in apical left
ventricular ballooning. Treatment is usually with aspirin, beta blockers and ACE inhibitors. Most
recover completely.
Page 361
Chest pain in children
Chest pain in children is rarely the result of serious pathology but is an important complaint,
especially in adolescents. A US study has shown that the mean age for childhood chest pain is
11.9 years.8 Most cases are of unknown aetiology (probably many are psychogenic), while
common causes include musculoskeletal disorders, cough-induced pain, costochondritis,
psychogenic disturbance (includes hyperventilation) and asthma.8 See TABLE 30.6 .
Chest pain in children younger than 12 years old is more likely to have a cardiorespiratory cause,
Table 30.6 such as cough, asthma, pneumonia or heart disease, while chest pain in adolescents is more likely
Causes of chest pain in children:
to be psychogenic.
diagnostic model8
Causes of musculoskeletal pain include strains to pectoral, shoulder or back muscles after
excessive exercise, and minor trauma from sports such as football or wrestling.
Probability diagnosis
Musculoskeletal (chest wall pain) Breast problems can present as chest pain.
cough strain (10%)
injury Cardiac causes
muscle strain
Myocardial ischaemia is very rare in children but should be considered in any child with
costochondritis
exercise-induced chest pain, adolescents with longstanding diabetes and children with sickle-cell
precordial catch syndrome (stitch in side) anaemia.
asthma
Note: The most common category is ‘unknown’ (21%) Precordial catch (Texidor twinge or stitch in the side)9
Serious disorders not to be missed This complaint, which is common in children and adolescents, presents as a unilateral low chest
pain that lasts usually 30 seconds to 3 minutes, typically with exercise, such as long-distance
Vascular running. The pain is relieved by straightening up and taking very slow deep breaths followed by
ischaemic pain: structural cardiac conditions shallow breaths.
arrhythmias (e.g. PSVT)
Infection Chest pain in the elderly
pericarditis
myocarditis Chest pain is a very important symptom in the elderly as the life-threatening cardiovascular
pneumonia conditions—myocardial infarction and angina, dissecting aneurysm and ruptured aorta—are an
increasing manifestation with age. The elderly patient presenting with chest pain is most likely to
herpes zoster
have angina or myocardial infarction. Other important disorders to consider are herpes zoster,
Other: cough fracture of the rib, malignancy, pleurisy, pulmonary embolus and gastro-oesophageal
pneumothorax reflux.
POTS syndrome
Pitfalls (often missed)
Angina pectoris
Kawasaki syndrome Main features
Breast disorders
Cocaine inhalation There is a 2–3% incidence between 25 and 64 years.10
Rarities:
The history is the basis of diagnosis.
Bornholm disease
oesophagitis or gastric pain Angina is an oppressive discomfort rather than a pain, typically transient and lasting <10 mins.

Is the patient trying to tell me something? It is mainly retrosternal: radiates to arms, jaw, throat, back.
Psychogenic: stress, anxiety, depression (10%)
It may be associated with shortness of breath, nausea, faintness and sweating.
 It occurs during exercise, emotion, after meals or in cold. Aids to diagnosis
It is relieved within a few minutes with rest.
ECG
Physical examination is usually not helpful, except during an attack.
This may be normal or show ischaemia or evidence of earlier infarction. During an attack it may
Mitral valve prolapse, oesophageal spasm and dissecting aneurysm are important differential be normal or show well-marked depression of the ST segment, symmetrical T-wave inversion
diagnoses. (see FIG. 30.12 ) or tall upright T waves.

The causes of angina are summarised in TABLE 30.7 .

Page 362

Table 30.7 Causes of angina

Coronary artery atheroma

Valvular lesions (e.g. aortic stenosis)
Rapid arrhythmias
Anaemia
Rarities:
vasculitis
trauma FIGURE 30.12 Typical ECG pattern for angina pectoris: this tracing is usually
collagen disease observed during an attack
Note: There is no specific ECG of angina; the most that can be said is that an ECG is consistent with angina

Note: Look for fever and tachycardia. Rule out anaemia and thyrotoxicity.
Variants1,10
Stable angina. Pain occurs with exertion and is usually predictable with no symptom change
during the past month.
Unstable angina (also referred to as crescendo angina, pre-infarct angina and acute coronary
insufficiency). It is increasing angina (severity and duration) over a short period of time,
precipitated by less effort and may come on at rest, especially at night. It may eventually lead
to complete infarction, often with relief of symptoms. It is due to unstable plaque.
Nocturnal angina. Pain occurs during the night. It is related to unstable angina.
Decubitus angina. The pain occurs when lying flat and is relieved by sitting up.
Exercise ECG
This is positive in about 75% of those with severe coronary artery disease and should be
performed if the diagnosis is in doubt, for prognostic reasons or to aid in the timing of additional
investigations (e.g. coronary angiography). A normal stress test does not rule out coronary artery
disease.
Exercise thallium-201 scan
This test is helpful in some difficult circumstances such as in the presence of left branch bundle
block (LBBB), old infarction and Wolff–Parkinson–White (WPW) syndrome (when exercise test
is of little use) and with mitral valve prolapse, which gives high false-positive tests. It helps
determine the presence and extent of reversible myocardial ischaemia since thallium is only
taken up by perfused tissue.

Variant angina or Prinzmetal angina or spasm angina.5 The pain occurs at rest and without Ambulatory ECG Holter monitoring
apparent cause. It is associated with typical transient ECG changes of ST elevation (as
compared with the classic changes of ST depression during effort angina). It can lead to Occasionally useful for detecting intermittent rhythm disturbances.
infarction and cause arrhythmias. It is caused by coronary artery spasm.
Gated blood pool nuclear scan
Table 30.8 Indications for coronary angiography
This test assesses the ejection fraction, which is an index of ventricular function and thus aids
assessment of patients for coronary artery bypass surgery.
Strong positive exercise stress test
Echocardiography Suspected left main coronary artery disease
Angina resistant to medical treatment
This assesses global and regional wall motion abnormalities, valvular dysfunction and
Suspected but not otherwise proven angina
pericardium status.
Acute coronary syndromes
Coronary angiography Angina after myocardial infarction
Patients over 30 years with aortic and mitral valve disease being considered for
This test accurately outlines the extent and severity of coronary artery disease (see FIG. 30.13 ). valve surgery
It is usually used to determine the precise coronary artery anatomy prior to surgery. CT
angiography provides a safer alternative in many circumstances.

Management of stable angina

Preventions
This is especially important for those with a positive family history and an unsatisfactory
lifestyle. Modification of risk factors:

no smoking

weight reduction

healthy eating/optimal low-fat diet

exercise

control of hypertension

control of diabetes

control of blood lipids

General advice for stable angina

FIGURE 30.13 Coronary angiogram of a left coronary artery (LCA) with a tight
stenosis in the proximal left anterior descending (LAD) artery (black arrow).
The circumflex artery (CX) has two moderately severe stenoses (white arrows).
The relationship between the degree of angina and coronary artery disease is not Page 363
clear-cut. Some people with severe angina have normal coronary arteries.
Reassure patient that angina has a reasonably good prognosis: 30% survive more than 10
years;10 spontaneous remission can occur.
Attend to any risk factors.
If inactive, take on an activity such as walking for 20 minutes a day.

Indications for coronary angiography are presented in TABLE 30.8 . Take regular exercise to the threshold of angina.
 If tense and stressed, cultivate a more relaxed attitude to life—consider a stress advise patient to get medical advice if no relief after 3 doses
management/relaxation course.
Note: Avoid nitrates if sildenafil or vardenafil used in the previous 24 hours or tadalafil in the
Avoid precipitating factors. previous 5 days.

Don’t excessively restrict lifestyle. Prevention of angina5

Medical treatment5,10 Moderate stable angina

The acute attack and episodic angina Regular predictable attacks precipitated by moderate exertion. For prevention:

Nitrates: add to aspirin (if not contraindicated)

glyceryl trinitrate 300–600 mcg tab sublingually, max 1800 mcg beta blocker, e.g. atenolol 25 mg (o) once daily, increasing to 100 mg if required

or or

glyceryl trinitrate SL 400 mcg metered dose spray: 1 spray; repeat after 5 minutes if pain metoprolol 25 mg (o) twice daily, increasing to 100 mg if required
persists (maximum three doses)
plus nitrates
or
glyceryl trinitrate 5–15 mg (transdermal patch) daily (use for 14 hours only)
isosorbide dinitrate 5 mg sublingually; repeat every 5 minutes if pain persists (maximum 3
tablets) or

or isosorbide mononitrate 30 mg (o) SR tablet mane, increasing to 120 mg if required

aspirin 150 mg (o) Note: Aim for a daily nitrate-free interval.

or if intolerant to nitrates Persistent angina

nifedipine 5 mg capsule (suck or chew) Not prevented by beta blocker:
Tips about glyceryl trinitrate: add
if pain persists for longer than 10 minutes despite two doses of nitrates, take a third dose and a dihydropyridine calcium-channel blocker (CCB)
call for an ambulance
nifedipine CR 30–60 mg (o) once daily Page 364
warn about headache and other side effects
or
sit down while administering
amlodipine 2.5–10 mg (o) once daily
take ½ (initially) or 1 tablet or 1 spray every 5 minutes
plus nitrates
take a maximum of 3 doses in 15 minutes
If beta blocker contraindicated (use a non-dihydropyridine calcium-channel blocker):
keep tablets out of light and heat—discard the bottle after being opened for 3 months or after 2
days if carried on the person diltiazem MR 180–360 mg (o) daily
 or A common technique is dilating coronary atheromatous obstructions by inflating a balloon
against the obstruction—percutaneous transluminal coronary angioplasty (PTCA) (see
verapamil MR120–480 mg (o) daily FIG. 30.14 )—and maintaining patency with intracoronary stent devices.

Refractory stable angina

Consider adding nicorandil 5 mg (o) bd, increasing after a week to 10–20 mg bd or replacing the
CCB with perhexiline

or

ivabradine and seeking specialist advice
Unstable angina
Includes onset of angina at rest, abrupt worsening of angina and angina following acute
myocardial infarction.
Should be hospitalised for stabilisation and further evaluation. May need IV nitrate therapy.
The objectives are to optimise therapy and consider coronary angiography with a view to a
corrective procedure.
Rules of practice
For variant angina (spasm) use nitrates and calcium antagonist (avoid beta blockers).
As a rule, avoid the combination of verapamil and a beta blocker (risk of tachycardia and heart
block).
Do not combine a dihydropyridine CCB with a non-dihydropyridine CCB.
Tolerance to nitrate use is a problem, so 24-hour coverage with long-acting preparations is not
recommended.
FIGURE 30.14 Percutaneous transluminal angioplasty (PTCA) with an
inflatable balloon
Two complications of the balloon inflation angioplasty are acute coronary occlusion (2–4%) and
restenosis, which occurs in 30% in the first 6 months after angioplasty.10
Intracoronary stents
The evidence supporting coronary stents for stable angina is steadily narrowing due to better
designed RCTs.11 The first ever truly double-blind trial (ORBITA) in 2017 showed no
improvement in exercise time vs sham surgery, even for those with severe coronary artery
disease (but stable angina). This is supported by other studies showing that adding a stent to
optimal medical treatment, in terms of death and MI rates, results in either modest or no
improvement. However, stents do result in a reduction in angina symptoms in stable angina, and
they also reduce deaths and MIs in acute coronary syndromes.
PTCA followed by stenting is the most favoured procedure to maintain patency of the obstructed
coronary vessel (see FIG. 30.15 ). Drug eluting stents, which include drugs such as
pimecrolimus, sirolimus or paclitaxel, can be used as well as the bare metal stent. Stent patients
require long-term antiplatelet agents (e.g. aspirin plus clopidogrel) (specialist advice is required).

Consider using the potassium-channel-opening vasodilator nicorandil 5 mg (o) bd to

10–20 mg (o) bd (after 1 week). Can use as alternative to long-acting nitrates. The new agent
ivabradine can be considered.

Nitrates can be used prophylactically prior to any exertion that is likely to provoke angina (e.g.
glyceryl trinitrate spray or tablet or isosorbide dinitrate 5 mg tablet)

Avoid nitrates if the patient has used a 5 phosphodiesterase inhibitor in the past 1–5 days.

Non-medical treatment5

Percutaneous intervention (PCI) and coronary angioplasty (the gold standard)

 FIGURE 30.15 Illustration of stenting a coronary artery

Page 365
Coronary artery surgery

The main surgical techniques in current use are coronary artery bypass grafting (CABG) using
either a vein (usually the saphenous) (see FIG. 30.16 ) or internal mammary arterial
implantation (see FIG. 30.17 ) or both, and endarterectomy.
FIGURE 30.16 Coronary artery bypass grafting to relieve coronary obstruction
 About 20% have no pain. These have a high mortality rate

‘Silent infarcts’ in females, elderly and those with diabetes or hypertension.

60% of those who die do so before reaching hospital, within 2 hours of the onset of symptoms

In those who arrive alive, hospital mortality is 8–10%12

Like CVA, seems to peak at 6–10 am

Diagnosis is based on 2 out of 3 criteria: history of prolonged ischaemic pain, typical ECG
appearance, and rise and fall of cardiac enzymes.

Aetiology
Thrombosis with occlusion

Haemorrhage under a plaque

Rupture of a plaque

Coronary artery spasm

Signs
These may be:

no abnormal signs

pale/grey, clammy, dyspnoeic

FIGURE 30.17 Internal mammary arterial transplantation to relieve
obstruction restless and apprehensive

Symptomatic patients with significant left main coronary obstruction should undergo bypass variable BP with pain ↓ heart pump failure
surgery, and those with two or three vessel obstruction and good ventricular function are often
considered for angioplasty or surgery. A significant improvement in the quantity and quality of variable pulse: watch for bradyarrhythmias
life can be expected.
mild cardiac failure: third or fourth heart sound, basal crackles
Myocardial infarction Investigations
Clinical guidelines12 1. ECG. The ECG is valuable with characteristic changes in a full thickness infarction. The
typical features (see FIG. 30.18 ) are: Page 366
Variable pain; may be mistaken for indigestion
the Q wave: broad (>1 mm) and deep >25% length R wave
Similar to angina but more oppressive
occurs normally in leads AVR and V1; III (sometimes)
So severe, patient may fear imminent death—angor animi
abnormal if in other leads
 occurs also with WPW and ventricular tachycardia (VT)

usually permanent feature after full thickness AMI

T wave and ST segment:

transient changes (inversion and elevation respectively)

FIGURE 30.18 Typical ECG features of myocardial infarction, illustrating a

Q wave, ST elevation and T-wave inversion

The typical progression is shown in FIGURE 30.19 .


FIGURE 30.19 Typical evolution of ECG changes with myocardial infarction
Note:
Q waves do not develop in subendocardial infarction.
The strategies for management of AMI are based on the distinction between Q wave
(transmural) or non-Q wave (subendocardial) infarction.
Q wave infarction has been proved to benefit from thrombolytic therapy, but non-Q wave
infarction has not.
If new LBBB, think AMI (in LBBB no Q wave).
A normal ECG, especially early, does not exclude AMI. Q waves may take days to develop.
2. Cardiac enzymes. The typical enzyme patterns are presented in FIGURE 30.20 . As a rule,
large infarcts tend to produce high serum enzyme levels. The elevated enzymes can help time
the infarct:
starts rising at 3–12 hours, peaks at 24 hours and persists for about 5–14 days
positive in unstable angina
raised in aortic dissection and kidney impairment
may have to wait until 10 hours before recording a negative result
not useful for repeat MI
both proteins, I and T, provide same information
reference interval <0.1 µg/L
creatinine kinase (CK):
after delay of 6–8 hours from the onset of pain it peaks at 20–24 hours and usually
returns to normal by 48 hours
CK–MB: myocardial necrosis is present if >15% of total CK; unlike CK, it is not
affected by intramuscular injectionsFurther management of STEMI

3. Technetium pyrophosphate scanning

Performed from 24 hours to 14 days after onset.

Scans for ‘hot spots’, especially when a posterolateral AMI is suspected and ECG is
unhelpful because of pre-existing LBBB.

4. Echocardiography. This is used to assist diagnosis when other tests are not diagnostic.

Note: The clinical diagnosis may be the most reliable, as the ECG and enzymes may be negative.

Management of acute coronary syndromes

Page 367
12,13
General principles
Aim for immediate attendance if suspected.

Pre-hospital: make diagnosis, assess risk, ensure stability. A 12-lead ECG should be arranged
FIGURE 30.20 Typical cardiac enzyme patterns following myocardial ASAP.
infarction
Call a mobile coronary care unit.
troponin I or T:
Achieve coronary perfusion and minimise infarct size.
the preferred test
Prevent and treat cardiac arrest; have a defibrillator available to treat ventricular fibrillation.
 Optimal treatment is in a modern coronary care unit (if possible) with continuous ECG
monitoring (first 48 hours) and a peripheral IV line (consider intranasal oxygen only if
hypoxaemic <94% saturation).
Pay careful attention to relief of pain and apprehension.
Establish a caring empathy with the patient.
Give aspirin as early as possible (if no contraindications): 300 mg chewed or dissolved
sublingually.
Prescribe a beta blocker and an ACE inhibitor early (if no contraindications).
Note: For a STEMI it is important to re-establish flow as soon as possible, usually by either
thrombolytic therapy or primary angioplasty (preferably with stenting). Rescue angioplasty is
usually used when large infarcts have not perfused at 60–90 minutes.5
Hospital management5,12
As for first-line management.
Confirm ECG diagnosis: STEMI or NSTEACS.
Take blood for cardiac enzymes, particularly troponin, urea and electrolytes.
Organise an urgent cardiology consultation for risk stratification and a decision whether to
proceed to coronary angiography and coronary reperfusion with PCI (or CABG) or with
thrombolysis.
Management of STEMI13
The optimal first-line treatment for the patient with a STEMI is urgent referral to a coronary
catheter laboratory ideally within 60 minutes (the golden hour) of the onset of pain for
assessment after coronary angiography for percutaneous transluminal coronary angioplasty
(PTCA). If available and performed by an interventional cardiologist it has the best outcomes
(level I evidence).
The principle is to achieve rapid reperfusion via primary angioplasty with a stent (optimal stent
status currently under evaluation).
Adjunct therapy will include dual antiplatelet therapy—aspirin and a P2Y12 inhibitor
(clopidogrel, ticagrelor or prasugrel) and anticoagulation with low molecular weight heparin or
unfractionated heparin, a statin and an ACE inhibitor.
Urgent reperfusion guidelines
Within 60 minutes of symptom onset STEMI: PCI (optimal)
Within 90 minutes of onset STEMI: PCI (acceptable)
If these targets are not reached: fibrinolysis within 30 minutes of arrival
For patients presenting >12 hours after onset of symptoms, consider reperfusion if:
continuing ischaemia
viable myocardium
major complications, e.g. cardiogenic shock5
First-line management acute chest pain of possible cardiac
origin (e.g. outside hospital)
Perform an ECG and classify ACS into STEMI or NSTEACS, and notify the
medical facility that will receive the patient (discuss over the telephone). The
ECG is the sole test required to select patients for emergency perfusion
Oxygen 4–6 L/min only if hypoxaemic (aim to keep PaO2 >90%)
Secure an IV line (withdraw blood for tests, especially troponin levels)
Glyceryl trinitrate (nitroglycerin) 300 mcg (½ tab) SL or spray 400 mcg (every 5
minutes as necessary to maximum of three doses). Beware of sildenafil (Viagra)
and related drugs use and bradycardia—correct with atropine
Aspirin 300 mg
Morphine 2.5–5 mg IV statim bolus: then 1 mg/min every 5–10 mins until pain
relief (up to 15 mg) or fentanyl 25–50 mcg IV (If feasible, it is preferable to give IV
morphine 1 mg/min until relief of pain; this titration is easier in hospital.)
Management of NSTEACS
NSTEACS can progress to a STEMI; therefore all patients with NSTEACS should have ongoing
monitoring in hospital and their risk stratified to direct management decisions. Page 368
Reperfusion therapy14,15
All patients with acute myocardial infarction should be considered for admission to a coronary
care unit for monitoring and expert care. The decision of reperfusion therapy by PCI or
fibrinolytic therapy will be determined by unit policy based on availability of PCI.
Fibrinolytic therapy Proven:1,13,14

If angioplasty is unachievable either through timing or the unavailability of the service (such as beta blockers—within 12 hours
in rural locations), thrombolysis is an indication for STEMI and the sooner the better, but
preferably within 12 hours of the commencement of chest pain.5,13 The decision should be made ACE inhibitors—within 24 hours after stabilisation
by an experienced consultant, especially as PCI is not usually possible once fibrinolytic therapy
aspirin 75–150 mg and clopidogrel 75 mg (o) daily or both (alternatives to clopidogrel:
has been given.
ticagrelor or prasugrel)
Second-generation fibrin-specific agents (reteplase, alteplase or tenecteplase) are the agents of
choice. Streptokinase can be used but it is inappropriate for use in Aboriginal and Torres Strait lipid-lowering drugs (e.g. statins)
Islander people and those who have received it on a previous occasion. There are several other anticoagulants (for specific indications, e.g. atrial fibrillation)
contraindications for the use of fibrinolytic agents.
Targets:
Further management strategies include:
BP <140/90 (lower if tolerated); TC <4 mmol/L; LDLC <2 mmol/L; TG <2 mmol/L
Full heparinisation for 24–36 hours (after rt-PA—not after streptokinase), especially for large
anterior transmural infarction with risk of embolisation, supplemented by warfarin.
Ongoing management
Use LMW heparin (e.g. enoxaparin 1 mg/kg SC bd or unfractionated heparin 5000–7500 units
SC 12 hourly). Education and counselling

Further management of STEMI (?myocardial infarction): Bed rest 24–48 hours

Antiplatelet therapy: aspirin + clopidogrel Continuing ECG monitoring

Beta blocker (if no thrombolytic therapy or contraindications) as soon as possible: Check serum potassium and magnesium

atenolol 25–100 mg (o) daily Early mobilisation to full activity over 7–12 days

or Light diet

metoprolol 25–100 mg (o) twice daily Sedation

Consider glyceryl trinitrate IV infusion if pain recurs Beta blocker (o): atenolol or metoprolol

Start early introduction of ACE inhibitors (within 24–48 hours) in those with significant left Anticoagulation where indicated (certainly if evidence of thrombus with echocardiography)
ventricular (LV) dysfunction (and other indications)
ACE inhibitors for left ventricular failure and to prevent remodelling
Statin therapy to lower cholesterol
Monitor psychological issues (e.g. anxiety)
Treat hypokalaemia
On discharge
Consider magnesium sulphate (after thrombolysis)
Rehabilitation program
Consider frusemide
Continued education and counselling
Post-AMI drug management No smoking
 Reduce weight diuretic (e.g. frusemide)

Regular exercise, especially walking morphine IV

Exercise test (consider, if result will change management) glyceryl trinitrate: IV, SL (o) or topical

Continue beta blockers for 2 years ACE inhibitors

Continue ACE inhibitors Cardiogenic shock (a major hospital management procedure)

Aspirin 100–150 mg daily and clopidogrel 75 mg daily Requires early specialist intervention which may include:
Anticoagulation where indicated (at least 3 months) adrenaline—titrated to BP
Statin therapy treat hypotension with inotropes
Follow-up studies, e.g. myocardial perfusion intra-aortic balloon pump

Special management issues urgent angiography ± angioplasty/surgery

Indications for coronary angiography Pericarditis

Development of angina This occurs in first few days after AMI (usually anterior AMI), with onset of sharp pain.

Strongly positive exercise test Signs: pericardial friction rub

Consider after use of streptokinase Treatment: anti-inflammatory medication (e.g. aspirin, indomethacin or ibuprofen for pain)
with caution
Management of the extensive infarction Note: Avoid anticoagulants.
ACE inhibitors (even if no CCF)
Post-AMI syndrome (Dressler syndrome)
Radionuclide studies (to assess left ventricular function)
This occurs weeks or months later, usually around 6 weeks.
Beta blockers (proven value in severe infarction) if no contraindications or LV dysfunction
Features: pericarditis, fever, pericardial effusion (an autoimmune response)
Anticoagulation Page 369
Treatment: as for pericarditis
Treating and recognising complications of STEMI
Left ventricular aneurysm
Acute left ventricular failure This is a late complication.
Signs: basal crackles, extra (third or fourth) heart sounds, X-ray changes Clinical: cardiac failure
Treatment (according to severity) (refer to CHAPTER 76 ): Features: arrhythmias, embolisation
oxygen Signs: double ventricular impulse, fourth heart sound, visible bulge on X-ray
 Diagnosis: 2D electrocardiography Note: Increased incidence during pregnancy.

Treatment:
Pulmonary embolus
antiarrhythmic drugs
Investigations to diagnose suspected pulmonary embolus (choose from):6,17,18
anticoagulants
chest X-ray and ECG
medication for cardiac failure
CT pulmonary angiography (first-line study)
possible aneurysmectomy
radionucleide imaging—the ventilation/perfusion (V/Q) study
Right ventricular infarction digital subtraction angiography
This may accompany inferior MI and is life-threatening. D-dimer assay—sensitive for ‘ruling out’ in low risk, but not specific for ‘ruling in’

Ventricular septal rupture and mitral valve papillary rupture Doppler sonography of lower limbs
This presents with severe cardiac failure and a loud pansystolic murmur. Both have a poor arterial blood gases
prognosis and early surgical intervention may be appropriate.
Wells score: if >3, highly probable; if >6, diagnostic
Cardiac arrhythmias

All types are common with STEMI and require treatment according to guidelines in
Management (specialist care)
CHAPTER 59 . Methods may include defibrillation, cardioversion and pacemaking. Post infarct
prophylaxis with IV lignocaine is not indicated.5,16 Needs supportive medical care and anticoagulation:

DOACs
Anxiety and depression
or
Patients require anticipatory guidance and support including education, reassurance and
counselling. If necessary, anxiolytic agents and antidepressants may help recovery. heparin IV: 5000 U as immediate bolus, continuous infusion 30 000 U over 24 hours or 12 500
U (sc) bd
Page 370

Management of other serious spontaneous or

causes of chest pain low molecular weight heparin

Note: Thrombolytic therapy either IV or into the pulmonary artery can be used for major
Aortic dissection embolism. Surgical embolectomy is rarely necessary but needed if very extensive.

Early definitive diagnosis is necessary: best achieved by transoesophageal echocardiography. Pneumothorax19

50% of patients are hypertensive; so need pharmacological control of hypertension with IV Can be spontaneous (more common in COPD or asthma) or traumatic. Most episodes resolve
nitroprusside and beta blockers. spontaneously without drainage.
Emergency surgery needed for many, especially for type A (ascending aorta involved). Spontaneous pneumothoraces in a healthy adult should initially be managed conservatively
with analgesia (and oxygen if necessary) even if large.
 Recent trials have shown conservative management to be superior to pleural intervention in
terms of adverse events, complications and days in hospital.
Pleural intervention with a catheter is necessary for clinical deterioration: falling BP and
oxygen saturation, rising pulse and respiratory rate.
For recurrent attacks, excision of cysts or pleurodesis may be necessary.
Statistics indicate a 30–50% recurrence rate of spontaneous pneumothorax (most within 12
months), 35% on the same side, 10–15% on the opposite side. Recurrence should not recur
after a pleurodesis where the lung surface has been rendered adherent to the chest wall.
calcium-channel blockers (e.g. nifedipine CR 20–30 mg once daily)
Note: Attend to lifestyle and dietary factors, as for reflux.
Musculoskeletal causes of chest wall pain
There are many musculoskeletal causes, most of which can be eliminated by the history and
physical examination. Some of the causes listed in TABLE 30.9 are very uncommon and often
part of a general disorder, such as ankylosing spondylitis. Muscular tears or strains of the chest
wall are quite common. A differential diagnosis is a fractured rib including a cough fracture.

Acute tension pneumothorax Table 30.9 Musculoskeletal causes/origins of chest

For urgent cases insert a 12–16 gauge needle into the pleural space through the second wall pain (front and back)
intercostal space on the affected side. Replace with a formal intercostal catheter connected to
underwater seal drainage. Injury to thoracic spine → dysfunction
Vertebral fracture:
Treatment of oesophageal disorders trauma
pathological:
Gastro-oesophageal reflux osteoporosis
metastatic disease
Achieve normal weight if overweight. multiple myeloma
Avoid coffee, alcohol and spicy foods. Intercostal muscle strains/tears
Rib disorders:
Avoid large meals and overeating (keep to small meals). fractures
Use antacids or alginate compounds (e.g. Gaviscon, Mylanta Plus). slipping rib
Costochondritis
If persistent: Tietze syndrome
Fibromyalgia
acid suppression—H2-receptor blockers (e.g. ranitidine)

or

proton-pump inhibitors (e.g. omeprazole) Musculoskeletal chest pain is typically aggravated or provoked by movements such as stretching,
deep inspiration, sneezing and coughing. The pain tends to be sharp and stabbing in quality but
Reassess PPIs after 4–6 weeks; consider deprescribing long-term PPIs can have a constant aching quality. Page 371

Oesophageal spasm20 Costochondritis is a common cause of anterior pain, which is generally well localised to the
costochondral junction and may also be a component of an inflammatory disorder, such as one of
Long-acting nitrates (e.g. isosorbide dinitrate 10 mg tds) the spondyloarthropathies.

or Management is generally conservative with analgesics, gentle massage with analgesic creams
and NSAIDs if there is an inflammatory component. Other measures that can help for very
painful chest wall problems are localised injections of local anaesthetic with or without
corticosteroids (with care not to penetrate the parietal pleura) and a modified support (especially
for rib injuries) in the form of a special elasticised rib belt (called a universal rib belt) that gives
support and symptom relief while permitting adequate lung expansion.
Posterior chest (thoracic back) pain
Disorders of the musculoskeletal system represent the most common cause of thoracic (dorsal)
back pain, especially dysfunction of the joints of the thoracic spine. Refer to CHAPTER 27 for
more detail. Probably the commonest cause is costovertebral dysfunction caused by overstress of
rib articulations with vertebrae (the costovertebral joints). This fact is clearly demonstrated with
the midline thoracic back pain following cardiac surgery when these joints are compressed
during sternotomy and splaying of the chest walls.
The back pain may be associated with simultaneous referred anterior chest pain or abdominal
pain.
Acute thoracic back pain
Although posterior pain is invariably caused by vertebral dysfunction, there are several other
important causes, including serious bone disease (leading to compression fractures) and life-
threatening visceral and vascular causes. Refer to red flag pointers and TABLE 27.3 and
management guidelines in CHAPTER 27 .
Note:
Intervertebral disc protrusions are rare in the thoracic spine.
Rarely, a penetrating peptic ulcer can present with mid to lower thoracic back pain.
When to refer
Obvious or suspected myocardial infarction, especially with extensive infarction
Transfer to major centre with complications of AMI:
rupture of septum or papillary muscle
aneurysm
refractory arrhythmias
cardiogenic shock
Patients with persistent post-infarction angina
Angina:
angina not responding to drug treatment
unstable angina
angina lasting for longer than 15 minutes (unresponsive to sublingual nitrate) needs urgent
hospital admission
Suspected or proven pulmonary embolus or dissecting aneurysm or other serious life-
threatening problem (after initial first-line measures, e.g. decompression of tension
pneumothorax)
Suspected oesophageal or other gastrointestinal disorder (e.g. duodenal ulcer), for endoscopy
or appropriate gastroenterological evaluation
Practice tips
All sudden acute chest pain is cardiac (and potentially fatal) until proven
otherwise.
A careful history is the basis of the diagnosis.
Mitral valve prolapse can be an undiagnosed cause of chest pain: keep it in mind
if pain is recurrent and intermittent (confirm with echocardiography).
Calcium antagonists can cause peripheral oedema, so be careful not to attribute
this to heart failure.
The pain of oesophageal spasm can be very severe and mimic myocardial
infarction.
Oesophageal spasm responds to glyceryl trinitrate: do not confuse with angina.
Intervertebral disc protrusions are a very rare cause of severe sudden thoracic
pain (T2–9).
Infective endocarditis can cause pleuritic posterior chest pain.
GPs need to carefully monitor patients on anticoagulants. The INR ratio (usual
range 2–3, mechanical mitral valve 2.5–3.5) should be tested at least monthly.
The sudden onset of dyspnoea without chest pain can occur frequently with
(painless) myocardial infarction and pulmonary embolism.
If a person recovering from an AMI suddenly develops shortness of breath,
consider ventricular septal rupture, mitral valve papillary rupture (with mitral
 regurgitation), pulmonary embolus and other serious complications. Handbook Pty Ltd, 2018.

Treat (indefinitely) all post-MI patients with ACE inhibitors, and consider 11 Albuquerque LC, Gomes WJ. ORBITA Trial: redefining the role of intervention in the
continuing beta blockers beyond 12 months post-MI if reduced ejection fraction treatment of stable coronary disease? Braz J Cardiovasc Surg, 2018; 33(1): III–V.
(<40%) or ongoing angina.21
12 Psaltis P. Management of acute coronary syndrome. In: Monash University: update course
Use antiplatelet agents indefinitely—100–300 mg aspirin daily or, if notes, 2013: 2–20.
contraindicated, clopidogrel 75 mg daily.21
13 Aroney C, Aylward P (Co-chairs). Guidelines for the management of acute coronary
syndromes 2006. Med J Aust, 2006; 184(8): Suppl.
Page 372 14 Acute Coronary Syndromes Working Group. Guidelines for the management of acute
coronary syndromes. MJA, 2006; 184(8): S1–S30. © 2006. The Medical Journal of
Patient education resources Australia—reproduced with permission.

Hand-out sheets from Murtagh’s Patient Education 8th edition: 15 Chew DP et al. 2016 National Heart Foundation of Australia/Cardiac Society of Australia
and New Zealand: Australian clinical guidelines for the management of acute coronary
Angina syndromes (ACS) 2016. Heart Lung Circ, 2016; 25(9): 895–951.
Cardiovascular (including coronary) risk factors 16 Barton S, ed. Clinical Evidence. London. BMJ Publishing Group, 2001: 8–23.

References 17 Rashford S. Acute pleuritic chest pain. Aust Fam Physician, 2001; 30(9): 841–5.

1 Juergens C. Chest pain: how to treat. Australian Doctor, 2005; 2 September: 27–34.
2 Than M et al. 2-hour accelerated diagnostic protocol to assess patients with chest pain
symptoms using contemporary troponins as the only biomarker: the ADAPT trial. J Am
Coll Cardiol, 2012; 59(23): 2091–8.
3 West J, Daly S. Predictors of acute myocardial infarction. Am Fam Physician, 2017 Sep 1;
96(5): 328.
4 Management of unstable angina guidelines 2000. Med J Aust, 2000; 173(8): Suppl.
18 Lau L. Imaging Guidelines (4th edn). Melbourne: RANZC Radiologists, 2001: 70.
19 Respiratory guidelines [published 2020]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed March 2021.
20 Oesophageal disorder [published 2016]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed September 2017.
21 Cardiovascular [published 2018]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2018. www.tg.org.au, accessed February 2021.

5 Acute chest pain [updated 2018]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2018. www.tg.org.au, accessed May 2017.

6 Worsnop C, Pierce R. Pleuritic chest pain. MedicineToday, 2005; 6(3): 53–60.

7 Alabed S et al. Colchicine for pericarditis: Cochrane Database Syst Review, 2014: (8):
CD010652.

8 Selbst S et al. Paediatric chest pain: a prospective study. Paediatrics, 1988; 82: 319–23.

9 Reynolds JL. Precordial catch syndrome in children. Southern Medical Journal, 1989;
82(10): 1228–30.

10 Buckley, N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines

 Page 373

31 Constipation

I have finally kum to the konklusion, that a good reliable set of bowels iz wurth more tu a man,
than enny quantity of brains.

HENRY SHAW (1818–1885), JOSH BILLINGS

Constipation is the difficult passage of small hard stools. The Rome III criteria define it has
having two or more of the following, for at least 12 weeks:

infrequent passage of stools <3/week

passage of lumpy or hard stools at least 25% of time

straining >25% of time

sensation of incomplete evacuation >25% of time

FIGURE 31.1 Causes of chronic constipation
use of manual manoeuvres >25% of time

sensation of anorectal obstruction/blockage >25% of time Key facts and checkpoints

Accordingly it affects more than 1 in 5 in the population.1 The survey showed 10% of adults and 6% of children reported constipation in the
preceding 2 weeks.1
However, the clinical emphasis should be on the consistency of the stool rather than on the
frequency of defecation; for example, a person passing a hard stool with difficulty once or twice
Up to 20% of British adults regularly take laxatives.2
a day is regarded as constipated, but the person who passes a soft stool comfortably every two or
three days does not require any diagnosis. Various causes of chronic constipation are Constipation from infancy may be due to Hirschsprung disorder.
summarised in FIGURE 31.1 . Page 374
Diet is the single most important factor in preventing constipation.

Beware of recent-onset constipation in the middle-aged and the elderly.

Bleeding suggests cancer, haemorrhoids, diverticular disorder and inflammatory

bowel disease.

Always examine the abdomen and rectum.

 Plain abdominal X-rays are generally not useful in the diagnosis of chronic Chagas disease
constipation. neuromuscular, e.g. systemic sclerosis
The flexible sigmoidoscope examines the lower bowel in detail. Seven masquerades checklist

Intractable constipation (obstipation) is a challenge at both ends of the age Depression

spectrum but improved agents have helped with management. Diabetes (autonomic neuropathy)
Drugs (TABLE 31.2 )
Thyroid disorder (hypo); hyperparathyroidism
A diagnostic approach Spinal dysfunction (severe only)
Is the patient trying to tell me something?
Using the diagnostic strategy model (see TABLE 31.1 ), the five self-posed questions can be May be functional (e.g. depression, anorexia nervosa).
answered as follows.

Table 31.1 Chronic constipation: diagnostic strategy model Probability diagnosis

Probability diagnosis The commonest is ‘idiopathic’ constipation where there is no structural or systemic disease. This
is also referred to as ‘functional’ constipation.
Functional constipation3
primary—slow transit, dyssynergic defecation Probably the most frequent single factor causing constipation in Western society is deficiency in
lifestyle—diet, low fluids, bad habits dietary fibre, including fruit, green leafy vegetables and wholemeal products. The amount of
fibre in our diet is directly related to stool weight and to colonic transit time. The average colonic
Serious disorders not to be missed transit time in the large bowel for Westerners is 60 hours; for a rural African on a very high-fibre
diet it is 30 hours. Other compounding factors are dehydration, lack of physical activity and
Intrinsic neoplasia: colon, rectum or anus, especially colon cancer
inappropriate bowel habits. Constipation is also a common problem in pregnancy.
Extrinsic malignancy (e.g. lymphoma, ovary)
Hirschsprung (children) Serious disorders not to be missed
Pitfalls (often missed)
Impacted faeces
Neoplasia
Local anal lesions, e.g. fissure, haemorrhoids It is obvious that colonic or anorectal neoplasms must not be missed, especially in a middle-aged
Drug/purgative abuse or elderly person presenting with constipation or change in bowel habit. Undetected neoplasias
Hypokalaemia eventually present with bowel obstruction (complete or incomplete).
Depressive illness
Extrinsic malignancy, such as lymphoma or ovarian cancer, compressing or invading the rectum
Acquired megacolon also has to be considered. Cancer of the large bowel is prevalent in our society and those aged
Diverticular disease 50–74 years should be strongly encouraged to participate in the National Bowel Cancer
Stricture, e.g. Crohn disease Screening Program.
Rarities:
Megacolon
lead poisoning
hypercalcaemia In children it is important to detect the presence of megacolon, for example, megacolon
hyperparathyroidism secondary to Hirschsprung disorder. Symptoms dating from birth suggest Hirschsprung disorder,
dolichocolon (large colon)/megarectum which occasionally may present for the first time in adult life.
Neurological disorders In a busy practice be careful not to let ‘familiarity breed contempt’ (e.g. onset of
hyperparathyroidism, cancer).
Constipation, often with faecal impaction, is a common accompaniment to paraplegia, multiple
sclerosis, cerebral palsy and autonomic neuropathy. A normal rectal examination does not exclude cancer.

Alarm symptoms Seven masquerades checklist

Three of the primary masquerades (see TABLE 31.1 ) are important causes of constipation,
Recent constipation in >40 years of age namely drugs, depression and hypothyroidism. Many drugs (see TABLE 31.2 ) may be
associated with constipation, especially codeine and its derivatives, antidepressants, aluminium
Rectal bleeding/haematochezia (fresh blood) and calcium antacids. Cations that constipate include: barium, calcium, aluminium, iron,
bismuth. A careful drug history is thus mandatory, because fortunately the constipation usually
Family history of cancer resolves once the drug is withdrawn. Constipation can be a significant symptom in all types of
depressive illness and may be aggravated by treatment with antidepressants.
Positive FOBT

Table 31.2 Drugs associated with constipation

Pitfalls
Analgesics (inhibitors of prostaglandin synthesis)
The pitfalls can be summarised as follows:
Antacids (containing calcium carbonate or aluminium hydroxide)
impacted faeces Anticholinergic agents, antispasmodics
Antidiarrhoeal agents
depressive illness
Anti-epileptics
purgative abuse Antihistamines (H1-receptor blockers)*
Antiparkinson drugs*
local anal lesions
Antipsychotic drugs,* e.g. clozapine, risperidone
drugs Barbiturates
Barium sulphate
Those with impacted faeces often present with spurious (paradoxical) diarrhoea. This is a form of
Benzodiazepines
idiopathic constipation and is very commonly encountered in general practice, especially in
bedridden elderly people. Calcium-channel blockers (verapamil)
Calcium supplements
Anal pain or stenosis, such as fissure-in-ano, thrombosed haemorrhoids, perianal haematoma or Cholestyramine
ischiorectal abscess, lead to constipation because the person is hesitant to defecate.
Clonidine
Cough mixtures
General pitfalls and tips
Cytotoxic drugs
Ensure the person is truly constipated, and not having unrealistic expectations of regularity. Diuretics that cause hypokalaemia
Gabapentin
Ensure that the anthraquinone group of laxatives, including ‘Ford pills’, is never used long
term because they cause melanosis coli and associated megacolon. Page 375
Ganglionic blocking agents
Heavy metal (especially lead)
Be very wary of alternating constipation and diarrhoea (e.g. colon cancer). 5-HT3-receptor antagonists, e.g. ondansetron
Iron supplements
 Laxatives (chronic use) Have you noticed any blood?
Monoamine oxidase inhibitors
Have you noticed any lumps?
Muscle relaxants
Opioid analgesics (e.g. codeine) Do you have any soiling on your underwear?
SSRIs
How do you feel in yourself?
Tricyclic antidepressants*
What medications are you taking?
*Denotes anticholinergic effect.

The metabolic causes of constipation include hypothyroidism, and the rarer hypercalcaemia and
porphyria.
Diabetes rarely can be associated with constipation when an autonomic neuropathy can lead to
alternating bouts of constipation and diarrhoea.
Page 376
Psychogenic considerations
Constipation may be a manifestation of an underlying functional problem and psychiatric
disorder, such as depression, anorexia nervosa, schizophrenia or drug misuse. Narcotic misuse
must always be considered, and laxatives may cause rebound constipation. More commonly, it
may reflect an inactive lifestyle and provide a good opportunity for appropriate counselling.
Diary
Ask the patient to keep a 10-day diary recording frequency and nature of stools, and whether any
difficulty was experienced when passing stool.
Examination
The important aspects are abdominal palpation and rectal examination. Palpation may reveal the
craggy mass of a neoplasm, faecal retention (especially in the thin patient) or a tender spastic
colon. The perianal region should be examined for localised disease. The patient should be asked
to bear down to demonstrate perianal descent, haemorrhoids or mucosal prolapse. Perianal
sensation and the anal reflex should be tested. Digital rectal examination is mandatory, and may
reveal a rectal tumour and faecal impaction, as well as testing for rectal size and tone. If there is a
history from infancy, a normal or narrow rectum suggests congenital megacolon (Hirschsprung
disorder) but, if dilated, acquired megacolon.

The clinical approach General signs that may be significant in the diagnosis of constipation are summarised in
FIGURE 31.2 .

History
It is important to ask patients to define exactly what they mean by constipation. Some people
believe that just as the earth rotates on its axis once a day, so should their bowels open daily to
ensure good health. As always, a careful history is appropriate, including stool consistency,
frequency, ease of evacuation, pain on defecation and the presence of blood or mucus. A dietary
history is very relevant.

Key questions
How often do you go to the toilet?

What are your bowel motions like?

Are they bulky and hard, like rabbit pellets, or soft?

Is there pain on opening your bowels?

 The finger will reach to about 7–8 cm with gentle thrusting into the perineum.

Examine the whole circumference of the rectum by sweeping the finger from posterior on both
sides.

Points to note

Any pain: fissure, proctitis, excoriation from diarrhoea (a rectal examination will not be
possible in the presence of a fissure)

Induration from a chronic fissure or fistula in the anal canal

The sphincter tone

The nature of the faeces (?impaction)

The rectal wall: cancer is usually indurated, elevated and ulcerated; a villous adenoma has a
soft velvety feel

Posteriorly: the sacrum and coccyx

Laterally: the side walls of the pelvis

Anteriorly: cervix and pouch of Douglas in the female; prostate and rectovesical pouch in the
male
FIGURE 31.2 Possible significant abdominal signs in the patient with
Prostate examination
constipation
It feels larger if the patient has a full bladder.
Rectal examination
The normal prostate is a firm smooth rubbery bilobed structure (with a central sulcus) about 3
The most important first step is to do the examination. cm in diameter.

Method A craggy hard mass suggests cancer.

Explain to the patient what will happen. An enlarged smooth mass suggests benign hypertrophy.

After inspection with the patient in the left lateral position and with knees drawn up, a A tender, nodular or boggy mass suggests prostatitis.
lubricated gloved index finger is placed over the anus.

Part the buttocks.

Practice tip on treatment
Ask the patient to concentrate on slow deep breathing. Before resorting to a good old-fashioned ‘3H’ enema (hot water, high and a hell of a
lot), use a sorbitol compound (e.g. Microlax 5 mL enema). It can be carried in the
With gentle pressure the finger is then inserted slowly into the anal canal and then into the doctor’s bag, is very easy to insert and is most effective.
rectum (it helps patient comfort if they push down or squeeze to accommodate the finger).
Page 377
Rotate the finger anteriorly to feel the prostate in males and the cervix in females.
A common pitfall anal manometry—test anal tone

In the female, the cervix or a vaginal tampon can be mistaken for a mobile extrarectal tumour. rectal sensation and compliance, using an inflatable rectal balloon

Endoscopy dynamic proctography, to determine disorders of defecation

Sigmoidoscopy—in particular, flexible sigmoidoscopy with examination of the rectosigmoid—is rectal biopsy, to determine aganglionia
important in excluding local disease; search for abnormalities such as blood, mucus or neoplasia.
The insufflation of air sometimes reproduces the pain of the irritable bowel syndrome. Idiopathic constipation
It is worth noting that 60% of polyps and cancers will occur in the first 60 cm of the bowel4 and
It is best to classify idiopathic constipation into three subgroups:
diverticular disorder should be evident with the flexible sigmoidoscope.

The presence of melanosis coli is an important sign—it may give a pointer to the duration of the 1 simple constipation
constipation and the consequent chronic intake (perhaps denied) of anthraquinone laxatives.
2 slow transit constipation

Investigations 3 normal transit constipation (irritable bowel syndrome)

These can be summarised as follows: Of these, the commonest is simple constipation, which is essentially related to a faulty diet and
bad habit. Avery Jones,5 who defined the disorder, originally described it as being due to one or
Haematological: more of the following causes:

haemoglobin faulty diet—inadequate dietary fibre

ESR neglect of the call to stool

Stools for occult blood unfavourable living and working conditions

Biochemistry (where suspected): lack of exercise

thyroid function tests travel

serum calcium Dyschezia, or lazy bowel, is the term used to describe a rectum that has become Page 378
unresponsive to faecal content, and this usually follows repeated ignoring of calls to
serum potassium defecate.
carcinoembryonic antigen (a targeted tumour marker rather than a screen) Slow transit constipation occurs primarily in women with an apparently normal colon, despite a
high-fibre intake and lack of the other causes described by Avery Jones. Many are young, with a
Radiological: history dating from early childhood or, more commonly, adolescence. Constipation may follow
childbirth, uncomplicated abdominal surgery or a period of severe dieting. However, in the
CT colonography (virtual colonography)
majority no precipitating cause is evident.
double contrast barium enema (especially for primary colonic disease, e.g. megacolon)
A defecatory disorder is where there is a paradoxical contraction rather than normal relaxation of
bowel transit studies, using radio-opaque shapes taken orally and checking progress by the anal sphincter and associated muscles responsible for evacuation. Also known as dyssynergic
abdominal X-ray or stool collection dysfunction.

Physiological tests: Management

Most patients have simple constipation and require reassurance and education once an organic Table 31.4 Therapeutic agents (laxatives) to treat constipation (with examples)
cause has been excluded. Encourage modification of lifestyle. Provide psychological counselling
and biofeedback for dyssynergic problems.
Hydrophilic bulk-forming agents
Advice to patients
Psyllium mucilloid (Agiofibe, Metamucil)
Adequate exercise, especially walking, is important. Sterculia (Granocol, Normacol)
Develop good habits: answer the call to defecate as soon as possible. Develop the ‘after Ispaghula (Agiolax, Fybogel)
breakfast habit’. Allow time for a good relaxed breakfast and then sit on the toilet. Don’t miss Methylcellulose
meals—food stimulates motility. Wheat bran/dextrin (Benefiber)
Crude fibre (Fibyrax Extra)
Avoid codeine compounds (tablets or mixture).
Stimulant (irritant) laxatives
Take plenty of fluids, especially water and fruit juices (e.g. prune juice).

Eat an optimal bulk diet. Eat foods that provide bulk and roughage, such as vegetables and Sodium picosulfate
salads, cereals (especially wheat fibre), fresh and dried fruits, and wholemeal bread. Enough Anthraquinones: senna (Senokot/Sennetabs), senna with dried fruits (Nu-Lax),
fibre should be taken to convert stools that sink into stools that float. sennosides A and B; cascara
Frangula bark (in Normacol Plus)
Examples of food with good bulk properties are presented in TABLE 31.3 .6 Fruit has good fibre, Castor oil
especially in the skin, and some have natural laxatives (e.g. prunes, figs, rhubarb, apricots).
Triphenylmethanes: bisacodyl (e.g. Dulcolax); picosulfate
Osmotic laxatives
Table 31.3 Foods with bulk-forming properties
(from least to most)
Macrogol 3350 with electrolytes (e.g. Movicol)
Magnesium sulphate (Epsom salts/Colocap Balance)
Potato
Magnesium hydroxide (milk of magnesia)
Banana
Lactulose (several agents)
Cauliflower
Mannitol
Peas
Sodium phosphate mixture
Cabbage
Sorbitol (Sorbilax)
Lettuce
Saline laxatives
Apple
Carrot Stool-softening/lubricating agents
Bran
Liquid paraffin (Agarol)
Docusate—poor evidence of efficacy
Treatment (pharmaceutical preparations) Poloxamer
Glycerin suppositories
Some patients may not tolerate unprocessed bran but tolerate pharmaceutical preparations better Sorbital/sodium compounds (Microlax)
(see TABLE 31.4 ). An appropriate choice would be one of the hydrophilic bulk-forming agents
such as ispaghula or psyllium. Avoid stimulant laxatives except for short sharp treatments. Laxatives in suppository form

Glycerin/glycerol suppository
 Glycerin/glycerol suppository or
Sorbitol sodium compounds (e.g. Fleet Enema)
combined bulking/stimulating agent (e.g. frangula/sterculia [Normacol plus])
Sodium phosphate enema (e.g. Fleet)
Stimulant microenema or suppository (e.g. Bisa-lax) or
Stool-softener microenema (e.g. Enamax)
glycerin suppository (retain for 15–20 minutes)
Prokinetic agent
or
Prucalopride sodium citrate or phosphate enema (e.g. Fleet Enema)

Note: ColonLYTELY used for colonoscopy preparation contains macrogol, sodium sulphate and other mineral salts. or

Microlax enema
First-line therapy7 Page 379

Use a general bulking agent, e.g. psyllium or ispaghula granules 1–2 teaspoons (o) once or twice Constipation in children
daily, or commercial products as per suggested dose.
Constipation is quite common in children and is idiopathic in 95%. The most common factor is
Second-line therapy diet. Constipation often begins after weaning or with the introduction of cow’s milk. It is rare
with breastfeeding. Low fibre intake and a family history of constipation may be associated
Use an osmotic laxative or a fibre-based stimulant preparation, e.g. macrogol 3350 + 1–2 factors.8 Most children develop normal bowel control by 4 years of age (excluding any physical
sachets, each dissolved in 125 mL water once daily abnormality). It is normal to have a bowel movement every 2–3 days, providing it is of not
unusual consistency and is not painful.
or
Constipation usually appears between 2 and 4 years of age, and up to a third of primary school-
lactulose syrup 15–30 mL (o) daily until response, then 10–20 mL daily aged children will report constipation over a 12-month period. In toddlers, the gender
distribution is equal, but by age 5, boys are more likely to get constipation than girls, with the
or frequency of faecal incontinence three times higher in boys. Consider constipation in a child who
has recently recommenced bedwetting.
dried fruits with senna leaf (Nu-Lax) 10 g nocte
Constipation in children is defined as having two or more of the following over the previous 2
or
months:
docusate + senna (50–80 mg), 1–2 tabs nocte
<3 bowel motions per week
Third-line therapy >1 episode of faecal incontinence per week (previously referred to as encopresis)
(Recheck cause.) large stools in rectum or palpable on abdominal examination
Magnesium sulphate 1–2 teaspoons (15 g) in water once or twice daily (if normal kidney retentive posturing (e.g. ‘stiff as a board’ standing/lying, tip toes, crossed legs, braces against
function) furniture) and withholding behaviour (e.g. refuses, hides, requests nappy, denies need to go)
or painful defecation
as capsules (Colocap Balance) 15 caps over 15 minutes Faecal incontinence, which is a consequence of chronic constipation, is the passage of stool in an
inappropriate place in children who have been toilet trained. It can present as soiling (encopresis)
due to faecal retention with overflow of liquid faeces (spurious diarrhoea). times/day for 3–5 minutes, reinforce desired behaviour with stickers on an age-appropriate
chart.
Constipation is nearly always functional (>95%),7 though the GP should check for any red flags
for a pathological cause (see below). The key feature in functional constipation is chronic faecal Introduce psychotherapy or behaviour modification program, especially where ‘fear of the
retention leading to rectal dilatation and insensitivity to the normal defecation reflex. toilet’ exists.

Establish an empty bowel: remove any severely impacted faeces with microenemas (e.g.
Red flag pointers for organic causes in children Microlax), and even disimpaction under anaesthesia if necessary, particularly if faecal ‘rocks’
are visible on X-ray.
Blood in stools Advice for parents of children over 18 months:
Perianal disease Drink ample non-milk fluids each day—several glasses of water, unsweetened fruit juice
(be cautious of cow’s milk).
Fever
Use prune juice, which contains sorbitol.
Weight loss/delayed growth
Get regular exercise—walking, running, outside games or sport.
Delayed meconium/thin strip-like stools
Provide high-fibre foods—high-fibre cereals, wholegrain bread, brown rice, wholemeal
Vomiting pasta, fresh fruit with skins left on where possible, dried fruits such as sultanas, apricots or
prunes, fresh vegetables.
Urinary symptoms (although bedwetting fairly common)
Advice on correct posture and position—‘how to do a poo’:8
Abnormal neurological findings in legs
Feet supported (e.g. with a foot stool)
Medications used for children with behavioural/developmental issues
Knees higher than bottom and apart

Normally the rectum is empty just prior to defecation; with faecal retention, the rectum Page 380 Leaning forward with elbows on knees
is stretched, weak and numb and it can leak.
Encourage child to push out stomach
Other important conditions
Ensure privacy (including at preschool/school)
Hirschsprung disorder:
Laxatives—if constipation has been brief in duration, treat for 3 months, but for chronic
consider if delay in passing first meconium stool and subsequent constipation constipation, treat for 6 months minimum.

Anal fissure in infants: Can use macrogol 3350 (Movicol), paraffin oil or lactulose.

consider if stool hard and associated with pain or bleeding For acute faecal impaction, high-dose laxatives can be used until liquid stools are achieved,
and then revert back to maintenance treatment. Enemas are suitable only for children with
the mainstay of treatment is dietary manipulation acute severe rectal pain or distress and are rarely required.

Principles of treatment of functional constipation7,8 Use a pharmaceutical preparation as a last resort to achieve regularity.

Encourage relaxed child–parent interaction with toilet training, such as appropriate First line6
encouragement, ‘after breakfast habit’ training, regular toileting (where possible), three
Paraffin oil (e.g. Parachoc): RCT evidence indicates suitable and better than stimulant laxative
 or Treatment
osmotic laxative (e.g. lactulose): 1–3 mg/kg Resect narrow segment after preliminary colostomy. Page 381

1–5 years: 10 mL per day

Acquired megacolon
>5 years: 15 mL per day
Clinical features
or
In older children and adults
macrogol 3350 with electrolytes:
Mainly due to bad habit
2–12 years: 1 sachet Movicol-Half in 60 mL water once daily
Can be caused by:
>12 years: 1 sachet Movicol (or 2 Movicol-Half) daily
chronic laxative abuse
Severe constipation/faecal impaction:
milder form of Hirschsprung disorder
consider admission to hospital
Chagas disease (Latin America)2
abdominal X-ray
hypothyroidism (‘cretinism’)
macrogol 3350 with electrolytes (double above doses and water)
systemic sclerosis
Microlax enema
Marked abdominal distension
If unsuccessful, add ColonLYTELY via nasogastric tube or sodium phosphate enema (Fleet
Enema) (not <2 years). Rectal examination—dilate loaded rectum, lax sphincter

Congenital megacolon Hirschsprung disorder Abdominal X-ray/barium enema—distended colon full of faeces but no narrowed segment

(aganglionosis) Treatment
Clinical features Re-education of bowel habit is required.

Constipation and abdominal distension from infancy

Constipation in the elderly
Possible anorexia and vomiting
Constipation is a common problem in the elderly, with a tendency for idiopathic constipation to
Male to female ratio = 8:1 increase with age. In addition, the chances of organic disease increase with age, especially
colorectal cancer, so this problem requires attention in the older patient. Faecal impaction is a
Rectal examination—narrow or normal rectum special problem in the aged confined largely to bed. Constipation is often associated with
Parkinson disease, and various medications. In the elderly, an osmotic laxative such as sorbitol
Abdominal X-ray/barium enema—distended colon full of faeces to narrow rectum or lactulose may be required for longstanding refractory constipation, but avoid stimulant and
other non-osmotic laxatives.
Diagnosis, confirmed by full thickness biopsy, shows absence of ganglion cells

Absent rectoanal reflex on anal manometry Faecal impaction

This is a difficult problem, particularly in the older person who may not be aware of the problem, Lifetime risk
especially if they have spurious diarrhoea. Symptoms include malaise, anorexia and nausea,
confusion, headache, abdominal discomfort ± colic and bloating, a sense of inadequate This is determined by the family history (see TABLE 31.5 ).
defecation and frequent amounts of small stool. Complications include spurious diarrhoea, faecal
incontinence, bowel obstruction, urinary incontinence or retention. It often follows opioid
medication. Confirm with rectal examination ± plain X-ray of abdomen. Treat with oral or Table 31.5 Family history and lifetime risk of colorectal cancer10
osmotic laxatives (e.g. 8 sachets of macrogol 3350 for 3 days with or without rectal
suppositories) or enema, e.g. Fleet Enema, Microlax.
Family history Lifetime risk
Manual disimpaction None: population risk 1:50

If manual disimpaction should be necessary, the unpleasant procedure can be rendered virtually One first-degree relative >45 years 1:17
odourless if the products are ‘milked’ or scooped directly into a container of water. A large One first-degree relative and one second-degree relative 1:12
plastic cover helps restrict the permeation of the smell.
One first-degree relative <45 years 1:10
Discomfort and embarrassment are reduced by this method and by adequate premedication (e.g. Two first-degree relatives (any age) 1:6
IV midazolam and IV fentanyl) if large faecaliths are present.
Hereditary non-polyposis colon cancer 1:2
Familial adenomatous polyposis 1:1
Colorectal cancer
General features
Consider referral to a familial cancer clinic for assessment.
Commonest GIT malignancy: mainly adenocarcinoma
Symptoms
Second most common cause of death from cancer in Western society
Blood in the stools Page 382
Generally men over 50 years (90% of all cases)
Mucus discharge
Mortality rate about 30% in the 5 years9 after diagnosis
Recent change in bowel habits (constipation more common than diarrhoea)
Good prognosis if diagnosed while localised (5-year mortality 10%)
Alternating constipation with spurious diarrhoea
Two-thirds in descending colon and rectum
Bowel leakage when flatus passed
Refer to section on genetics of colorectal cancer (see CHAPTER 23 ).
Unsatisfactory defecation (the mass is interpreted as faeces)
Predisposing factors Abdominal pain (colicky) or discomfort (if obstructing)
Ulcerative colitis (longstanding)
Rectal discomfort
Familial: familial adenomatous polyposis (FAP), hereditary non-polyposis colorectal cancer Symptoms of anaemia
Colonic adenomata Rectal examination—this is appropriate because many cancers are found in the lowest 12 cm
and most can be reached by the examining finger
Decreased dietary fibre

Age >50 years Obstruction (distension with ↑ pain)

If obstructing, there is a risk of rupture of the caecum.
Surgery is needed to circumvent the closed loop obstruction.
Spread
Lymphatics → epigastric and para-aortic nodes
Direct → peritoneum
Blood → portal circulation
Various forms of presentation of large bowel cancers are shown in FIGURE 31.3
Ultrasonography and CT scanning not useful in primary diagnosis; valuable in detecting
spread, especially hepatic metastases
PET-CT scanning (if available) is useful for follow-up
Consider defecography
If FOBT is positive—investigate by colonoscopy or by flexible sigmoidoscopy.
Screening11
An FOBT every 2 years is now recommended for all people from 50–74 years (see guidelines in
. CHAPTER 6 ). FOBT is safer, cheaper and more convenient than colonoscopy. Do not use the
CEA blood test as a screening tool.

Colonoscopy as screening is only recommended in 2% of the population, as follows:

Moderate risk (family history category 2): 2 yearly FOBT from 40–49, then colonoscopy
every five years from 50–74 years.

High risk (family history category 3): 2 yearly FOBT from 35–44, then colonoscopy every 5
years from 45–74 years.11

In addition, flexible sigmoidoscopy and rectal biopsy for those with ulcerative colitis. Page 383
Refer to a bowel cancer specialist to plan appropriate surveillance.

Management
Early surgical excision is the treatment, with the method depending on the site and extent of the
cancer. Dukes classification gives a guide to prognosis (see TABLE 31.6 ). The survival rates for
Dukes C cancer have improved with more effective chemotherapy.
FIGURE 31.3 Various forms of presentation of large bowel cancer
Table 31.6 Modified Dukes classification of colorectal cancer
Investigations
FOBT: immunochemical tests (e.g. Inform and InSure) do not require dietary or medication Stage Pathologic description Approx. treated 5-year survival
restriction %*
Colonoscopy ± biopsy A Cancer limited to mucosa and 95
submucosa
CT colonography (investigation of choice) B Cancer extends into muscularis or 75–85
serosa
Serum CEA level is not useful for diagnosis but is useful for monitoring response to treatment
C Cancer involves regional lymph nodes 26–46
Sigmoidoscopy, especially flexible sigmoidoscopy
D Distant metastases (e.g. liver) 7
Double contrast barium enema may miss tumours and is being superseded by other imaging
*Percentage ranges cover several studies
Note: Overall survival over 70%11 Page 384

Practice tips
Staging and prognosis are outlined in FIGURE 31.4 . There are other classifications for staging
of colorectal cancer, including the 0, I, II, III, IV system.
The objectives of treatment should be to exclude organic disease and then
reassure and re-educate the patient about normal bowel function.

Discourage long-term use of laxatives, suppositories and microenemas.

The laxatives to discourage should include anthraquinone derivatives, bisacodyl,

phenolphthalein, magnesium salts, castor oil and mineral oils.

First-line treatment of functional constipation (unresponsive to simple measures)

is a bulking agent. An osmotic laxative is good second-line therapy.

Bleeding with constipation indicates associated organic illness—exclude bowel

cancer. Bright red blood usually means haemorrhoids.

Beware of hypokalaemia causing constipation in the older person on diuretic

treatment.

If cancer can be felt on rectal examination, an abdominal perineal procedure with

colostomy usually follows; if not, an anterior resection is generally the rule.

Patient education resources

Hand-out sheets from Murtagh’s Patient Education 8th edition:
FIGURE 31.4 Staging (TNM system) and prognosis for patients with colorectal
cancer Bowel cancer

Follow-up includes: Constipation

CEA antigen References

colonoscopy
1 Rome Foundation. Rome III diagnostic criteria for functional gastroenterological
abdominal imaging: ultrasound or CT scan of liver disorders. J Gastrointestinal Liver Disease, 2006; 15(3): 307–12.

2 Tack J et al. Diagnosis and treatment of chronic constipation: a European perspective.

When to refer 4
Neurogastroenterol Motil, 2011 Aug; 23(8): 697–710.

Patients with constipation or change in bowel habit of recent onset without obvious cause need 3 Gibson P. Constipation. In: Monash University, 2012 update course proceedings.
further investigation.
4 Bolin T. Constipation. In: MIMS Disease Index (2nd edn). Sydney: IMS Publishing, 1996:
Those with chronic symptoms who do not respond to simple measures should be referred. 127–9.
 5 Barton S, ed. Clinical Evidence. London: BMJ Publishing Group, 2001: 231–5.
Page 385
6 Functional gastrointestinal disorders [published 2016]. In: Therapeutic Guidelines
[digital]. Melbourne: Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed
September 2017.

7 Tabber MM et al. Evaluation and treatment of functional constipation in infants and

children: evidence-based recommendations from ESPGHAN and NASPGHAN. J
32 Cough
Paediatric Gastroenterial Nutrition, 2014; 58(2): 258–70.

8 Guree A, Rimer R, Marks M. In: Paediatric Handbook (9th edn). Oxford: Wiley
Blackwell, 2015: 98–101.
I bounded into bed. The bound made me cough—I spat—it tasted strange—it was bright red
9 Cancer Australia. Bowel cancer (colorectal cancer) in Australia statisitics [20 October
blood—I don’t want to find this is real consumption—I shan’t have my work written. That’s what
2020]. Bowel cancer. Australian Government. Available from:
matters. How unbearable it would be to die—nothing real finished.
https://www.canceraustralia.gov.au/affected-cancer/cancer-types/bowel-cancer/bowel-
cancer-colorectal-cancer-australia-statistics, accessed March 2021.
KATHERINE MANSFIELD (1888–1923), DIARY ENTRY 1918
10 Avery Jones F, Godding FW. Management of Constipation. Oxford: Blackwell Scientific
Publications, 1972: 16. Cough is one of the five most common symptoms presenting in family practice. There is a wide
range of causes (see TABLE 32.1 ) with the great majority being minor and self-limiting,
11 Royal Australian College of General Practitioners. Guidelines for preventive activities in although the possibility of serious causes such as bronchial carcinoma should always be kept in
general practice (9th edn). East Melbourne, VIC: RACGP, 2016. mind. It can be non-productive (dry) or productive (with phlegm or sputum).

Table 32.1 Significant causes of cough

Non-productive (dry cough)

Upper respiratory tract infection
Lower respiratory tract infection:
viral
some bacteria (e.g. mycoplasma)
Inhaled irritants:
smoke, dust, fumes
Drugs
Inhaled foreign body
Bronchial neoplasm
Pleurisy
Interstitial lung disorders:
fibrosing alveolitis
extrinsic allergic alveolitis
pneumoconiosis
sarcoidosis
 Tuberculosis and cancer 4% (figures from a UK study).2
Left ventricular failure (esp. nocturnal cough)
Whooping cough (pertussis)
Gastro-oesophageal reflux and hiatus hernia A diagnostic approach
Chronic rhinosinusitis (and postnasal drip)
Obstructive sleep apnoea A summary of the diagnostic strategy model is presented in TABLE 32.2 .
Productive cough Page 386
Chronic bronchitis Table 32.2 Cough: diagnostic strategy model
Bronchiectasis
Pneumonia (especially bacterial) Probability diagnosis
Asthma Upper respiratory infection
Foreign body (later response) Postnasal drip/rhinitis/sinusitis
Bronchial carcinoma (dry or loose) Smoking
Lung abscess Acute bronchitis
Tuberculosis (when cavitating) Chronic bronchitis/COPD
Serious disorders not to be missed
Smokers often have a morning cough with little sputum. Coughing can also be initiated by Cardiovascular:
pleural irritation. It is a reflex that provides an essential protective service. It serves to remove left ventricular failure
substances that may have been accidentally inhaled and removes excess secretions or exudates
Neoplasia:
that may accumulate in the airway.
lung cancer
Severe infections:
Key facts and checkpoints tuberculosis
pneumonia
Cough is the commonest manifestation of lower respiratory tract infection.
influenza
Cough is the cardinal feature of chronic bronchitis. lung abscess
HIV infection
Cough is a feature of asthma with sputum production, especially at night.
SARS (coronavirus)
Cough can have a psychogenic basis. COVID-19 (coronavirus)
Asthma
Cough may persist for many weeks following an acute upper respiratory tract
Cystic fibrosis
infection (URTI) as a result of persisting bronchial inflammation and increased
Inhaled foreign body
airway responsiveness.1
Pneumothorax
Postnasal drip is a common cause of a persistent or chronic cough, especially
Pitfalls (often missed)
causing nocturnal cough due to secretions (mainly from chronic sinusitis) tracking
down the larynx and trachea during sleep. Atypical pneumonias
Gastro-oesophageal reflux (nocturnal)
The commonest causes of haemoptysis are URTI (24%), acute or chronic
Smoking (children/adolescents)
bronchitis (17%), bronchiectasis (13%), TB (10%). Unknown causes totalled 22%
 Bronchiectasis symptomatic
Obstructive sleep apnoea asymptomatic
Whooping cough (pertussis) Chronic bronchitis
Interstitial lung disorders Chronic heart failure
Sarcoidosis Drugs (e.g. ACE inhibitors, beta blockers, salazopyrin)
Seven masquerades checklist Snoring and obstructive sleep apnoea
Irritants: occupational and household
Drugs (several, e.g. ACE inhibitors)
Smoker’s cough
Is the patient trying to tell me something? Whooping cough (pertussis)
Anxiety and habit Habit
Chronic cough may become self-perpetuating due to larynx irritation Functional
Idiopathic
Abnormal chest X-ray
Probability diagnosis
Bronchiectasis
The most common cause of cough is an acute respiratory infection, whether a URTI or acute Cancer: bronchial, larynx
bronchitis.3 Persistent coughing with a URTI is usually due to the development of sinusitis with Cardiac failure
a postnasal drip.
COPD
Chronic bronchitis is also a common cause of cough. Cystic fibrosis
Inhaled foreign body
Serious disorders not to be missed Interstitial lung disorders (e.g. sarcoidosis)
Tuberculosis
Bronchial carcinoma must not be overlooked. A worsening cough is the commonest presenting
problem. A bovine cough is suggestive of cancer: the explosive nature of a normal cough is lost
*top three
when laryngeal paralysis is present, usually resulting from bronchial carcinoma infiltrating the
left recurrent laryngeal nerve.

Careful but tactful questioning in relation to IV drug use, sexual practice and previous blood The possibility of a foreign body should always be kept in mind, especially in children, and
severe infections such as TB and pulmonary abscess must not be misdiagnosed.
transfusions is important. Chronic cough may be the first presentation of Pneumocystis jiroveci
pneumonia in an HIV-infected person. Important causes of a chronic cough are summarised in
TABLE 32.3 .
Red flag pointers for cough
Table 32.3 Some causes of chronic cough2,4,5 Age >50 years

Smoking history
Normal chest X-ray (includes most causes)
Asbestos exposure history
Chronic postnasal drip*
Asthma* Persistent cough
Asthma + postnasal drip
Postinfective bronchial hyper-responsiveness Overseas travel
Gastro-oesophageal reflux:*
 TB exposure
Haemoptysis
Unexplained weight loss
Dyspnoea
Fever
It is also important not to overlook asthma in which a nocturnal cough, without Page 387
wheezing, is a feature in children.
Pitfalls
Causes that tend to be overlooked, especially in the presence of a normal X-ray, are gastro-
oesophageal reflux, postnasal drip and asthma. Gastro-oesophageal reflux is more common as a
cause of reflex coughing, especially at night, than appreciated. However, do not use PPIs in the
absence of suggestive GORD symptoms.5 Whooping cough, especially immunisation-modified,
can be difficult to diagnose, particularly if the characteristic whoop is absent.
General pitfalls
Attributing cough due to bronchial carcinoma in a smoker to ‘smoker’s cough’
Overlooking TB, especially in the elderly, by attributing symptoms to old age, bronchitis or
smoking
Overlooking the fact that bronchial carcinoma can develop in a person with other pulmonary
conditions, such as chronic bronchitis
Being slow to order a chest X-ray
Failing to recognise that pertussis presents in adults
Seven masquerades checklist
The applicable masquerade is drugs, many of which can produce a wide variety of disorders of
the respiratory tract that cause a cough. Pulmonary infiltration with fibrosis may result from
some cytotoxic drugs, especially bleomycin. Over 20 different drugs are known to produce an
SLE-like syndrome, sometimes complicated by pulmonary infiltrates and fibrosis. Cough can be
a feature of some of the ACE inhibitors and beta blockers, inhaled steroids and sulfasalazine.
Psychogenic considerations
A cough can occur for psychosocial reasons. Coughing is under cerebral control and a slight
cough before commencing a speech is normal and presumably assists in clearing mucus from
around the vocal cords.6 This can readily become a nervous habit or mannerism. A typical
‘psychogenic’ cough is barking in quality—the ‘Cape Barren goose’ cough. It does not occur
during sleep.
The clinical approach
History
The nature of the cough may provide important diagnostic clues, but it is the associated
symptoms, such as the nature of the sputum, breathlessness, wheezing and constitutional
symptoms, that provide the most helpful diagnostic value. A diagnosis of asthma should not be
made if the predominant symptom is cough without airflow limitation such as wheeze. A history
of smoking habits, past and present, is essential and an occupational and hobby history requires
investigation. Significant occupations (past or present) include mining (pneumoconiosis), aircraft
manufacturing (asbestosis and mesothelioma), farming (‘farmer’s lung’—allergic pneumonitis
from mouldy hay) and bird handling (‘bird fancier’s lung’—allergic alveolitis or psittacosis from
pigeons or budgerigars). A past history of recurrent lung infections from childhood is suggestive
of cystic fibrosis and bronchiectasis, a history of hay fever and eczema suggests asthma, while a
family history involves asthma, cystic fibrosis, emphysema (α1-antitrypsin deficiency) and
tuberculosis.
Key questions7
How would you describe the cough?
How long has the cough been present?
Do you cough up sputum?
Describe the sputum, especially its colour.
Is there any blood in the sputum?
How much sputum do you produce—a teaspoon, an eggcup or more?
Is there a burning sensation in your throat or chest when you cough?
Have you noticed any other symptoms?
What about chest pain, or fever, shivers or sweats?
Do you have a wheeze?
Have you had previous attacks of wheezing or hay fever?
 Is there a history of asthma in your family? radiology:

Have you lost weight? plain chest X-ray (shows many problems)

Has anyone in the family had TB or a persistent cough? helical CT scan: helps more precise localisation of lesion, may show cavitation

How much do you smoke? CT pulmonary angiogram

Are you exposed to any smoke or fumes? bronchography: shows bronchiectasis (a very unpleasant procedure)

What kind of work do you do, now and in the past? ventilation/perfusion isotope scan: for pulmonary infarction

Is there a chance you have been exposed to asbestos? echocardiogram (pulmonary hypertension)

Do you keep birds or pets at home? skin tests

Do you have any birds (e.g. pigeons) nesting outside your bedroom? lung biopsy

Is there a possibility of a foreign body such as a peanut ‘having gone down the wrong way’? bronchoscopy (best at time of haemoptysis)

Have you had an operation recently or been confined to bed? However, all that is needed initially is a plain chest X-ray.

Have you noticed any swelling of your legs? Diagnostic characteristics

Page 388 There are important characteristics of cough that may point to the causation. TABLE 32.1
Examination compares typical causes of dry and productive cough.

Physical examination includes a general examination with a search for features such as enlarged Character of the cough
cervical or axillary glands, which may indicate bronchial carcinoma, as would Horner syndrome
(constricted pupil, ptosis). A careful examination of the lungs and cardiovascular system is also Brassy → tracheitis and bronchitis (major bronchi); extrinsic pressure on trachea (e.g. tumour)
appropriate. Fine crackles on auscultation indicate pulmonary oedema or heart failure, interstitial
pulmonary fibrosis and early lobar pneumonia, while coarse crackles indicate resolving Barking → laryngeal disorders (e.g. laryngitis)
pneumonia, bronchiectasis and TB. Careful inspection of the sputum forms an important part of
Croupy (with stridor) → laryngeal disorders (e.g. laryngitis, croup)
the physical examination of the lungs. This should include its colour and consistency, presence
of particulate matter and a 24-hour sputum watch.
Hollow ‘bovine’ (no power) → vocal cord paralysis (left-recurrent laryngeal nerve)

Investigations Weak cough → indicates bronchial carcinoma

This applies particularly to those with haemoptysis. Possible investigations include:8 Paroxysmal with whoops → whooping cough

haemoglobin, blood film and white cell count Painful → tracheitis; left ventricular failure

sputum cytology and culture Dry chronic → GORD, drugs (e.g. ACEI)

ESR (elevated with bacterial infection, bronchiectasis, TB, lung abscess and bronchial Timing
carcinoma), CRP
Nocturnal cough →
pulmonary function tests/spirometry
 asthma A healthy, non-smoking individual produces approximately 100–150 mL of mucus a day. This
normal bronchial secretion is swept up the airways towards the trachea by the mucociliary
left ventricular failure clearance mechanism and is usually swallowed. The removal from the trachea is assisted also by
occasional coughing, although this is carried out almost subconsciously.6
postnasal drip
Excess mucus is expectorated as sputum. The commonest cause of excess mucus production is
chronic bronchitis cigarette smoking. Mucoid sputum is clear and white.
whooping cough
Character of sputum
Waking cough →
Clear white (mucoid) → normal or uninfected bronchitis
bronchiectasis, asthma
Yellow or green (purulent) → due to cellular material (neutrophils or eosinophil granulocytes)
chronic bronchitis
± infection (not necessarily bacterial infection) Page 389
GORD
asthma due to eosinophils
habitual
bronchiectasis (copious quantities)
Associations Rusty → lobar pneumonia (S. pneumoniae): due to blood
Changing posture → Thick and sticky → asthma
bronchiectasis Profuse, watery → alveolar cell carcinoma
lung abscess Thin, clear mucoid → viral infection
Meals → Redcurrant jelly → bronchial carcinoma
hiatus hernia (possible) Profuse and offensive → bronchiectasis; lung abscess
oesophageal diverticulum Thick plugs (cast-like) → allergic bronchopulmonary Aspergillus; bronchial carcinoma
tracheo-oesophageal fistula Pink frothy sputum → pulmonary oedema
Wheezing →
Haemoptysis
asthma
Bloodstained sputum (haemoptysis), which varies from small flecks of blood to massive
Breathlessness → bleeding, requires thorough investigation. Always consider malignancy or TB. Often the
diagnosis can be made by chest X-ray. Causes are presented in TABLE 32.4 . Haemoptysis must
asthma be distinguished from blood-stained saliva caused by nasopharyngeal bleeding or sinusitis and
also from haematemesis.6 Acute bronchitis produces streaky haemoptysis.
left ventricular failure

COPD Table 32.4 Haemoptysis (adults): diagnostic

strategy model
Sputum
 Weak or ineffective cough affects ability to clear lower respiratory tract secretions, predisposing
Probability diagnosis
to more serious infection, particularly lower lobe pneumonia. Causes include chest wall or
Acute chest infection: abdominal pain/injury, chest wall deformity, decreased cough strength and central respiratory
URTI (24%) depression.
bronchitis
Chronic bronchitis Productive cough
Trauma: chest contusion, prolonged coughing
Cause often unknown (22%) Chronic bronchitis: mucoid or purulent; rarely exceeds 250 mL per day6
Serious disorders not to be missed Bronchiectasis: purulent sputum; up to 500 mL/day
Vascular:
Asthma: mucoid or purulent; tenacious sputum
pulmonary infarction/embolus
LHF → pulmonary oedema Lung abscess: purulent and foul-smelling
mitral stenosis
pulmonary hypertension Foreign body: can follow impaction
AV malformation
Infection: Cough in children3
lobar pneumonia (rusty sputum)
Cough in children is a very common symptom, but troublesome persistent cough is a great cause
tuberculosis
of anxiety among parents and probably the commonest symptom for which the family doctor is
lung abscess consulted. Age-related causes of chronic cough (present at least 4 weeks) are presented in
Cancer/tumour (4%): TABLE 32.5 . Most children with chronic cough do NOT have asthma. A chest X-ray is
bronchogenic carcinoma advisable for a persistent cough. Page 390

tumour of the larynx or trachea

Other: Table 32.5 Age related causes of chronic cough in children (to
blood disorders including anticoagulants
consider)9
cystic fibrosis
Pitfalls (often missed) Infants
Foreign body Congenital/structural abnormalities, e.g. tracheao-esophageal fistula
Bronchiectasis (13%) Milk inhalation/reflux
Iatrogenic (e.g. endotracheal intubation) Household smoke exposure
Goodpasture syndrome or other vasculitides
Toddler/preschool
Spurious haemoptysis (blood from nose or throat)
Factitious (e.g. Munchausen syndrome) Foreign body inhalation
Asthma
Note: Haemoptysis must be distinguished from bloodstained saliva caused by nasopharyngeal bleeding or sinusitis, also haematemesis.6 Copious
Viral induced wheeze
haemoptysis is due to bronchiectasis or TB. Bronchiolitis/bronchitis
Whooping cough
Cystic fibrosis
Impaired cough Croup
 Older children worthwhile.
Asthma
Acute or chronic bronchitis Psychogenic causes
Chronic rhinitis
Habit cough can occur in children, especially those with a history of school phobia. The cough
Smoke exposure does not occur during sleep and remains unchanged with exertion or infection.
Atypical pneumonia
Adolescents Croup (laryngotracheobronchitis)
Asthma
Clinical features
Smoking/other inhalants
Psychogenic Characteristic harsh barking inspiratory cough with stridor

Prodrome of URTI for 2 days

Common causes of cough generally are: Sounds like a dog barking or a seal
asthma Children 6 months to 6 years
recurrent viral bronchitis Fever variable (rarely >39°)
acute URTIs Usually 11 pm to 2 am
allergic rhinitis Auscultation confirms inspiratory stridor
croup Occurs in small local epidemics
Disorders not to be missed are: Management—refer to CHAPTER 89 .
asthma
Pneumonia in children
cystic fibrosis

inhaled foreign body Clinical features

tracheo-oesophageal fistula Tachypnoea, expiratory grunt

pneumonia Possible focal chest signs

whooping cough Diagnosis often only made by chest X-ray

Several clinicians describe the catarrhal child syndrome as the commonest cause of chronic Pathogens
cough.3 This refers to children who develop a postnasal drip following acute respiratory infection
and allergic rhinitis. Recurrent cough in children can usually be explained by recurrent viral Viruses are the most common cause in infants.
respiratory infections which commonly occur when first exposed to other children. Their airways
tend to be overactive. There is a slight predisposition to asthma. Mycoplasma is common in children over 5 years.

If asthma is suspected, a therapeutic trial of salbutamol 200 mcg 4 hourly via a spacer may be S. pneumoniae is a cause in all age groups.
 Pathogens are difficult to isolate—may need blood culture. Both groups:

Treatment SaO2 ≤92%

Depends on age and tropical vs non-tropical. Almost all those under 48 months should be Cyanosis
admitted to hospital. Indicators for hospital admission are shown in the box.
Difficulty breathing
Minimal handling
Family/social issues
Careful observations including pulse oximetry

Attend to hydration Page 391

Antibiotics indicated in all cases, even though many are viral. Refer to Therapeutic Guidelines
for various age groups, tropical regions and specific confirmed bacterial species. A simplified
overview follows:
Mild to moderate:
amoxicillin 25 mg/kg up to 1 g orally, 8 hourly for 3 days (mild) or 5–7 days (moderate)
plus (if atypical bacteria suspected)
Cough in the elderly
Important causes of cough to consider in the elderly include chronic bronchitis, lung cancer,
pulmonary infarct (check calves), bronchiectasis and left ventricular failure, in addition to the
acute upper and lower respiratory infections to which they are prone. It is important to be
surveillant for bronchial carcinoma in an older person presenting with cough, bearing in mind
that the incidence rises with age. One study found the causes of chronic cough in the elderly to
be postnasal drip syndrome 48%, gastro-oesophageal reflux 20% and asthma 17%.12

azithromycin or clarithromycin or doxycycline

Common respiratory infections
Severe:10
Respiratory infections, especially those of the upper respiratory tract, are usually regarded as
cefotaxime IV or ceftriaxone IV (if staphylococcus aureus suspected, add clindamycin or trivial, but they account for an estimated one-fifth of all time lost from work and three-fifths of
lincomycin) time lost from school, and are thus of great importance to the community.13 The majority of
respiratory infections are viral in origin and antibiotics are therefore not indicated.
Pneumonia in children: guidelines for hospitalisation11 URTIs are those involving the nasal airways to the larynx, while lower respiratory tract
infections (LRTIs) affect the trachea downwards.
Infants:
Combined URTIs and LRTIs include influenza, measles, whooping cough and
RR > 70 laryngotracheobronchitis.

Intermittent apnoea The common cold (acute coryza)

Not feeding
This highly infectious URTI, which is often mistakenly referred to as ‘the flu’, produces a mild
Older children: systemic upset and prominent nasal symptoms (see FIG. 32.1 ).

RR > 50

Grunting

Signs of dehydration
 drink adequate fluids

stop smoking (if applicable)

analgesics—paracetamol (acetaminophen) or aspirin (max. 8 tablets a day in adults)

steam inhalations for a blocked nose

cough drops or syrup for a dry cough

gargle aspirin in water or lemon juice for a sore throat (avoid aspirin in children <16 years)

vitamin C powder or tablets (e.g. 2 g daily) does not reduce the risk of catching an URTI, but
regular usage may possibly reduce duration—but only if used prophylactically before the
URTI14

clinical trials of zinc lozenges and echinacea have been unpromising15,16

FIGURE 32.1 The main symptoms and complications of the common cold

Clinical features Influenza

24–48 hours of weakness Commonly due to influenza A or influenza B viruses, influenza causes a relatively debilitating
illness and should not be confused with the common cold. The differences are presented in
Malaise and tiredness TABLE 32.6 . The incubation period is usually 1–3 days and the illness commences abruptly
with a fever, headache, shivering and generalised muscle aching (see FIG. 32.2 ). Page 392
Sore, runny nose

Sneezing Table 32.6 Comparison of common cold and influenza

Sore throat
Common cold Influenza
Slight fever Incubation period 12 hours to 5 days 1–3 days
Fever ± ++
Other possible symptoms:
Cough (later) +
headache
Sore throat ++ ±
hoarseness Rhinitis + ± late symptom
sneezing
cough
rhinorrhoea
The watery nasal discharge becomes thick and purulent in about 24 hours and persists for up to a Muscle aches – +
week. Secondary bacterial infection is uncommon.
Toxaemia – ±
Management Causes Rhinoviruses Influenza A
Advice to the patient includes: Parainfluenza Influenza B
Influenza B, C Novel strains influenza A e.g. H5N1
rest—adequate sleep and rest, especially if weak Coronavirus
 RSV Tracheitis, bronchitis, bronchiolitis

Secondary bacterial infection

Diagnosis: Nasal/throat swabs for viral PCR (rapid and best); viral antigen detection or culture.
Pneumonia due to Staphylococcus aureus (mortality up to 20%)1

Toxic cardiomyopathy with sudden death (rare)

Encephalomyelitis (rare)

Depression (a common sequela)

Diagnosis
Nasopharyingeal swabs for PCR or other rapid specific tests

Management
Advice to the patient includes:

rest in bed until the fever subsides and patient feels better

analgesics: paracetamol and aspirin or ibuprofen are effective, especially for fever

fluids: maintain high fluid intake (water and fruit juice)

FIGURE 32.2 The main features of influenza
freshly squeezed lemon juice and honey preparation

Clinical criteria5
Antiviral agents5
During an influenza epidemic:
Neuraminidase inhibitors (cover influenza A and B):
fever >38°C plus at least one respiratory symptom and one systemic symptom
zanamivir (Relenza) 10 mg by inhalation bd for 5 days
cough (dry)
oseltamivir (Tamiflu) 75 mg (o) bd (child 2 mg/kg) for 5 days
sore throat
Both should be commenced within 36 hours of onset and given for 5 days.
coryza
Note: These antiviral agents have questionable benefit in a low-risk population, but treatment for
prostration or weakness vulnerable patients during an epidemic may be appropriate.

myalgia Prevention

headache Influenza vaccination for influenza A and B (recommended annually) offers some protection for
up to 70% of the population for about 12 months.1 (See CHAPTER 6 .) Page 393
rigors or chills

Complications
Coronavirus respiratory infections
Known for the past severe influenza syndromes MERS-CoV and SARS, it has emerged as Antibiotics are not indicated for acute bronchitis
COVID-19. This respiratory illness has had more worldwide impact than any other in the 21st
century, in terms of both individual morbidity and mortality, and the subsequent socioeconomic Chronic bronchitis
effects. Prevention of the spread of this coronavirus is via public health measures (handwashing,
social distancing, personal protective equipment) and a number of novel vaccines. At the time of This is a chronic productive cough for at least 3 successive months in 2 successive years:
writing there is no effective treatment specific to SARS-CoV-2, although various supportive
interventions including medications can reduce the severity for hospitalised patients. Prevention wheeze, progressive dyspnoea
through population vaccination is being addressed.
recurrent exacerbations with acute bronchitis
Bronchitis occurs mainly in smokers

Refer to COPD (in CHAPTER 74 ).

Acute bronchitis
This is acute inflammation of the tracheobronchial tree that usually follows an upper respiratory Pneumonia17
infection. Although generally mild and self-limiting, it may be serious in debilitated patients.
This is inflammation of lung tissue. It usually presents as an acute illness with cough, fever and
Clinical features purulent sputum plus physical signs and X-ray changes of consolidation. It can be broadly
classified as typical or atypical, which are caused by different bacteria, viruses or other
Features of acute infectious bronchitis are: organisms.
cough and sputum (main symptoms) The initial presentation of pneumonia can be misleading, especially when the patient presents
with constitutional symptoms (fever, malaise and headache) rather than respiratory symptoms. A
wheeze and dyspnoea
cough, although usually present, can be relatively insignificant in the total clinical picture. This
usually viral infection diagnostic problem applies particularly to atypical pneumonia but can occur with bacterial
pneumonia, especially lobar pneumonia.
can complicate chronic bronchitis—often due to Haemophilus influenzae and Streptococcus
pneumoniae Community-acquired pneumonia5,11
scattered wheeze on auscultation CAP occurs in people who are not or have not been in hospital recently, and who are not
institutionalised or immunocompromised, i.e. the majority of people in general practice. The
fever or haemoptysis (uncommon) choice of antibiotic is initially empirical. CAP is usually caused by a single organism, especially
Streptococcus pneumoniae, which is demonstrating increasing antibiotic resistance.10 Treatment
Outcome is usually for 5–10 days for most bacterial causes, 2 weeks for Mycoplasma or Chlamydia
infection and 2–3 weeks for Legionella. Viruses are often present in CAP (25–44%), whether as
It improves spontaneously in 4–8 days in healthy patients.
a sole cause or as a predecessor to bacteria.18
Treatment5 Typical pneumonia
Symptomatic treatment
The commonest community-acquired infections are Streptococcus pneumoniae (majority),
Inhaled bronchodilators for airflow limitation Haemophilus influenzae10 (mainly in COPD), M. pneumoniae (young adults) and Klebsiella
pneumoniae.
Distinguish acute bronchitis from bacterial pneumonia and bacterial infective exacerbations of
COPD, where antibiotics are useful Clinical features
 Rapidly ill with high temperature, dry cough, pleuritic pain, rigors or night sweats related to cooling systems in large buildings

1–2 days later may be rusty-coloured sputum incubation 2–10 days

Rapid and shallow breathing follows Diagnostic criteria include:

Examination: focal chest signs, consolidation prodromal influenza-like illness

Investigations: CXR, sputum M&C, oxygen saturation, specific tests/serology, PCR a dry cough, confusion or diarrhoea

Complications: pleural effusion, empyema, lung abscess, respiratory failure very high fever (may be relative bradycardia)

A particular complication of influenza is a streptococcus pneumoniae infection 2–4 weeks lymphopaenia with moderate leucocytosis
later18 Page 394
hyponatraemia
The atypical pneumonias
Patients can become prostrate with complications. Treat with:
Refer to CHAPTER 19 .
azithromycin IV (first line) or erythromycin (IV or oral)
Clinical features plus (if very severe)
Fever without chills, malaise ciprofloxacin or rifampicin
Headache Chlamydia pneumoniae:
Minimal respiratory symptoms, non-productive cough similar to Mycoplasma
Signs of consolidation absent Chlamydia psittaci (psittacosis):
Chest X-ray (diffuse infiltration) worse than chest signs treat with doxycycline, roxithromycin or erythromycin

Causes Coxiella burnetti (Q fever):

Virus, e.g. influenza treat with doxycycline 200 mg (o) statim, then 100 mg daily for 14 days

Mycoplasma pneumoniae—the commonest:

Antibiotic treatment according to severity5,13
adolescents and young adults
This is usually empirical ± ‘tools’ such as CORB.
treat with:
Mild pneumonia
roxithromycin 300 mg (o) daily
This does not require hospitalisation.
or
Amoxicillin 1 g 8 hourly for 5–7 days
doxycycline 100 mg bd for 14 days
plus (if atypical pneumonia suspected, or suboptimal improvement in 2 days)
Legionella pneumophila (legionnaire disease):
doxycycline 100 mg bd for 5–7 days
Moderately severe pneumonia plus

This requires hospitalisation (see Guidelines box for severe pneumonia and hospital admission). azithromycin 500 mg IV daily (covers Mycoplasma, Chlamydia and Legionella)
Monitor with CXR; oximeter (keep O2 saturation ≥94%).
add
Neonates
flucloxacillin for Staphylococcus aureus Page 395

Age over 65 years

Coexisting illness
Guidelines for severe pneumonia and hospital admission in
adults: the red flags
High temperature: >38°C

Clinical features of severe pneumonia Altered mental state/acute onset confusion

Rapidly deteriorating course

Involvement of more than one lobe

Inability to tolerate oral therapy Respiratory rate >30 per minute

benzylpenicillin 1.2 g IV 4–6 hourly for 7 days (switch to oral amoxicillin when improved) Pulse rate >100 per minute

or BP <90/60 mmHg

CORB ≥2
procaine penicillin 1.5 g IM daily (drugs of choice for S. pneumoniae) plus doxycycline

or Hypoxia PaO2 <60 mmHg or O2 saturation <92%

ceftriaxone 1 g IV daily for 7 days (in penicillin-allergic patient) Leucocytes <4 × 108L or >20 × 109/L

If not so severe and oral medication tolerated, can use amoxicillin/clavulanate or cefaclor or Multilobular involvement on CXR
doxycycline

In tropical regions use a different regimen (refer to Therapeutic Guidelines)

If atypical pneumonia, use doxycycline, erythromycin, roxithromycin or clarithromycin
Severe pneumonia
The criteria for severity (with increased risk of death) are presented in the box on Guidelines for
severe pneumonia and hospital admission.11,17 The CORB score indicates severity (Confusion,
Hypoxia pO2<90%, Respiratory rate ≥30/min, BP <90/60 mmHg, Age ≥65).19
cefotaxime 1 g IV 8 hourly
or
Chronic persistent cough
A cough associated with a viral respiratory infection should last no more than 2 weeks. If it does,
it is termed persistent. A cough lasting 2 months or more is defined as a chronic cough. A cough
that lasts longer than 3–4 weeks requires scrutiny. TABLE 32.3 includes some causes of chronic
cough.
A chronic cough can be divided into productive and non-productive. The presence of purulent
sputum increases the probability of a bacterial infection in the bronchi and/or sinuses.4 The main
organisms are Haemophilus influenzae (the most common), S. pneumoniae and Moraxella. Such
infections are most susceptible to amoxicillin or amoxicillin/clavulanate or parenteral
cephalosporins.

ceftriaxone 1 g IV daily
Non-productive cough
Some of the many causes of a non-productive cough are included in TABLE 32.1 and more than If symptomatic—usually advanced and not resectable
one may be operative simultaneously; for example, an allergic snorer with oesophageal reflux
taking an ACE inhibitor for hypertension may have a viral respiratory infection.4 It has been Local symptoms
shown that a non-productive or irritating cough is usually caused by persistent stimulation of
irritant receptors in the trachea and major bronchi, and may result in the production of small Cough (early) (42%)
amounts of mucoid sputum.
Chest pain (22%)
Investigations to be considered in intractable chronic cough include a chest X-ray, spirometry,
CT scan of the thorax (searching in particular for a tumour) and ambulatory oesophageal pH Wheeze (15%)
monitoring.
Haemoptysis (7%)
If symptoms suggest possible asthma, a trial of inhaled corticosteroids can be used for 2–4
Dyspnoea (5%)
weeks.5
General
Gastro-oesophageal reflux
Anorexia, malaise
This common condition can cause a persistent, non-productive cough in an apparently well
person with a history of reflux. In the absence of evidence of aspiration, the cough is considered Weight loss—unexplained
to be due to stimulation of a distal oesophageal-tracheobronchial reflex. Other studies have
established a relationship between bronchial asthma and reflux or swallowing disorders whereby Page 396
microaspiration can initiate an inflammatory response in the airways. Others

If reflux is proven or suspected, there is good evidence for diet and weight loss (if achieved) Unresolved chest infection
improving the cough, but unfortunately no trial evidence supporting PPIs when used in isolation
for GORD-related cough.20 However, it is reasonable to trial a PPI for 8–12 weeks, along with Hoarseness
dietary advice.
Symptoms from metastases
For those with idiopathic chronic cough who remain well with no other health concerns, do not
dismiss them as ‘just a cough’. Encourage them to avoid cold air, smoke and other The possible physical findings are summarised in FIGURE 32.3.
environmental triggers. Discourage habitual throat clearing and voice overuse—consider referral
to a speech pathologist or ‘cough clinic’.

Bronchial carcinoma
Lung cancer accounts for 25% of cancer deaths in men and 24% of cancer deaths in women
(rapidly rising), with cigarette smoking being the most common cause of lung cancer in both
sexes.13 It is also the most common lethal cancer in both sexes in Australia. Bronchial carcinoma
accounts for over 95% of primary lung malignancies. The prognosis is poor—the 5-year overall
survival is 17%.21 The mesothelioma incidence continues to rise.

Clinical features
Most present between 50 and 70 years (mean 67 years)

Nearly all (>90%) are already symptomatic at the time of diagnosis22

 Tissue diagnosis where possible

Note: There is no current recommendation to screen asymptomatic people for lung cancer by any
modality, including CXR or low-dose CT chest.23

Causes of a solitary pulmonary nodule on X-ray are presented in TABLE 32.7 . Page 397

Table 32.7 Causes of a solitary pulmonary nodule

(on X-ray)24

Common
Bronchial carcinoma
Secondary tumour
Solitary metastasis
Granuloma (e.g. TB)
Hamartoma
Less common
Bronchial adenoma
Foreign body
AVM
Hydatid
Others (e.g. haematoma, cyst, carotid tumour)

Management
FIGURE 32.3 Possible physical findings of bronchial carcinoma Refer to a respiratory physician to determine the type of cancer. They are usually classified as
small cell lung (oat cell) poorly differentiated cancer (about 15% incidence) (SCLC) and non-
Investigations small cell lung cancer (NSCLC), which includes squamous cell carcinoma, adenocarcinoma and
large cell carcinoma (approximately 20–30% of each). The main aim of management is a
Chest X-ray curative resection of NSCLC in those who can benefit from it. Surgery is not an option for SCLC
since it metastasises so rapidly (80% have metastasised at the time of diagnosis).11
Sputum cytology Chemotherapy is suitable for the deadly SCLC but currently only extends life expectancy by a
few months.25 Chemotherapy has an important place in treating NSCLC. The main role of
CT scanning
radiotherapy is palliative.
Fibre-optic bronchoscopy
Mesothelioma
PET scanning
Mesothelioma is a malignant tumour of mesothelial cells usually at the pleura. It is associated
Fluorescence bronchoscopy (helps early detection) with prior asbestos exposure, possibly decades earlier (90% report exposure).
Clinical features include chest pain, dyspnoea, weight loss and recurrent pleural effusions. Cytology: to rule out neoplasia
Diagnosis is based on imaging and on histology after pleural biopsy. Prognosis is poor and
treatment is palliative support. Main pathogens: Haemophilus influenzae (commonest), Streptococcus pneumoniae,
Pseudomonas aeruginosa, Staphylococcus aureus
Bronchiectasis CT scan: can show bronchial wall thickening—high-resolution CT scan is the gold standard
for diagnosis
Bronchiectasis is dilatation of the bronchi when their walls become inflamed, thickened and
irreversibly damaged, usually after obstruction followed by infection. Predisposing causes Spirometry
include whooping cough, measles, TB, inhaled foreign body (e.g. peanuts in children), bronchial
carcinoma, cystic fibrosis and congenital ciliary dysfunction (Kartagener syndrome). Suspect Bronchograms: very unpleasant and used only if diagnosis in doubt or possible localised
immune deficiency in these patients. The left lower lobe and lingula are the commonest sites for disease amenable to surgery (rare)
localised disease. In children, early intervention saves bronchi; refer urgently if suspected.
Management
Clinical features
Explanation and preventive advice. Avoid URTIs, smoking and smoke-filled rooms.
Chronic loose cough—worse on waking
Physiotherapy and exercise program.
Mild cases: yellow or green sputum only after infection
Postural drainage (e.g. lie over side of bed with head and thorax down for 10–20 minutes three
Advanced: times a day).
profuse purulent offensive sputum Antibiotics for acute exacerbations (increased cough and sputum volume/purulence) according
to organism—it is important to eradicate infection to halt the progress of the disease.
persistent halitosis Amoxicillin 500 mg (o) tds for 14 days or doxycycline 200 mg (o) daily (if child ≥8 years) is
recommended for first presentation. Long-term antibiotic therapy should be guided by
recurrent febrile episodes
respiratory specialists.
malaise, weight loss
Bronchodilators, if evidence of bronchospasm.26
Episodes of pneumonia
Page 398
Sputum production related to posture
Tuberculosis
Haemoptysis (bloodstained sputum or massive) possible
Although cough is a feature, pulmonary TB may be symptomless and detected by X-ray
Examination screenings.8 (Refer to CHAPTER 19 .)

Clubbing
Symptomatic treatment of cough5
Coarse crackles over infected areas (usually lung base)
Regardless of whether the underlying cause of the cough is being treated or has no treatment
Other respiratory signs are given in TABLE 38.6 (see CHAPTER 38 ) (e.g. viral URTI), the symptom of coughing can be distressing at all ages, and GPs are frequently
asked to discuss symptomatic relief. Frustratingly, all the many over-the-counter cough remedies
Investigations have either scant or no evidence for efficacy. These include antihistamines, decongestants,
expectorants (e.g. senega with ammonia) and suppressants such as codeine. Cough medicines are
Chest X-ray (normal or bronchial changes) generally not recommended in children.

Sputum examination: for resistant pathogens and to exclude TB Inhaled asthma medications (LABAs, corticosteroids or MART therapy) only work if there is
underlying hyper-responsiveness. Honey has some evidence, particularly in children, and is safe Pneumonia
and easily available. Offer advice around environmental triggers—smoke, dust, pollen, cold air.
Bronchiectasis
When to refer
References
Patients in whom bronchoscopy is necessary to exclude bronchial carcinoma
1 Kumar PJ, Clarke ML. Clinical Medicine (7th edn). London: Elsevier, 2009: 819.
Persistent hoarseness in a patient who requires expert laryngeal examination
2 Walsh TD. Symptom Control. Oxford: Blackwell Scientific Publications, 1989; 81: 81–8,
Evidence of pulmonary TB 235–9.

3 Fitzgerald D. Children with chronic or recurrent cough. Medical Observer, 22 November

Practice tips 2002: 32–3.

Unexplained cough over the age of 50 is bronchial carcinoma until proved 4 Burns M. Chronic cough. Aust Fam Physician, 1996; 25: 161–7.
otherwise (especially if there is a history of smoking).
5 Respiratory [published 2020]. Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Consider TB in the presence of an unusual cough ± wheezing. Guidelines Limited; 2020. www.tg.org.au.

Bronchoscopy is essential to exclude adequately a suspicion of bronchial 6 Kincaid-Smith P, Larkins R, Whelan G. Problems in Clinical Medicine. Sydney:
carcinoma when the chest X-ray is normal. MacLennan & Petty, 1990: 105–8.

Bright red haemoptysis in a young person may be the initial symptom of 7 Davis A, Bolin T, Ham J. Symptom Analysis and Physical Diagnosis (2nd edn). Sydney:
pulmonary TB. Pergamon Press, 1990: 56–60.

Avoid settling for a diagnosis of bronchitis as an explanation of haemoptysis until 8 Gibson PG et al. CICADA: cough in children and adults: diagnosis and assessment.
bronchial carcinoma has been excluded. Australian cough guidelines summary statement. Med J Aust, 2010; 192(5): 265–7.

Coughing may be so severe that it terminates in vomiting or loss of consciousness
(post-tussive syncope).
Large haemoptyses are usually due to bronchiectasis or TB.
The presence of white cells in the sputum renders it yellow or green (purulent) but
does not necessarily imply infection.
9 Selecki Y, Helman A. Chronic cough in children. Australian Doctor, 1989; 18 Sept.: i–iv.
10 Charles PG et al. The etiology of community-acquired pneumonia in Australia: why
penicillin plus doxycycline or a macrolide is the most appropriate therapy. Clin Infect Dis,
2008; 46(10): 1513–21.
11 Stocks N, Melbye H. Community acquired pneumonia: how to treat. Australian Doctor, 16
March 2007: 25–32.

12 Smyrinos NA et al. From a prospective study of chronic cough: diagnostic and therapeutic
Patient education resources aspects in older adults. Arch Intern Med, 1988; 158: 1222–8.

13 McPhee SJ, Papadakis MA. Current Medical Diagnosis and Treatment (56th edn).
Hand-out sheets from Murtagh’s Patient Education 8th edition: McGraw-Hill Education, 2017: 214.
Common cold 14 Hemilä H, Chalker E. Vitamin C for preventing and treating the common cold. Cochrane
Database of Syst Rev, 2013; Issue 1.
Croup
15 Singh M, Das RR. Zinc for the common cold. Cochrane Database of Syst Rev, 2015; Issue
Influenza 4.
 Karsch‐Völk M et al. Echinacea for preventing and treating the common cold.
16 Cochrane Database of Syst Rev, 2014; Issue 2. Page 399 Page 400

17 Thompson K, Tey D, Marks M. Paediatric Handbook (8th edn). Melbourne: Blackwell

Science, 2009: 514, 606.

18 Burk M et al. Viral infection in community-acquired pneumonia: a systematic review and

meta-analysis. European Respiratory Review, Jun 2016; 25(140): 178–188.
33 Deafness and hearing loss
19 Chalmers JD et al. Severity assessment tools for predicting mortality in hospitalised
patients with community-acquired pneumonia. Systematic review and meta-analysis.
Thorax, 2010; 65(10): 878–83.

20 Kahrilas P et al. Chronic cough due to gastroesophageal reflux in adults. CHEST There are two kinds of deafness. One is due to wax and is curable; the other is not due to wax
and is not curable.
Guideline and Expert Panel Report, 2016 Dec; 150(6): 1341–60.

21 National Health and Medical Research Council. Assessment and Management of Lung SIR WILLIAM WILDE (1815–1876)
Cancer. Evidence-Based Guidelines. A Guide for GPs. NH&MRC, 2005.
Deafness is defined as impairment of hearing, regardless of its severity.1 It is a major community
22 Beckles MA et al. Initial evaluation of the patient with lung cancer. Chest, 2003; 123(1 health problem requiring a high index of suspicion for diagnosis, especially in children. Deafness
suppl): 97S–104S. may be conductive, sensorineural or a combination of both (mixed).
23 Royal Australian College of General Practitioners. Guidelines for preventive activities in
general practice (9th edn). East Melbourne, Vic: RACGP, 2016. Key facts and checkpoints
24 Lau L, ed. Imaging Guidelines (4th edn). Melbourne: RANZC Radiologists, 2001: 64. Deafness occurs at all ages but is more common in the elderly (see FIG. 33.1 ).
25 Chan BA, Coward JI. Chemotherapy advances in small-cell lung cancer. J Thorac Dis, Fifty per cent of people over 80 years have deafness severe enough to be helped
2013; 5(Suppl 5): S565–78. by a hearing aid.

The threshold of normal hearing is from 0–20 decibels (dB), about the loudness of a
26 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2018: 902–3. soft whisper.

60 dB is the level of normal conversation or a sewing machine.

One in seven of the adult population suffers from some degree of significant
hearing impairment (over 20 dB in the better-hearing ear).2

One child in every 1000 is born with a significant hearing loss. The earlier it is
detected and treated, the better.

Degrees of hearing impairment with vocal equivalent:2,3

– mild = loss of hearing at 20–40 dB (soft-spoken voice is 20 dB)

– moderate = loss at 40–60 dB (normal voice)

– severe = loss at 70–90 dB (loud spoken voice)

–
 profound = loss at over 90 dB (shout is 90–120 dB)
More women than men have a hearing loss.
People who have worked with high noise levels (>85 dB) are more than twice as
likely to be deaf.
There is a related incidence of tinnitus with deafness.
FIGURE 33.1 Prevalence of hearing problems with increasing age
A diagnostic approach
It is useful to consider the causes of deafness in terms of pathophysiology (conductive or
sensorineural hearing loss) and anatomical sites (see FIG. 33.2 ).
FIGURE 33.2 Causes of deafness according to anatomical site
Page 401
Conductive hearing loss is caused by an abnormality in the pathway conducting sound waves
from the outer ear to the inner ear,1 as far as the footplate of the stapes.
Sensorineural hearing loss (SNHL) is a defect central to the oval window involving the cochlea
(sensor), cochlear nerve (neural) or, more rarely, central neural pathways.1 Mixed hearing loss
occurs most commonly with severe head injury or chronic infection.
Congenital deafness is an important consideration in children, while presbycusis is very common
in the aged. The commonest acquired causes of deafness are impacted cerumen (wax), serous
otitis media and otitis externa. Noise-induced deafness is also common.
It is important not to misdiagnose an acoustic neuroma, which can present as acute deafness,
although slow progressive loss is more typical. A summary of the diagnostic strategy model,
which includes several important causes of deafness, is presented in TABLE 33.1 and a
checklist of ototoxic drugs in TABLE 33.2 . Page 402
Table 33.1 Deafness and hearing loss: diagnostic
strategy model
Probability diagnosis
Impacted cerumen
Serous otitis media Table 33.2 Known ototoxic drugs
Otitis externa
Congenital (children)
Alcohol
Presbycusis
Aminoglycosides:
Serious disorders not to be missed amikacin
Neoplasia: gentamicin
acoustic neuroma kanamycin
temporal lobe tumours (bilateral) neomycin
otic tumours streptomycin
nasopharyngeal carcinoma tobramycin
Infection: Diuretics:
generalised infections (e.g. mumps, measles) ethacrynic acid
meningitis frusemide
syphilis Chemotherapeutic agents
Perforated tympanic membrane Quinine and related drugs
Cholesteatoma Salicylates/aspirin excess
Perilymphatic fistula (post-stapedectomy)
Ménière syndrome
Symptoms
Pitfalls (often missed)
Foreign body The symptoms vary so that some barely notice a problem while others are severely disabled.
Temporal bone fracture
Common symptoms include inability to:
Otosclerosis
Barotrauma hear speech and other sounds loudly enough
Noise-induced deafness
hear speech and music clearly, even when loud enough
Rarities:
Paget disease of bone understand speech even when loud enough—a problem of language reception
multiple sclerosis
People with mild hearing loss notice only subtle differences and may have trouble hearing
osteogenesis imperfecta certain high-frequency sounds, such as ‘s’, ‘f’ or ‘th’. They may also have trouble hearing in
Seven masquerades checklist certain situations, such as at a party or in a crowd where there is a lot of background noise. Those
with moderate hearing loss have trouble hearing in many situations.
Diabetes
Drugs
Thyroid disorder (hypo)
The clinical approach
Is the patient trying to tell me something?
History
Unlikely.
The history should include an account of the onset and progression of any deafness, noise
exposure, drug history, a history of swimming or diving, air travel, head injury and family
history. A recent or past episode of a generalised infection would be relevant and the presence of
associated aural symptoms, such as ear pain, discharge, tinnitus and vertigo. Vertigo may be a
symptom of Ménière syndrome, multiple sclerosis, acoustic neuroma or syphilis.
In children and in adults with a reasonable amount of hair, grab several hairs close to the external
auditory canal between the thumb and index finger. Rub the hairs lightly together at 5 cm (high
sensitivity) to produce a relatively high-pitched ‘crackling’ sound (see FIG. 33.3 ). If this sound
cannot be heard, a moderate hearing loss is likely (usually about 40 dB or greater). Like the
whisper test, this test is a rough guide only.

Several important clues can be obtained from the history. The often sudden onset of hearing loss
in an ear following swimming or showering is suggestive of wax, which swells to block the ear
canal completely.

Red flags
Unilateral sensorineural hearing loss

Cranial nerve abnormalities (other than hearing loss)

Patients with conductive loss may hear better in noisy conditions (paracusis) because we raise
our voices when there is background noise. Conversely, people with sensorineural deafness
(SND) usually have more difficulty hearing in noise as voices become unintelligible.
Examination
Inspect the facial structures, skull and ears. The ears are inspected with an otoscope to visualise
the external meatus, the tympanic membrane (TM) and the presence of obstructions such as wax,
inflammation or osteomata.
The examination requires a clean external auditory canal. Gentle suction is useful for cleaning
pus debris. Syringing is reserved for wax in people with an intact TM and a known healthy
middle ear.
It is an advantage to have a pneumatic attachment to test drum mobility. Reduction of TM
mobility is an important sign in secretory otitis media.
There are several simple hearing tests. The distance at which a ticking watch can be heard can be
used but the advent of the digital watch has affected this traditional method.
FIGURE 33.3 Simple hair-rubbing method of testing possible deafness
Tuning fork tests
If deafness is present, its type (conduction or sensorineural) should be determined by tuning fork
testing. The most suitable tuning fork for preliminary testing is the C2 (512 cps) fork. The fork is
best activated by striking it firmly on the bent elbow.
Page 403
Weber test
The vibrating tuning fork is applied firmly to the midpoint of the skull or to the central forehead
or to the teeth.
This test is of value only if the deafness is unilateral or bilateral and unequal (see FIG. 33.4 ).
Normally the sound is heard equally in both ears in the centre of the forehead. With
sensorineural deafness the sound is heard in the normal ear, while with conduction deafness it is
heard better in the abnormal ear.

Whisper test
Occlude far ear. Have the patient cover near eye with one hand to prevent lip reading. Place your
mouth at the near side. Strongly whisper ‘68’ then ‘100’ from a distance of 50 cm. Ask the
patient to repeat the words. If not heard, repeat using a normal speaking voice.

Hair-rubbing method
 FIGURE 33.5 Rinne test comparing air conduction (a) with bone conduction
(b)

A comparison of the interpretation of these tests is summarised in TABLE 33.3 .

Table 33.3 A comparison of the Rinne and Weber tests

State of the hearing Rinne test Weber test

Normal Positive: AC > BC Equal in both ears
FIGURE 33.4 Weber test
Conduction deafness Negative: BC > AC Louder in the deaf
Lateralisation of the sound to one ear indicates a conductive loss on that side, or a sensorineural ear
loss on the other side. Very severe conduction Negative: BC > AC Louder in the deaf
deafness May hear BC only ear
Rinne test
Sensorineural deafness Positive: AC > BC Louder in the
The tuning fork (512 or 256 Hz) is held: better ear

outside the ear (tests air conduction) and Very severe sensorineural ‘False’ negative (without Louder in the
deafness masking) better ear
firmly against the mastoid bone (tests bone conduction)
AC = air conduction; BC = bone conduction
Ask which is louder.

It therefore compares air and bone conduction in the same ear (see FIG. 33.5 ). A more
Audiometric assessment
commonly used variation of the test includes placing the tuning fork on the mastoid process and
Audiometric assessment includes the following:
the patient indicates when it can no longer be heard. The fork is then placed at the external
auditory meatus and the patient indicates whether the sound is now audible. Normally air pure tone audiometry
conduction is better than bone conduction and the sound will again be heard.
impedance tympanometry

electric response audiometry

oto-acoustic emission testing Page 404

Pure tone audiometry4,5

Pure tone audiometry is a graph of frequency expressed in hertz versus loudness expressed in
decibels. The tone is presented either through the ear canal (a test of the conduction and the
cochlear function of the ear) or through the bone (a test of cochlear function).

FIGURES 33.6 and 33.7 are typical examples of pure tone audiograms.

FIGURE 33.6 Pure tone audiogram for severe conductive deafness in left ear
Source: Black4
FIGURE 33.7 Pure tone audiogram for unilateral (left) sensorineural
deafness. Suspect a viral or congenital origin in children; check adults for
acoustic neuroma.
The difference between the two is a measure of conductance. If the two ears have different
thresholds, a white noise masking sound is applied to the better ear to prevent it hearing sound
presented to the test ear. The normal speech range occurs between 0 and 20 dB in soundproof
conditions across the frequency spectrum.
Tympanometry
Tympanometry measures the mobility of the tympanic membrane, the dynamics of the ossicular
chain and the middle-ear air cushion. The test consists of a sound applied at the external auditory
meatus, otherwise sealed by the soft probe tip.
Imaging
CT and gadolinium-enhanced MRI can identify retrocochlear pathology such as acoustic
neuroma and cochlear nerve agenesis.
Deafness in children
Deafness in childhood is relatively common and often goes unrecognised. One to two of every
1000 newborn infants suffer from sensorineural deafness.1 Congenital deafness may be due to
inherited defects, to prenatal factors such as maternal intra-uterine infection or drug ingestion
during pregnancy, or to perinatal factors such as birth trauma, and haemolytic disease of the
newborn.
Deafness may be associated with Down syndrome and Waardenburg syndrome. Waardenburg
syndrome, which is dominantly inherited, is diagnosed in a person with a white forelock of hair
and different coloured eyes.
Acquired deafness accounts for approximately half of all childhood cases. Purulent otitis media
and secretory otitis media are common causes of temporary conductive deafness. However, one
in 10 children will have persistent middle-ear effusions and mild to moderate hearing loss in the
15–40 dB range.6
Permanent deafness in the first few years of life may be due to virus infections, such as mumps
or meningitis, ototoxic antibiotics and several other causes.
Screening1
Screening should begin at birth so that language input can allow optimal language development.
The aim of screening should be to recognise every deaf child by the age of 8 months to 1 year—
before the vital time for learning speech is wasted. High-risk groups should be identified and
screened; for example, a family history of deafness, maternal problems of pregnancy, perinatal
problems, survivors of intensive care, very low birthweight and gestation <33 weeks, cerebral
palsy and those with delayed or faulty speech. The guidelines for early signs of normal hearing
are presented in TABLE 33.4 . Page 405
Table 33.4 Early signs of normal hearing
Age Typical response
1 month Should notice sudden constant sounds (e.g. car motor, vacuum
cleaner) by pausing and listening.
3 months Should respond to loud noise (e.g. will stop crying when hands are
clapped).
4 months Should turn head to look for source of sound, such as mother
 speaking behind the child. inability to detect sound direction (unilateral loss)
7 months Should turn instantly to voices or even to quiet noises made across the
inability to follow simple commands or using less than 20 spoken words by 2 years
room.
10 months Should listen out for familiar everyday sounds. Screening methods
12 months Should show some response to familiar words and commands,
including his or her name. Hearing can be tested at any age. No child is too young to be tested and this includes the
newborn. Informal office assessments, such as whispering in the child’s ear or rattling car keys,
are totally inadequate for excluding deafness and may be potentially harmful if they lead to false
Optimal screening times: reassurance.

8–9 months (or earlier) Pneumatic otoscopy is essential to exclude middle-ear effusions.

school entry
Newborn hearing screening measures the 8th cranial nerves’ responses to sound, and is widely
available and encouraged in Australia. Screening has improved the average age of detection of
deafness from 20 months in 1989 to 0.8 months in 2014.7
Early signs of hearing loss
A high index of suspicion is essential in detecting hearing loss in children and any parental
concern should be taken seriously. The presentation of hearing loss will depend on whether it is
bilateral or unilateral, its severity and age of onset.
Typical presentations include:
Pure tone audiometry is unreliable in children under 4 years of age, so special techniques such as
tympanometry are required. Tympanometry assesses TM compliance, and is highly sensitive and
specific for detecting middle-ear pathology in children beyond early infancy.
Neonates and infants can be tested using Automated Auditory Brainstem Response (AABR) or
Transient Evoked Otoacoustic Emissions (TEOAE).
Management
Children with middle-ear pathology and hearing loss should be referred to a specialist. All
children with sensorineural hearing loss (even those with profound deafness), as well as children
with conductive losses not correctable by surgery, benefit from amplification. All children need
referral to a specialist centre skilled in educational and language remediation.

malformation of skull, ears or face Deafness in the elderly8

failure to respond in an expected way to sounds, especially one’s voice
preference for, or response only to, loud sounds
no response to normal conversation or to television
speech abnormality or delay
The prevalence of hearing loss increases exponentially with age. The commonest reason for
bilateral progressive sensorineural deafness is presbycusis, which is the high-frequency hearing
loss of advancing age (see FIG. 33.8 ). There appears to be a genetic predisposition to
presbycusis.8

absence of ‘babbling’ by 12 months

no single words or comprehension of simple words by 18 months

learning problems at school

disobedience

other behavioural problems

 complaints about people mumbling

requests to have speech repeated

complaints of tinnitus

setting television and radio on high volume

Sudden deafness
Sudden deafness refers to a sudden sensorineural hearing loss threshold of greater than 30–35 dB
with an onset period of between 12 hours and 3 days.9 It specifically excludes gradual
progressive causes of sensorineural deafness, such as cumulative noise trauma or presbycusis,
FIGURE 33.8 Presbycusis: bilateral high-frequency sensorineural deafness and also excludes causes of sudden deafness that may be related to pathology in the external
auditory canal, TM or middle ear.
Page 406
The main causes are given in TABLE 33.5 .
Presbycusis
Presbycusis is sensorineural hearing loss related to deterioration of hearing with ageing. Some Table 33.5 Causes of sudden deafness
features include:

loss of high-frequency sounds Trauma:

head injury/blunt head trauma
usually associated with tinnitus diving
flying
intolerance to very loud sounds
acoustic blast
difficulty picking up high-frequency consonants, e.g. ‘f’, ‘s’—these sounds are often distorted Postoperative:
or unheard, and there is confusion with words such as ‘fit’ and ‘sit’, ‘fun’ and ‘sun’ previous stapedectomy
Deafness is associated with various types of mental illness in the aged, including anxiety, Viral infections (e.g. mumps, measles, herpes zoster)
depression, paranoid delusions, agitation and confusion because of sensory deprivation. The Ototoxic drugs (e.g. aminoglycosides, gentamicin)
possibility of deafness should be kept in mind when assessing these problems. Cerebellopontine angle tumours (e.g. acoustic neuroma)
Vascular disease:
Signs indicating referral for hearing test polycythaemia
diabetes
Possible indications for referring the older person:
stroke, especially cerebellar
speaking too loudly vasculitis
Ménière syndrome
difficulty understanding speech
Cochlear otosclerosis
social withdrawal

lack of interest in attending parties and other functions In several instances, despite a careful clinical examination and investigation, an explanation for
sudden sensorineural deafness cannot be found and it is considered to be idiopathic, which
accounts for most cases. The cause of deafness in these cases is thought to be either vascular Referral to an ENT specialist
obstruction of the end artery system or viral cochleitis.8,10 Fortunately, spontaneous recovery
usually results. Stapedectomy (approximately 90% effective)

Patients with sudden sensorineural deafness require immediate referral. It is a difficult problem
both in diagnosis and management. Early diagnosis and a high index of suspicion are
fundamental.8 Two important conditions that deserve special reference are perilymphatic fistula,
which occurs after stapedectomy, and an acoustic neuroma presumably causing compression of
the internal auditory artery by the tumour in the internal auditory meatus.
Investigations: FBE, ESR, ANCA; TB ELISpot; viral titres; evoked response audiometry; MRI.
Otosclerosis
Otosclerosis is a disease of the bone surrounding the inner ear and is the most common cause of
conductive hearing loss in the adult with a normal tympanic membrane. The normal middle-ear
bone is replaced by vascular, spongy bone that becomes sclerotic.11
3
Clinical features
Usually:
a progressive disease
develops in the 20s and 30s
family history (autosomal dominant)
Hearing aid (less effective alternative)
Cholesteatoma10
A cholesteatoma is a sac of keratinising squamous epithelium that arises from a perforation
involving the periphery of the TM. In other words, it is a ‘big sac of skin’ (refer to
CHAPTER 39 ). It is dangerous to the ear because it tends to expand and destroy adjacent
structures, including the TM, ossicular chain and cochlear. Destruction of the first two may result
in conductive hearing loss of up to 60 dB. Irreversible sensorineural deafness caused by otic
capsule erosion may also occur. Surgical correction is mandatory.
Wax impaction12
Ear wax impaction occurs in about 5% of the normal population but is more prevalent in older
people especially with the use of hearing aids. It is also common in those who use cotton buds
(which should be avoided), where cerumen is packed onto the TM leading to a conductive
hearing loss. The average wax production is 2.81 mg/week. Most ear wax clears spontaneously
without treatment.
Methods of removal include:
gentle syringing with warm (body temperature) water by trained practitioner (avoid syringing
if infection or perforated TM)

bilateral or unilateral consider cerumenolytic drops for several days before syringing

female preponderance carbamide peroxide (Ear Clear)

affects the footplate of the stapes docusate sodium (Waxsol)

may progress rapidly during pregnancy hydrogen peroxide
conductive hearing loss sodium bicarbonate drops
begins in lower frequencies, then progresses Page 407 oil based (e.g. olive oil, almond oil)
impedance audiometry shows characteristic features of conductive loss with a mild Keratosis obturans is an accumulation of keratin to form a pearly-white plug that requires
sensorineural loss removal.

may be associated with Ménière syndrome

Noise-induced hearing loss
Management
Clinical features
 Onset of tinnitus after work in excessive noise Rarities:
superior canal dehiscence
Speech seems muffled soon after work
glomus jugulare tumour
Temporary loss initially but becomes permanent if noise exposure continues syphilis

High-frequency loss on audiogram Seven masquerades checklist

Anaemia (severe)
Sounds exceeding 85 dB are potentially injurious to the cochlea, especially with prolonged
Depression
exposures. Common sources of injurious noise are industrial machinery, weapons and loud
music. Drugs (aspirin, NSAIDs, loop diuretics, marijuana, quinine, aminoglycosides)
Spinal dysfunction
Tinnitus13 Is the patient trying to tell me something?
Consider if subjective tinnitus.
The diagnostic strategy is presented in TABLE 33.6 .

Table 33.6 Diagnostic strategy for tinnitus Tinnitus is defined as a sound perceived by the ear that arises from an internal source. When
pathology in the inner ear is the cause, the tinnitus is non-pulsating, continuous and may have
variable frequencies and intensity. Page 408
Probability diagnosis
Ear wax or debris A thorough history and examination should be conducted so that tinnitus can be classified as
Sensorineural hearing loss (esp. noise-induced) objective (e.g. heard with stethoscope) or non-objective, and pulsatile or non-pulsatile.
Otosclerosis Precautions:
Ageing
Ear infection (e.g. viral cochleitis) exclude wax, drugs including marijuana, NSAIDs, salicylates, quinine and aminoglycosides,9
Ménière syndrome vascular disease, depression, anaemia, aneurysm, vascular tumours (e.g. glomus tumour),
venous hum (jugular vein), acoustic neuroma (progressive and unilateral), Ménière syndrome
Serious disorders not to be missed and infections (e.g. viral cochleitis)
Vascular:
if pulsatile, consider carotid artery lesions, including a caroticocavernous fistula and an AV
arteriovenous malformation
fistula
arterial bruits (esp. carotid)
venous hum (jugular) beware of lonely elderly people living alone (suicide risk)
Infection:
Note: Otosclerosis in young adults causes deafness and tinnitus.
suppurative otitis media
Cancer/tumour: Investigations
acoustic neuroma (unilateral)
Other: Audiological examination by audiologist
head injury Tympanometry and speech discrimination
Pitfalls (often missed)
MRI or CT scan (if serious cause suspected or head injury)
Impacted wisdom tooth
Temporomandibular injury Management
Alcoholism
 Treat any underlying cause and aggravating factors. Otherwise, minimise symptoms. rapidly advancing, and modern aids selectively amplify higher frequencies and ‘cut out’
excessive volume peaks that would cause discomfort. A trial of such aids should be made by a
Educate and reassure the patient (tinnitus is nearly always amenable to treatment). reliable hearing-aid consultant following full medical assessment.

Encourage a patient support group.

Cochlear implants8,13
Holistic approach (options)
The cochlear implant or ‘bionic ear’ is used in adults and children with severe hearing loss
Mainly based on acoustic desensitisation: unresponsive to powerful hearing aids. The implant consists of an array of 22 electrodes inserted
into the cochlea following mastoidectomy, attached to a receiver implanted in the skull next to
Relaxation techniques, address any anxiety the ear. External sounds are detected by an external processor worn behind the ear and connected
to the implanted receiver with an external induction coil. Near normal speech and hearing may
Tinnitus retraining therapy (clinical psychologist) be achieved in children with congenital or acquired deafness with early implantation. The device
is most suitable for children over 2 years and adults with severe deafness.
Cognitive behaviour therapy techniques

Background ‘noise’ (e.g. music played during night for masking) Advice for families14
Tinnitus maskers
Relatives and close friends need considerable advice about coping with deaf family members.
Hearing aids (based on audiologist assessment) They should be told that the deaf person may hear in a quiet room but not in a crowd, and
advised of the range of aids and services available and the importance of proper maintenance of
Consider hypnotherapy any hearing aids (especially with aged people).

Medical Do
Clonazepam 0.5 mg nocte (with care) Face the light when speaking to them.

Minerals (e.g. zinc and magnesium) Speak directly to them.

Betahistine (Serc) 8–16 mg daily (max. 32 mg) Speak clearly and naturally.
Carbamazepine or sodium valproate Speak at a uniform pitch: avoid lowering your voice during or at the end of a sentence.
Antidepressants if depressed Speak within 2 metres.
Note: All of the above treatments have unsupportive Cochrane reviews. Be tolerant and relaxed.

Acute severe tinnitus Be patient with mistakes.

Lignocaine 1% IV slowly (up to 5 mL) Write key words on a paper pad when necessary. Page 409

Hearing aids Don’t

Speak with your back to them.
Hearing aids are most useful in conductive deafness. This is due to the relative lack of distortion,
making amplification simple. In sensorineural deafness, the dual problem of recruitment and the Mumble your words.
hearing loss for higher frequencies may make hearing aids less satisfactory. Technology is
 Use exaggerated lip movements. No child is too young for audiological assessment. Informal office tests are
inadequate for excluding hearing loss.
Shout.
Sounds tend to be softer in conductive hearing loss and distorted with
Put your hand or fingers over your mouth when talking. sensorineural loss.

Repeat one word over and over. People with conductive deafness tend to speak softly, hear better in a noisy
environment, hear well on the telephone and have good speech discrimination.

Red flags for priority referral8 People with sensorineural deafness tend to speak loudly, hear poorly in a noisy
environment, have poor speech discrimination and hear poorly on the telephone.
Asymmetrical sensorineural hearing loss

Cranial nerve defects (other than hearing loss)

Patient education resources
Ear canal or middle-ear mass
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Deep ear pain
Hearing problems in children
Discharging ear
Hearing impairment in older people

Tinnitus
When to refer
References
See ‘Red flags’ above.

Sudden deafness. 1 Lasak JM et al. Hearing loss: diagnosis and management. Prim Care, 2014; 41(1): 19–31.

Any child with suspected deafness, including poor speech and learning problems, should be 2 Fagan P. Assessing hearing in clinical practice. Medical Observer, 10 March 2006: 23–5.
referred to an audiology centre.
3 Papadakis MA, McPhee SJ. Current Medical Diagnosis and Treatment (56th edn). New
Any child with middle-ear pathology and hearing loss should be referred to a specialist. York: McGraw-Hill Education, 2017: 209–10.

Unexplained deafness. 4 Black B. Pure tone audiograms. Aust Fam Physician, 1988; 17: 906–7.

Practice tips
A mother who believes her child may be deaf is rarely wrong.
Suspect deafness in an infant with delayed development and in children with
speech defects or behavioural problems.
Audiological assessment should be performed on children born to mothers with
evidence of intra-uterine infection by any of the TORCH organisms
(toxoplasmosis, rubella, cytomegalovirus and herpes virus).
5 Cootes H. Interpret audiograms: therapy update. Australian Doctor, 25 May 2007: 41–6.
6 Jarman R. Hearing impairment. Australian Paediatric Review, 1991; 4: 2.
7 Victorian Agency for Health Information and Safer Care Victoria. Hearing screening for
neonates [17 Feb 2021]. Better Safer Care. Victoria State Government. Available from:
https://www.bettersafercare.vic.gov.au/clinical-guidance/neonatal/hearing-screening-for-
neonates, accessed March 2021.
8 Sale P, Patel N. Hearing loss in the ageing patient: how to treat. Australian Doctor, 15
April 2011: 27–34.
9 Pohl DV. Sudden deafness. Modern Medicine Australia, 1990; June: 72–8.
Page 410
10 Fortnum HM et al. Prevalence of permanent childhood hearing impairment in the United
Kingdom and implications for universal neonatal hearing screening: questionnaire-based
ascertainment study. BMJ, 2001; 323: 536–40.

11 Rudic M et al. The pathophysiology of otosclerosis: review of current research. Hear Res,
2015; December 330 (Part A): 51–6.
34 Diarrhoea
12 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2016: 422.

13 Black B, Harvey L. Tinnitus: update. Medical Observer, 13 August 2004: 31–3.

A dirty cook gives diarrhoea quicker than rhubarb.
14 Atlas M, Lowinger D. The GP’s essential guide to hearing loss. Medicine Today, 2000;
June: 48–59. TUNG-SU PAI (TIME UNCERTAIN)

Diarrhoea is defined as an intestinal disorder characterised by abnormal frequency and liquidity

of faecal evacuations.

Acute self-limiting diarrhoea, which is very common and frequently not seen by the medical
practitioner, is usually infective and mild, and resolves within days. In Australia most infective
cases are viral. The causes of diarrhoea are numerous, thus making a detailed history and
examination very important in leading to the diagnosis. ‘Chronic’ diarrhoea is that lasting at least
4–6 weeks. Important causes are presented in FIGURE 34.1 .

FIGURE 34.1 Important causes of chronic diarrhoea

The terminology for acute infective diarrhoea can be confusing. A simple classification is:

vomiting and diarrhoea = gastroenteritis

 diarrhoea (only) = enteritis
Table 34.1 Diarrhoea: diagnostic strategy model

Key facts and checkpoints Probability diagnosis

Acute:
The characteristics of the stool provide a useful guide to the site of the bowel
disorder. Gastroenteritis/infective enteritis (viral/bacterial)
Dietary indiscretion
Disorders of the upper GIT tend to produce diarrhoea stools that are copious, Antibiotic reaction
watery or fatty, pale yellow or green.
Chronic:
Colonic disorder tends to produce stools that are small, of variable consistency, Irritable bowel syndrome
brown and may contain blood or mucus. Drug reactions (e.g. laxatives)
Chronic infections
Acute gastroenteritis should be regarded as a diagnosis of exclusion.
Serious disorders not to be missed
Chronic diarrhoea is more likely to be due to protozoal infection (e.g. amoebiasis,
giardiasis or Cryptosporidium) than bacillary dysentery. Neoplasia:
colorectal cancer
Asking about a history of travel, especially to countries at risk of endemic bowel ovarian cancer
infections, is essential.
peritoneal cancer
Certain antibiotics can cause an overgrowth of Clostridium difficile, which produces HIV infection (AIDS)
pseudomembranous colitis. Infections:
cholera
Coeliac disease, although a cause of failure to thrive in children, can present at any
age. typhoid/paratyphoid
amoebiasis
In disorders of the colon, the patient experiences frequency and urgency but malaria
passes only small amounts of faeces.
enterohaemorrhagic E. coli enteritis
Diarrhoea can be classified broadly into four types: Inflammatory bowel disease:
Crohn/ulcerative colitis
acute watery diarrhoea pseudomembranous colitis
bloody diarrhoea (acute or chronic) Non-microbial food poisoning (e.g. death cap mushroom)
Intussusception
chronic watery diarrhoea Pelvic appendicitis/pelvic abscess
steatorrhoea Pitfalls (often missed)
Coeliac disease
Page 411
Faecal impaction with overflow (spurious) diarrhoea
Lactase deficiency
A diagnostic approach Giardia lamblia infection
Listeria
A summary of the diagnostic strategy model is presented in TABLE 34.1 . Cryptosporidium infection
 Cytomegalovirus in immunocompromised antibiotic reactions
Malabsorption states (e.g. coeliac disease)
Vitamin C and other oral drugs
Nematode infections:
Red flag pointers for diarrhoea
strongyloides (threadworm)
Unexpected weight loss
whipworm, hookworm
Radiotherapy Persistent/unresolved
Diverticulitis
Blood in stool
Post-GIT surgery
Ischaemic colitis (elderly) Fever
Rarities:
Addison disease (see CHAPTER 14 ) Overseas travel
carcinoid tumours Severe abdominal pain
zinc deficiency in children
short bowel syndrome Family history: bowel cancer, Crohn disease
amyloidosis
toxic shock
Chronic diarrhoea
Zollinger–Ellison syndrome
Seven masquerades checklist Irritable bowel syndrome was the commonest cause of chronic diarrhoea in a UK study.1

Diabetes Drug reactions are also important. These include ingestion of laxatives, osmotic agents such as
Drugs (e.g. metformin) lactose and sorbitol in chewing gum, alcohol, antibiotics, thyroxine and others.
Thyroid disorder (hyper)
Acute gastroenteritis that persists into a chronic phase is relatively common, especially in
Is the patient trying to tell me something? travellers returning from overseas. Important considerations are Giardia lamblia, C. difficile,
Yersinia, Entamoeba histolytica, Cryptosporidium and HIV infection.
Yes, diarrhoea may be a manifestation of anxiety state or irritable bowel syndrome.

Serious disorders not to be missed

Probability diagnosis Colorectal carcinoma must be considered with persistent diarrhoea, especially if of insidious
onset.
Acute diarrhoea
AIDS due to symptomatic HIV infection needs consideration, especially in those at Page 412
Common causes are: risk. The serious infectious disorders that can affect international travellers, such as
cholera, typhoid, paratyphoid and amoebiasis, should also be kept in mind.
gastroenteritis/enteritis:
In children, coeliac disease and cystic fibrosis can present as chronic diarrhoea, while
bacterial: Salmonella sp., Campylobacter jejuni, Shigella sp., enteropathic Escherichia coli, intussusception, although not causing true diarrhoea, can present as loose, redcurrant jelly-like
Staphylococcus aureus (food poisoning) stools and should not be misdiagnosed (as gastroenteritis). Appendicitis must also be considered
in the onset of acute diarrhoea and vomiting.
viral: rotavirus (50% of child hospital admissions),1 norovirus, astrovirus, adenovirus
Infection with enterohaemorrhagic strains of E. coli (e.g. O157:H7, O111:H8) may lead to the
dietary indiscretions (e.g. binge eating) haemolytic uraemic syndrome or thrombotic thrombocytopenic purpura, particularly in children.
What appears to be simple enteritis can eventuate to be fatal. If suspected, avoid giving Seven masquerades checklist
antibiotics.
The significant masquerades include diabetes (autonomic neuropathy may cause alternating
Clue: Think of it with atypical gastroenteritis and bloody diarrhoea. Avoid antibiotics. bouts of constipation and diarrhoea), thyrotoxicosis and drugs. Drugs that can cause diarrhoea
Death cap mushroom (the world’s most lethal)—Amanita phalloides (see FIG. 34.2 )—causes are summarised in TABLE 34.2 .
severe gastroenteritis followed by delayed hepatic failure and AKI.
Table 34.2 Drugs that can cause or aggravate diarrhoea

Alcohol, esp. chronic abuse (often overlooked!)

Antibiotics, esp. penicillin derivatives
Antihypertensives, selected (e.g. methyldopa)
Acarbose
Caffeine
Cardiac agents (e.g. digoxin, quinidine)
Colchicine
Cytotoxic agents (e.g. methotrexate)
Food and drug additives: sorbitol, mannitol, fructose, lactose
Heavy metals
H2-receptor antagonists
FIGURE 34.2 Amanita phalloides (death cap mushroom) Iron-containing compounds
Laxatives
Source: AleksandarMilutinovic/Shutterstock
Magnesium-containing antacids/magnesium supplements
Pitfalls Metformin
Misoprostol
There are many traps in evaluating the patient with diarrhoea, including drug ingestion, NSAIDs
especially vitamin C (sodium ascorbate powder), which causes diarrhoea. Faecal impaction with Orlistat
spurious diarrhoea is an age-old pitfall, as is lactase deficiency, which may go undiagnosed for
many years. In recent times infection with G. lamblia may smoulder on for months with watery, Prostaglandins
offensive stools before diagnosis. Salicylates
Sildenafil
General pitfalls Statins
Theophylline
Not considering acute appendicitis in acute diarrhoea—can be retrocaecal or pelvic
appendicitis Thyroxine

Missing faecal impaction with spurious diarrhoea

Failing to perform a rectal examination Pseudomembranous colitis (antibiotic-associated

Failing to consider acute ischaemic colitis in an elderly patient with the acute onset of bloody
diarrhoea)2
diarrhoea stools (following sudden abdominal pain in preceding 24 hours) This potentially fatal colitis can be caused by the use of any antibiotic, especially clindamycin,
lincomycin, ampicillin and the cephalosporins (an exception is vancomycin). It is usually due to
an overgrowth of C. difficile, which produces a toxin that causes specific inflammatory lesions,
sometimes with a pseudomembrane. It may occur, uncommonly, without antibiotic usage.
Page 413
Clinical features
Profuse, watery diarrhoea
symptoms, including abdominal pain, and constitutional symptoms, such as fever. Food intake in
the past 72 hours and recent travel abroad may give a clue to acute gastroenteritis or food
poisoning (an acute, self-limiting illness of diarrhoea and vomiting). The difference between
food poisoning and infective gastroenteritis is presented in TABLE 34.3 . However, there can be
an overlap of features from a specific organism and the exercise may be semantic, but it may
provide a clue to food-borne causation. A summary of non-microbial food poisoning is presented
in TABLE 34.4 .

Abdominal cramping and tenesmus ± fever

Table 34.3 Comparison of acute diarrhoea due to bacterial food poisoning and
Within 2 days of taking antibiotic (can start up to 4 to 6 weeks after usage) infective gastroenteritis

Persists 2 weeks (up to 6) after ceasing antibiotic

Infective
Food poisoning
Diagnosed by characteristic lesions on sigmoidoscopy and a tissue culture assay and/or PCR for gastroenteritis
C. difficile toxin. Responsible organisms Toxins from: Viral
Staphylococcus Bacterial, e.g.
Treatment2 aureus Campylobacter
Salmonella sp. jejuni
Cease antibiotic
Clostridium Escherichia coli
Hygiene measures to prevent spread perfringens Shigella sp.
Clostridium difficile Salmonella sp.
Mild to moderate: metronidazole 400 mg (o) tds for 10 days Vibrio
parahaemolyticus
Severe: vancomycin 125 mg (o) qid for 10 days
Aeromonas hydrophilia
Consult with specialist. Beware of toxic megacolon. Bacillus cereus
Incubation period (onset from Short—within 24 hours 3–5 days
Psychogenic considerations contact) Average—12 hours
Anxiety and stress can cause looseness of the bowel. The irritable bowel syndrome, which is a S. aureus—2–4 hours
very common condition, may reflect underlying psychological factors and most patients find that
Diarrhoea Watery Diarrhoea ±
the symptoms are exacerbated by stress. Look for evidence of depression.
blood
In children, chronic diarrhoea can occur with the so-called ‘maternal deprivation syndrome’, Other features Abdominal cramps Abdominal
characterised by growth and developmental retardation due to adverse psychosocial factors. (milder) cramps
Dehydration
The clinical approach Headache
Vomiting
History Typical foods Chicken Milk
As always, the history is the key to the diagnosis. First establish what the patient means by the Meat Water
term ‘diarrhoea’, his or her normal pattern and how the presenting problem varies from normal. Seafood Chicken
Rice
It is important to analyse the nature of the stools, the frequency of diarrhoea, associated
 Custard and cream (S. People at risk from HIV infection should be discreetly evaluated.
aureus)
Key questions
Page 414
Acute diarrhoea
Table 34.4
Non-microbial food poisoning3 Where did you eat in the 24 hours before the diarrhoea started?

What food did you eat during this time?

Food (specific Features
Toxin Onset
types) (symptoms) Did you have chicken or seafood recently? (Chicken may be contaminated with Salmonella or
Mushrooms Muscarine Minutes to hours N, V, D, P: Campylobacter and seafood with Vibrio parahaemolyticus.)
CNS
symptoms Did any other people get the same problem?
Toadstools Amatoxin Hours N, V, D, P: Have you travelled overseas recently? Where?
hepatic
failure Have you noticed any blood or mucus in your motions?
Immature or Solanine Within hours N, V, D, P Have you had any previous attacks?
sprouting Throat
potatoes constriction Have you noticed fever, weakness or other symptoms?

Fish Ichthyosarcotoxin 10–60 minutes N, V, D, P Chronic diarrhoea

Various (e.g. (occasionally Circumoral
ciguatera, longer) tingling Have you noticed any blood or mucus in the motion?
scombrotoxin) CNS
symptoms Have you travelled overseas recently? Where?
Collapse Do you have pain and is it relieved by opening your bowels or passing wind?
Mussels Mytilotoxism 5–30 minutes N, V, P
Does anyone else in your family have diarrhoea?
CNS:
paralysis Have you had any operations on your abdomen recently?
Grain, esp. rye Ergot fungus Minutes to 24 N, V, P
What medications are you taking?
Alphatoxin hours Circulatory
and CNS Are you taking antibiotics?
Fava beans Enzyme deficiency Rapid V, D Do you take vitamin C for your health?
(favism) Acute
haemolysis Do you take laxatives?

How much alcohol do you drink? Fruit juice?

N = nausea; V = vomiting; D = diarrhoea; P = abdominal pain
How much milk do you drink?
A drug history is relevant, as is a family history of diarrhoea, which may be significant for
coeliac disease, Crohn disease and cystic fibrosis. What about thick shakes, ice-cream and yoghurt?
 Do you get clammy or shaky, or have you lost weight?

Have you had trouble with pain in your joints, back pain, eye trouble or mouth ulceration?

Do you have trouble flushing your motions down the toilet?

Do you get diarrhoea during the night?

Are you under a lot of stress?

Significance of symptoms

Abdominal pain

Central colicky abdominal pain indicates involvement of the small bowel, while lower
abdominal pain points to the large bowel.

Nature of stools

If small volume, consider inflammation or carcinoma of colon; if large volume, consider laxative
abuse and malabsorption.

If there is profuse bright red bleeding, consider diverticulitis or carcinoma of colon, and if small
amounts with mucus or mucopus, consider inflammatory bowel disorder. The presence of blood
in the stools excludes functional bowel disorder. Diarrhoea at night suggests organic disease. In
steatorrhoea the stools are distinctively pale, greasy, offensive, floating and difficult to flush. It is
exacerbated by fatty foods.

‘Rice water’ stool is characteristic of cholera and ‘pea soup’ stool of typhoid fever.

Page 415

Examination
The extent of the examination depends on the nature of the presenting problem. If it is acute, FIGURE 34.3 Possible significant signs in a person with diarrhoea
profuse and associated with vomiting, especially in a child, the examination needs to be general
to assess the effects of fluid, electrolyte and nutritional loss. An infant’s life is in danger from The stool
severe gastroenteritis and this assessment is a priority. The general nutritional and electrolyte
assessment is also relevant in chronic diarrhoea with malabsorption, and this includes looking for Ideally the stool should be examined. The consistency of the stool as an aid to diagnosis2,4 is
evidence of muscle weakness (e.g. hypokalaemia, hypomagnesaemia, tetany [hypocalcaemia], summarised in TABLE 34.5 , the features of the stool in TABLE 34.6 and the characteristics
bruising [vitamin K loss]). 1
that distinguish between small and large bowel diarrhoea are presented in TABLE 34.7 . Note
the presence of blood, mucus or steatorrhoea.
The examination should also focus on the abdomen (systematic palpation), the rectum and the
skin. Possible helpful signs are included in FIGURE 34.3 .
Table 34.5 Stool consistency as an aid to diagnosis

Consistency Probable cause

Liquid and uniform Small bowel disorder (e.g. gastroenteritis) Tenesmus - +
Loose with bits of faeces Colonic disorder
Watery, offensive, bubbly Giardia lamblia infection
Bloody diarrhoea
Liquid or semiformed, mucus ± blood Entamoeba histolytica
Bulky, pale, offensive Malabsorption Consider: inflammatory bowel disease, colonic polyps, carcinoma, infective especially Shigella,
Salmonella, Campylobacter, E. coli, amoebiasis, colitis (pseudomembranous, ischaemic).
Pellets or ribbons Irritable bowel syndrome Page 416

Investigations3
The following list includes a range of tests that may be required. Appropriate tests should be
Table 34.6 Stool features as an aid to diagnosis judiciously selected and in many instances, particularly acute self-limiting diarrhoea, no
investigations are necessary.
Stool appearance Cause to consider
Stool tests:
China clay Obstructive jaundice
Black stool Melaena (blood) in faeces microscopy for parasites and red and white cells (warm specimen for amoebiasis)
Pea soup Typhoid fever cultures: routine for Salmonella sp., Shigella sp., E. coli and possibly Campylobacter; may
Rabbit pellets Irritable bowel syndrome need special requests for Campylobacter sp., C. difficile and toxin, listeria, Yersinia sp.,
Cryptosporidium sp., Aeromonas sp. (stools must be collected fresh on three occasions)
Redcurrant jelly Intussusception
Rice water Cholera Blood tests (especially chronic diarrhoea): haemoglobin; MCV, WCC, ESR, iron, ferritin,
folate, vitamin B12, calcium, electrolytes, thyroid function, HIV tests
Silver stool Carcinoma of ampulla of Vater
Toothpaste Hirschsprung disease Specific tests for organisms

Antibody tests, total IgA (e.g. IgA transglutaminase for coeliac disease); PCR tests (where
applicable)
Table 34.7 Distinction between small and large Haemagglutination tests for amoebiasis
bowel diarrhoea
C. difficile tissue culture assay
Small bowel Large bowel
Malabsorption studies
Volume Large Small
Pain Central Lower/LIF Stool elastase for pancreatic insufficiency
Borborygmi ++ - Endoscopy:
Undigested food + -
proctosigmoidoscopy
Steatorrhoea +/- -
Blood - + flexible sigmoidoscopy/colonoscopy (with biopsy)

Mucus - + small bowel biopsy (coeliac disease)

Urgency - +
Radiology:
 plain X-ray abdomen—of limited value DxT acute diarrhoea + colicky abdominal pain ± vomiting →
gastroenteritis
small bowel enema
DxT (young adult) diarrhoea ± blood and mucus + abdominal cramps
barium enema, especially double contrast → inflammatory bowel disease (UC/Crohn)

Note: Those with HIV should be investigated in specialist centres due to complexity. DxT as above + constitutional symptoms ± eyes/joints → Crohn
disease
Complications of diarrhoea
DxT pale bulky offensive stools, difficult to flush, weight loss →
Fluid loss with dehydration, electrolyte loss (Na+, K+, Mg+, Cl-) malabsorption
Vascular collapse
Hypokalaemia DxT fatigue + weight loss + iron deficiency → coeliac disease

DxT failure to thrive (child) + recurrent chest infections → cystic

Principles of treatment3 fibrosis
When an underlying cause of diarrhoea can be identified, apart from some common infections,
DxT altered bowel habit: diarrhoea ± constipation ± rectal bleeding ±
management should be directed at that cause. There are a few situations in which the causative abdominal discomfort → colorectal carcinoma
bacterial or parasitic pathogen requires specific treatment, for example, giardiasis. The
management is determined by the nature of the pathogen and the severity of the illness. DxT diarrhoea (fluid/incontinent) + constipation + abdominal
discomfort + anorexia/nausea → faecal impaction
However, in Australia most infective cases are viral. The basic principle therefore is to achieve
and maintain adequate hydration until the illness resolves. In adults and children, oral DxT profuse watery diarrhoea + abdominal cramps and increasing
rehydration is indicated unless there is evidence of impending circulatory ‘shock’ demanding distension (on antibiotics) → pseudomembranous colitis (Girotra’s
intravenous therapy. Oral rehydration solution containing sodium, potassium and glucose should triad)
be considered for patients with mild to moderate dehydration. Adults should drink 2 to 3 L of the
solution in 24 hours. Normal food intake may start after rehydration. Page 417 DxT variable diarrhoea/constipation + abdominal discomfort + mucus
PR + flatulence → irritable bowel syndrome
In general, treatment should not be directed specifically at altering the frequency and consistency
of the stools. The antimotility drugs (loperamide, diphenoxylate and codeine) have a role
restricted to short-term control of symptoms in adults during periods of significant social
inconvenience, such as travel. It must be emphasised that antimotility drugs should be used with
caution, especially for C. difficile, Salmonella and Shigella, and are never indicated for
management of acute diarrhoea in infants and children.5
Malabsorption
It is important to distinguish the steatorrhoea of various malabsorption syndromes from
The traditional absorbent agents, such as kaolin/pectin mixtures, activated charcoal and other
diarrhoea. Important causes are presented in TABLE 34.8 .
mineral clays, have not been shown to be of value and may interfere with absorption of other
drugs. They should not be used.
Table 34.8 Important causes of malabsorption
Specific antibiotics are reserved for the treatment of giardiasis, amoebiasis, antibiotic-associated
diarrhoea, cholera and typhoid. Although antibiotics are usually unnecessary, they may be
indicated for severe cases of Campylobacter enteritis, Salmonella enteritis, shigellosis and Primary mucosal disorders
traveller’s diarrhoea. Lactobacillus has been shown to reduce the duration of diarrhoea in Gluten-sensitive enteropathy (coeliac disease)
rotavirus-related enteritis and antibiotic-associated diarrhoea.
Tropical sprue
Diagnostic triads for diarrhoea Lactose intolerance (lactase deficiency)
Crohn disease (regional enteritis)
 Whipple disease It is widely underdiagnosed because most patients present with non-GIT symptoms, such as
Parasite infections (e.g. Giardia lamblia) tiredness.
Lymphoma
There is a genetic factor in this autoimmune disorder with a 1 in 10 chance if a first-degree
Maldigestion states relative is affected. Consider screening under 2 years if there is such an association. Page 418

Lumenal abnormalities:
Clinical features
postsurgery (e.g. gastrectomy, ileal resection)
systemic sclerosis Classic tetrad: diarrhoea, weight loss, iron/folate deficiency, abdominal bloating
Pancreatic disorders Malaise, lethargy
Chronic pancreatitis
Cystic fibrosis Flatulence
Pancreatic tumours (e.g. Zollinger–Ellison) Mouth ulceration

Diarrhoea with constipation (alternating)

The common causes are coeliac disease, chronic pancreatitis and postgastrectomy.
Pale and thin patient
Clinical features No subcutaneous fat
Bulky, pale, offensive, frothy, greasy stools
Diagnosis
Stools difficult to flush down toilet
Elevated faecal fat
Weight loss
Characteristic duodenal biopsy: villous atrophy (key test)
Prominent abdomen
Total IgA level
Failure to thrive (in infants)
IgA transglutaminase antibodies (>90% sensitivity and specificity)
Increased faecal fat
Deamidated gliadin peptide (DGP-IgG) also highly sensitive and specific
Signs of multiple vitamin deficiencies (e.g. A, D, E, K)
Associations
Sore tongue (glossitis)
Iron-deficiency anaemia
Hypochromic or megaloblastic anaemia (possible)
Malignancy, especially lymphoma, GIT
Refer for specific investigations (e.g. FBE, barium studies, small bowel biopsy, faecal fat
[>21 g/3 days]). Type 1 diabetes

Pernicious anaemia
Coeliac disease2
Primary biliary cirrhosis
Synonyms: coeliac sprue, gluten-sensitive enteropathy.
Subfertility
Note: It can appear at any age; refer to coeliac disease in children (see later in chapter).
Dermatitis herpetiformis
 IgA deficiency Males >40 years
Chronic diarrhoea (steatorrhoea)
Autoimmune thyroid disease Arthralgia (migratory seronegative arthropathy mainly of peripheral joints)
Weight loss
Osteoporosis Lymphadenopathy
± Fever
Neurological (e.g. seizures, ataxia, peripheral neuropathy)

Down syndrome Diagnoses

PCR for T. whipplei
Management Jejunal biopsy—stunted villi
Diet control: high complex carbohydrate and protein, low fat, lifelong gluten-free (no wheat,
barley, rye and oats) Treatment

Treat specific vitamin and mineral deficiencies IV ceftriaxone for 2 weeks then cotrimoxazole or tetracycline for up to 12 months.

Give pneumococcal vaccination (increased risk of pneumococcus sepsis) This produces a dramatic improvement.

Coeliac support group and Coeliac Australia Diarrhoea in the elderly

Gluten-free diet
The older the person, the more likely a late onset of symptoms that reflect serious underlying
Avoid foods containing gluten either as an obvious component (e.g. flour, bread, oatmeal) or as a organic disease, especially malignancy. Colorectal cancer needs special consideration. Frail or
hidden ingredient (e.g. dessert mix, stock cube). bedridden people have an increasing likelihood with age of faecal impaction with spurious
diarrhoea. The possibility of drug interactions (e.g. digoxin) and ischaemic colitis should also be
Forbidden foods include: considered.

standard bread, pasta, crispbreads, flour Ischaemic colitis

standard biscuits and cakes This is due to atheromatous occlusion of mesenteric vessels (low blood flow) (see
CHAPTER 24 ).
breakfast cereals made with wheat or oats

oatmeal, wheat bran, barley/barley water Clinical features

‘battered’ or breadcrumbed fish, etc. Clinical features include:

meat and fruit pies sharp abdominal pain in an elderly person with bloody diarrhoea (low blood flow)

most stock cubes and gravy mixes or

periumbilical pain and diarrhoea about 15–30 minutes after eating Page 419
Whipple disease
may be bruits over central abdomen
This is a rare malabsorption disorder usually affecting white males. It is caused by the bacillus
Tropheryma whipplei. It may involve the heart, lungs and CNS. It is fatal if missed. other evidence of generalised atherosclerosis

Clinical features barium enema shows ‘thumb printing’ sign due to submucosal oedema
 the definitive test is aortography and selective angiography of mesenteric vessels Mainly rotavirus (developed countries) and adenovirus: viruses account for about 80%

most episodes resolve—may be followed by a stricture Bacterial: C. jejuni and Salmonella sp. (two commonest), E. coli and Shigella sp.

Protozoal: G. lamblia, E. histolytica, Cryptosporidium

Diarrhoea in children
Food poisoning—staphylococcal toxin
The commonest cause of diarrhoea in children is acute infective gastroenteritis, followed by
antibiotic-induced diarrhoea. However, certain conditions that develop in infancy and childhood Differential diagnoses. These include septicaemia, urinary tract infection, intussusception,
require special attention. The presentation of small amounts of redcurrant jelly-like stool with appendicitis, pelvic abscess, partial bowel obstruction, type 1 diabetes and antibiotic reaction4
intussusception should be kept in mind. Of the many causes, only a few could be considered (see TABLE 34.9 ).
common.

Important causes of diarrhoea in children are: Table 34.9 Differential diagnosis of acute
diarrhoea and vomiting in children
infective gastroenteritis

antibiotics Bowel infection:

viruses
overfeeding (loose stools in newborn) bacteria
dietary indiscretions protozoal
food poisoning—staphylococcal toxin
toddler’s diarrhoea
Systemic infection
sugar (carbohydrate) intolerance Abdominal disorders:
food allergies (e.g. milk, soy bean, wheat, eggs) appendicitis
pelvic abscess
maternal deprivation intussusception
malabsorption states: cystic fibrosis, coeliac disease malrotation
Urinary tract infection
Note: Exclude surgical emergencies (e.g. acute appendicitis), infections (e.g. pneumonia),
septicaemia, otitis media <5 years. Antibiotic reaction
Diabetes
Acute gastroenteritis
Note: Exclude acute appendicitis and intussusception in the very young.
Note: Dehydration from gastroenteritis is an important cause of death, particularly in obese
infants (especially if vomiting accompanies the diarrhoea).
Symptoms
Definition Diarrhoea, anorexia, nausea, poor feeding, vomiting, fever (vomiting and fever may be absent)
It is an illness of acute onset of less than 10 days’ duration, associated with fever, diarrhoea Fluid stools (often watery) 10–20 per day
and/or vomiting, where there is no other evident cause for the symptoms.5
Crying—due to pain, hunger, thirst or nausea
Causes
Bleeding—uncommon (usually bacterial)
 Anal soreness fluid and loss

Viral indication: large volume, watery, typically lasts 2–3 days, systemic symptoms uncommon.

Bacterial indication: small motions, blood, mucus, abdominal pain and tenesmus. Complications:

Dehydration: must be assessed (see TABLE 34.10 ). Page 420 febrile convulsions

sugar (lactose) intolerance (common)

Table 34.10 Assessment of hydration2
septicaemia, especially Salmonella

Mild Moderate Severe Management

Body weight loss 3–5% 6–9% ≥9%
Symptoms/general Thirsty Thirsty Infants: drowsy, Management is based on the assessment and correction of fluid and electrolyte loss.5,6 Since
observations limp, cold, dehydration is usually isotonic with equivalent loss of fluid and electrolytes, serum electrolytes
Alert Restless will be normal.
Restless Lethargic sweaty, cyanotic
limbs, comatose
Irritable Note: The most accurate way to monitor dehydration is to weigh the child, preferably without
Older: clothes, on the same scale each time. However, the easiest is clinical assessment (e.g. vomiting,
apprehensive, no urine, lethargy and thirst). Perform faecal microbiological testing for routine pathogens if
cold and sweaty, there are features of severe disease.
cyanotic limbs
Commercially available oral rehydration solutions (ORS) must have levels of glucose and
Signs Normal Dry mucous Rapid feeble
sodium/potassium salts that meet WHO standards. Most brand names end in ‘-lyte’. They come
membranes, pulse
either as sachets that must be reconstituted with a specific volume of water, or ready-made
absent tears Hypotensive liquids, including frozen ice sticks. ‘Sports drinks’ are not designed for this purpose. One trial in
Tachycardia Sunken eyes and mildly dehydrated children >2 years old showed that dilute apple juice was better tolerated and
Mildly sunken fontanelles resulted in less treatment failure than ORS.7
eyes Very dry mucous
membranes If acute invasive or persistent Salmonella are present, give antibiotics (ciprofloxacin or
azithromycin).
Pinched skin test Normal (<1 Retracts slowly Retracts very
second) (1–2 seconds) slowly (>2 Avoid
seconds)
Urine output Normal Decreased Nil Drugs: antidiarrhoeals, anti-emetics and antibiotics

Treatment Oral rehydration: Oral rehydration: Admit to hospital Full-strength lemonade or similar sugary soft drink: osmotic load too high, can use if diluted 1
small consider Urgent IV part to 4 parts water but sugar may be poorly tolerated
amounts of nasogastric infusion: isotonic
fluids often tube for fluid (0.9% To treat or not to treat at home
continue steady fluid saline)
breastfeeding infusion or Start with bolus Treat at home—if family can cope, vomiting is not a problem and no dehydration.
solids after IV infusion 20 mL/kg
Admit to hospital—if dehydration or persisting vomiting or family cannot cope; also infants
24 hours <6 months and high-risk patients.
provide
maintenance
Advice to parents (for mild-to-moderate diarrhoea) Allow for continuing loss.

If applicable, remove child from day care or school and keep away from food preparation areas. Example: 8 month 10 kg child with 5% dehydration:
Advise about hygiene, including handwashing and napkin disposal. If children are not vomiting,
encourage eating and drinking as tolerated. Fluid loss = 5 × 10 × 10 = 500 mL

Maintenance = 100 × 10 = 1000 mL

General rules6,8
Total 24-hour requirement (min.) = 1500 mL
Give small amounts of fluids often
Approximate average hourly requirement = 60 mL
Return to an age-appropriate diet as soon as possible after rehydration
Aim to give more (replace fluid loss) in the first 6 hours.
Start solids after 24 hours
Rule of thumb: give 100 mL/kg (infants) and 50 mL/kg (older children) in first 6 hours.
Continue breastfeeding (should be increased in frequency, e.g. hourly)

or Days 2 and 3

Continue formula feeding if tolerated or resume it after 24 hours
Consider stool culture and test for rotavirus for symptoms that persist and worsen
Day 1
Reintroduce your baby’s milk or formula diluted to half strength (i.e. mix equal quantities of
milk or formula and water). Their normal food can be continued but do not worry that your child
Page 421 is not eating food. Solids can be commenced after 24 hours. Best to start with bread, plain
biscuits, jelly, stewed apple, rice, porridge or non-fat potato chips. Avoid fatty foods, fried foods,
raw vegetables and fruit, and wholegrain bread.

Give fluids, a little at a time and often (e.g. 5 mL every 1–2 minutes by spoon or syringe or Day 4
50 mL every 15 minutes if vomiting a lot). A good method is to give 200 mL (about 1 cup) of
fluid every time a watery stool is passed or a big vomit occurs. Increase milk to normal strength and gradually continue reintroduction to usual diet.

Use ORS if tolerated, or alternatives such as diluted apple juice if the child prefers.
Warning: Do not use straight lemonade or mix up powders with lemonade or fluids other than
water.
Alternatives are:
Breastfeeding. If your baby is not vomiting, continue breastfeeding but offer extra fluids
(preferably ORS) between feeds. If vomiting is a problem, express breast milk for the time being
while you follow the oral fluid program.
Note: Watch for lactose intolerance as a sequela—explosive diarrhoea after introducing formula.
Replace with a lactose-free formula.

lemonade (not low-calorie) 1 part to 4 parts water

sucrose (table sugar)
glucose
cordials (not low-calorie)
fruit juice (esp. apple)
1 teaspoon to 120 mL water Chronic diarrhoea in children6
1 teaspoon to 120 mL water
1 part to 16 parts water Sugar intolerance
1 part to 4 parts water
Synonyms: carbohydrate intolerance, lactose intolerance.

The commonest offending sugar is lactose.

Method of assessing fluid requirements:3
Diarrhoea often follows acute gastroenteritis when milk is reintroduced into the diet (some
Fluid loss (mL) = % dehydration × body weight (kg) × 10 recommend waiting for 2 weeks). Stools may be watery, frothy, smell like vinegar and tend to
excoriate the buttocks. They contain sugar. Exclude giardiasis.
Maintenance (mL/kg/24 h): 1–3 mo: 120 mL; 4–12 mo: 100 mL; >12 mo: 80 mL
A simple test follows. Chronic enteric infection
Line the napkin with thin plastic and collect fluid stool.
Responsible organisms include Salmonella sp., Campylobacter, Yersinia, G. lamblia and E.
histolytica. With persistent diarrhoea, it is important to obtain microscopy of faeces and aerobic
Mix 5 drops of liquid stool with 10 drops of water and add a Clinitest tablet (detects lactose
and glucose but not sucrose). and anaerobic stool cultures. G. lamblia infestation is not an uncommon finding and may be
associated with malabsorption, especially of carbohydrate and fat. Giardiasis can mimic coeliac
A positive result suggests sugar intolerance. disease.

Diagnosis: lactose breath hydrogen test. Coeliac disease

Treatment (See earlier in chapter.)

Remove the offending sugar from the diet. Clinical features in childhood:

Use milk preparations in which the lactose has been split to glucose and galactose by enzymes, usually presents at 9–18 months, but any age
or use soy protein.
previously thriving infant
Note: Most milk allergies improve with age.
anorexia, lethargy, irritability
Toddler’s diarrhoea (‘cradle crap’) failure to thrive
A clinical syndrome of loose, bulky, non-offensive stools with fragments of undigested food in a malabsorption—abdominal distension
well, thriving child. The onset is usually between 8 and 20 months. Associated with high fructose
intake (fruit juice diarrhoea). offensive frequent stools
Diagnosis by exclusion; treatment by dietary adjustment. Diagnosis: duodenal biopsy (definitive).

Cow’s milk protein intolerance8 Treatment: remove gluten from diet.

This is not as common as lactose intolerance. Diarrhoea is related to taking a cow’s milk formula Cystic fibrosis
and relieved when it is withdrawn. Page 422
Cystic fibrosis, which presents in infancy, is the commonest of all inherited disorders (1 per 2500
Allergic responses to cow’s milk protein may result in a rapid or delayed onset of symptoms. live births). Refer to CHAPTER 23 .
Delayed onset may be more difficult to diagnose, presenting with diarrhoea, malabsorption or
failure to thrive.
Acute gastroenteritis in adults
It is diagnosed by unequivocal reproducible reactions to elimination and challenge. If diagnosed,
remove cow’s milk from the diet and replace with either soy milk or a hydrolysed or an
elemental formula (see CHAPTER 72 ). Features
Invariably a self-limiting problem (1–3 days)
Inflammatory bowel disorders
Abdominal cramps
These disorders, which include Crohn disease and ulcerative colitis, can occur in childhood. A
high index of suspicion is necessary to make an early diagnosis. Approximately 5% of cases of Possible constitutional symptoms (e.g. fever, malaise, nausea, vomiting)
chronic ulcerative colitis have their onset in childhood.5
Other meal-sharers affected → food poisoning
 Consider dehydration, especially in the elderly Rest

Consider possibility of enteric fever Your bowel needs a rest and so do you. It is best to reduce your normal activities until the
diarrhoea has stopped. Page 423

Traveller’s diarrhoea
The symptoms are usually as above, but very severe diarrhoea, especially if associated with
blood or mucus, may be a feature of a more serious bowel infection such as amoebiasis. Possible
causes of diarrhoeal illness are presented in CHAPTER 129 . Most traveller’s diarrhoea is caused
by E. coli, which produces a watery diarrhoea within 14 days of arrival in a foreign country.
Another organism is Cryptosporidium parvum. If moderate to severe, azithromycin is
recommended for 2–3 days. (For specific treatment refer to the section on Traveller’s diarrhoea
in CHAPTER 129 .)
Diet
Eat as normally as possible but drink small amounts of clear fluids such as water, tea, lemonade
and yeast extract (e.g. Vegemite). Then eat low-fat foods such as stewed apples, rice (boiled in
water), soups, poultry, boiled potatoes, mashed vegetables, dry toast or bread, biscuits, most
canned fruits, jam, honey, jelly, dried skim milk or condensed milk (reconstituted with water).
At first, avoid alcohol, coffee, strong tea, fatty foods, fried foods, spicy foods, raw vegetables,
raw fruit (especially with hard skins), wholegrain cereals and cigarette smoking.

Persistent traveller’s diarrhoea
Any traveller with persistent diarrhoea after visiting less developed countries, especially India
and China, may have a protozoal infection such as amoebiasis or giardiasis.
If there is a fever and blood or mucus in the stools, suspect amoebiasis. Giardiasis is
characterised by abdominal cramps, flatulence and bubbly, foul-smelling diarrhoea.
Principles of treatment of diarrhoea
On the third day introduce dairy produce, such as a small amount of milk in tea or coffee and a
little butter or margarine on toast. Add also lean meat and fish (either grilled or steamed).
Treatment (antimicrobial drugs)2,9
Bacterial diarrhoea in adults and older children is usually self-limiting and does not require
antibiotic treatment (they may be used to shorten the course of a persistent infection).
Campylobacter, Salmonella, Shigella and E. coli are the most common causes. As a rule, use oral
rehydration solution 2–3 L orally over 24 hours if mild to moderate dehydration. If severe,
intravenous rehydration with N saline is recommended.

Acute diarrhoea It is advisable not to use antimicrobials except where the following specific organisms are
identified. The drugs should be selected initially from the list below or modified according to the
Maintenance of hydration: results of culture and sensitivity tests.3 Only treat if symptoms have persisted for more than 48
hours. Adult doses are shown for the following specific enteric infections based on faecal
anti-emetic injection (for severe vomiting) prochlorperazine IM, statim culture. Recommended empirical therapy is ciprofloxacin or norfloxacin.

or Shigella dysentery (moderate to severe)

metoclopramide IV, statim cotrimoxazole (double strength) 1 tab (o) 12 hourly for 5 days: use in children (children’s
doses)
Antidiarrhoeal preparations:
or
(avoid if possible, but loperamide preferred) loperamide (Imodium) 2 caps statim then 1 after
each unformed stool (max. 8 caps/day)
norfloxacin 400 mg (o) 12 hourly for 5 days (preferred for adults)
or
or
diphenoxylate with atropine (Lomotil) 2 tabs statim then 1–2 (o) 8 hourly
ciprofloxacin 500 mg (o) bd for 5 days
General advice to patient Giardiasis
This protozoal infestation is often misdiagnosed. It should be considered for a persistent profuse, If severe, nitazoxanide (shared care).
watery, bubbly, offensive diarrhoea (see CHAPTER 129 ).
Amoebiasis (intestinal)
tinidazole 2 g (o), single dose (may need repeat)
See CHAPTER 129 .
or
metronidazole 600–800 mg (o) tds for 6–10 days
metronidazole 400 mg (o) tds for 7 days
plus
(in children: 30 mg/kg/day [to max. 1.2 g/day] as single daily dose for 3 days)
diloxanide furoate 500 mg (o) tds for 10 days
Salmonella enteritis
Blastocystis hominis (a parasitic infection)
Antibiotics are not generally advisable, but if severe or prolonged, use:
Pathogenicity is disputed: give therapy only if severe. Associated with poor hygiene (travel, pets,
ciprofloxacin 500 mg (o) bd for 5–7 days dam/tank water, oysters).
or metronidazole for 7 days
azithromycin 1 g (o) day, then 500 mg for 6 days Specialist advice should be sought.
or
Treatment for special enteric infections
ceftriaxone IV or ciprofloxacin IV if oral therapy not tolerated
Typhoid/paratyphoid fever
Note: Salmonella is a notifiable disease; infants under 15 months are at risk of invasive
Salmonella infection. See CHAPTER 129 .

azithromycin 1 g (o) daily for 7 days

Campylobacter
or
A zoonosis that is usually self-limiting.
(if not acquired in the Indian subcontinent or South-East Asia)
Antibiotic therapy indicated in severe or prolonged cases:
ciprofloxacin 500 mg (o) 12 hourly for 7–10 days (use IV if oral therapy not tolerated)
azithromycin 500 mg (o) 12 hourly for 3 days
Page 424
If ciprofloxacin is contraindicated (e.g. in children) or not tolerated, then use:
or
ceftriaxone 3 g IV daily until culture and sensitivities available, then choose oral regimens
ciprofloxacin 500 mg (o) 12 hourly for 3 days
If severe: administer same drug and dosage IV for first 4–5 days.
or

norfloxacin 400 mg (o) 12 hourly for 5 days Cholera

Antibiotic therapy reduces the volume and duration of diarrhoea. Rehydration is the key.
Cryptosporidium species
azithromycin 1 g (child 20 mg/kg up to 1 g) (o) as a single dose
Usually self-limiting, may need fluid and electrolytes and antimotility agents.
or
 ciprofloxacin 1 g (o) as a single dose Begins in rectum (continues proximally)—affects only the colon: it usually does not spread
beyond the ileocaecal valve
For pregnant women and children:
An increased risk of carcinoma after 7–10 years
amoxicillin (child: 10 mg/kg up to) 250 mg (o) 6 hourly for 4 days
Main symptom
Inflammatory bowel disease 3
Bloody diarrhoea
Two important disorders are ulcerative colitis (UC) and Crohn disease, which have equal sex Diagnosis
incidence and can occur at any age, but onset peaks between 20 and 40 years.
Faecal calprotectin: a sensitive test
Inflammatory bowel disease (IBD) should be considered when a young person presents with:
Proctosigmoidoscopy: a granular red proctitis with contact bleeding
bloody diarrhoea and mucus
Barium enema: characteristic changes
colonic pain and fever

urgency to visit toilet and feeling of incomplete defecation Prognosis

constitutional symptoms including weight loss and malaise Mortality rates are comparable to the general population without UC10

extra-abdominal manifestations such as arthralgia, low back pain (spondyloarthropathy), eye Recurrent attacks common
problems (iridocyclitis), liver disease and skin lesions (pyoderma gangrenosum, erythema
nodosum) Crohn disease
Investigations include FBE, vitamin B12 and folate, LFTs (abnormal enzymes), HLA-B27, faecal Synonyms: regional enteritis, granulomatous colitis.
calprotectin (if normal, no intestinal inflammation; if abnormal, needs colonoscopy) and
lactoferrin. The cause is unknown but there is a genetic link.

Ulcerative colitis Clinical features

Recurrent diarrhoea in a young person (15–40 years)
Clinical features
Blood and mucus in stools (less than UC)
Mainly a disease of Western societies
Colicky abdominal pain (small bowel colic)
Mainly in young adults (15–40 years)
Right iliac fossa pain (confused with appendicitis)
High-risk factors—family history, previous attacks, low-fibre diet
Constitutional symptoms (e.g. fever, weight loss, malaise, anorexia, nausea)
Recurrent attacks of loose stools
Signs include perianal disorders (e.g. anal fissure, fistula, ischiorectal abscess), mouth ulcers
Blood, or blood and pus, or mucus in stools
Skip areas in bowel: ½ ileocolic, ¼ confined to small bowel, ¼ confined to colon, 4% in upper
Abdominal pain slight or absent
GIT
Fever, malaise and weight loss uncommon
Main symptom
 Colicky abdominal pain Irritable bowel syndrome (IBS)3,9,12
Diagnosis Clinical features
Sigmoidoscopy: ‘cobblestone’ appearance (patchy mucosal oedema) Typically in younger women (21–40 years)
Colonoscopy: useful to differentiate from UC Any age or sex can be affected
Biopsy with endoscopy May follow attack of gastroenteritis/traveller’s diarrhoea
Prognosis Cramping abdominal pain (central or iliac fossa)—see FIGURE 34.4
Less favourable than UC with both medical and surgical treatment. Pain usually relieved by passing flatus or by defecation
A 20-year Norway study showed a 1.3 times mortality risk compared to a matched population
without Crohn disease.11 Page 425 Variable bowel habit (constipation more common)

Management principles of both Diarrhoea usually worse in morning—several loose, explosive bowel actions with urgency

Education and support, including support groups The Bristol stool chart was devised to assist with the subclassification of stool types and bowel
habits (see: www.continence.org.au/pages/bristol-stool-chart.html)
Treat under consultant supervision
Often precipitated by eating
Treatment of acute attacks depends on severity of the attack and the extent of the disorder:
Faeces sometimes like small hard pellets or ribbon-like
mild attacks: manage out of hospital
Anorexia and nausea (sometimes)
severe attacks: hospital, to attend to fluid and electrolyte balance
Bloating, abdominal distension, borborygmi
Role of diet controversial: consider a high-fibre diet but maintain adequate nutrition
Tiredness common
Pharmaceutical agents (the following can be considered):

5-aminosalicylic acid derivatives (mainly UC): sulfasalazine (mainstay), olsalazine,

mesalazine. Usually start with these agents

corticosteroids (mainly for acute flares): oral, parenteral, topical (rectal foam, suppositories
or enemas)

for severe disease, immunomodifying drugs (e.g. azathioprine, cyclosporin, methotrexate)

and anti-TNF and biological agents (e.g. adalimumab, vedolizumab, infliximab)

Surgical treatment: reserve for complications; avoid surgery if possible

Alternating diarrhoea and constipation

Alternating diarrhoea and constipation are well-known symptoms of incomplete bowel
obstruction (cancer of colon and diverticular disease) and irritable bowel syndrome.
 FIGURE 34.4 Classic symptoms of irritable bowel syndrome
Red flag pointers for non-IBS disease15
The Rome III diagnostic criteria for IBS are presented in TABLE 34.11 .
Age of onset >50 years
Table 34.11 Rome III diagnostic criteria for irritable bowel syndrome*13 Fever

Unexplained weight loss

In the preceding 3 months, the patient has had abdominal discomfort for at least 3
days per month with two of the following three features: Rectal bleeding
relieved by defecation
Pain waking at night
onset associated with a change in stool frequency
onset associated with a change in form (appearance) of stool (loose, watery or Persistent daily diarrhoea/steatorrhoea
pellet-like)
Symptoms that cumulatively support the diagnosis of irritable bowel syndrome: Recurrent vomiting
abnormal stool frequency (for research purposes may be defined as more than Major change in symptoms
three bowel movements per day or fewer than three bowel movements per
week) Mouth ulcers
abnormal stool form (lumpy/hard or watery/mushy)
abnormal stool passage (straining, urgency or feeling of incomplete ↑ CRP, ESR
evacuation)
Anaemia
passage of mucus
bloating or feeling of abdominal distension Family history of bowel cancer or IBD

Note: Red flags must be excluded

*in absence of structural or metabolic abnormalities to explain symptoms
Self-help advice to the patient
Anyone with IBS should try to work on the things that make the symptoms worse. If you
IBS is a diagnosis of exclusion. A thorough physical examination, investigations (FBE, ESR and
recognise stresses and strains in your life, try to develop a more relaxed lifestyle. You may have
stool microscopy or culture) and colonoscopy are necessary. Insufflation of air at colonoscopy
to be less of a perfectionist in your approach to life.
may reproduce the abdominal pain of IBS. Page 426

Possible related causes
These include bowel infection, food irritation (e.g. spicy foods), lactose (milk) intolerance,
excess-fibre wheat products, high fatty foods, carbonated drinks, laxative overuse, use of
antibiotics and codeine-containing analgesics, psychological factors.
Management
The patient must be reassured and educated with advice that the problem will not cause
malignancy or inflammatory bowel disease and will not shorten life expectancy. The basis of
initial treatment is simple dietary modification (FODMAPs),14 exercise, fluids (2–3 L water
daily) and non-fermentable fibre.
Focus on establishing a regular eating pattern. Try to avoid any foods that you can identify as
causing the problem. You may have to cut out smoking and alcohol and avoid laxatives and
codeine (in painkillers). A high-fibre (non-fermentable) and low-carbohydrate diet and 2–3 L of
water a day may be the answer to your problem.
A low-FODMAP diet can produce good benefits.11,13,16 FODMAP refers to fermentable
oligosaccharides, disaccharides, monosaccharides and polyols, which are poorly absorbed. All of
these carbohydrates need to be eliminated (under a dietitian’s guidance), then reintroduced one at
a time.
See: www.med.monash.edu/cecs/gastro/fodmap, available as an app—the Monash University
Low-FODMAP Diet.
 Diverticular disorder Barium enema

Diverticular disorder is a problem of the colon (90% in descending colon) and is related to lack Management
of fibre in the diet. It is usually symptomless.
It usually responds to a high-fibre diet.
Clinical features Avoidance of constipation.
Typical in middle-aged or elderly—over 40 years
Advice to the patient
Increases with age
The gradual introduction of fibre with plenty of fluids (especially water) will improve any
Present in one in three people over 60 years (Western world) symptoms you may have and reduce the risk of complications. Your diet should include:
Page 427
Diverticulosis—symptomless 1. cereals, such as bran, shredded wheat, muesli or porridge

Diverticulitis—infected diverticula and symptomatic (refer CHAPTER 24 ) 2. wholemeal and multigrain breads

Constipation or alternating constipation/diarrhoea 3. fresh or stewed fruits and vegetables

Intermittent cramping lower abdominal pain in LIF Bran can be added to your cereal or stewed fruit, starting with 1 tablespoon and gradually
increasing to 3 tablespoons a day. Fibre can make you feel uncomfortable for the first few weeks,
Tenderness in LIF but the bowel soon settles with your improved diet.

Rectal bleeding—may be profuse (± faeces)

When to refer
May present as acute abdomen or subacute obstruction

Usually settles in 2–3 days Children with diarrhoea

Complications (of diverticulitis) Infant under 3 months

Moderate to severe dehydration

Bleeding—may cause massive lower GIT bleeding
Diagnosis of diarrhoea and vomiting in doubt (e.g. blood in vomitus or stool, bile-stained
Abscess
vomiting, high fever or toxaemia, abdominal signs suggestive of appendicitis or obstruction)
Perforation
Failure to improve or deterioration
Peritonitis
A pre-existing chronic illness
Obstruction (refer CHAPTER 24 )
Adults with diarrhoea
Fistula—bladder, vagina
Patient with chronic or bloody diarrhoea
Investigations
Any problem requiring colonoscopic investigation
WBC and ESR—to determine inflammation
Patients with anaemia
Sigmoidoscopy
Patients with weight loss, abdominal mass or suspicion of neoplasia
Patients with anal fistulae
Patients not responding to treatment for giardiasis
Infection with E. histolytica
Long-term asymptomatic carrier of typhoid or paratyphoid fever
Patient with persistent undiagnosed nocturnal diarrhoea
Patients with IBS with a significant change in symptoms
Patients with inflammatory bowel diseases with severe exacerbations, possibly requiring
immunosuppressive therapy and with complications
Patients with ulcerative colitis of more than 7 years’ duration (screening by colonoscopy for
carcinoma)
Practice tips
Oral antidiarrhoeal drugs are contraindicated in children; besides being ineffective
they may prolong intestinal recovery.
Anti-emetics can readily provoke dystonic reactions in children, especially if young
and dehydrated.
Acute diarrhoea is invariably self-limiting (lasts 2–5 days). If it lasts longer than 7
days, investigate with culture and microscopy of the stools.
If diarrhoea is associated with episodes of facial flushing or wheezing, consider
carcinoid syndrome.
Recurrent pain in the right hypochondrium is usually a feature of IBS (not gall
bladder disease).
Recurrent pain in the right iliac fossa is more likely to be IBS than appendicitis.
Beware of false correlations or premature conclusions (e.g. attributing the finding
of diverticular disorder on barium meal to the cause of the symptoms).
Undercooked chicken is a common source of enteropathic bacterial infection.
Consider alcohol abuse if a patient’s diarrhoea resolves spontaneously on hospital
admission.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Coeliac disease in adults
Coeliac disease in children
Cystic fibrosis
Diarrhoea—acute diarrhoea in adults
Diverticular disease
Gastroenteritis in children
Inflammatory bowel disease
Page 428
References
1 Bolin T, Riordan SM. Acute and persistent diarrhoea. Current Therapeutics, 2001; May:
47–57.
2 Cheng AC et al. Australasian Society for Infectious Diseases guidelines for the diagnosis
and treatment of Clostridium difficile infection. Med J Aust, 2011; 194(7): 353–8.
3 Supportive measures of gastroenteritis [published 2016]. In: Therapeutic Guidelines
[digital]. Melbourne: Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed
October 2019.
4 Dalton C. Foodborne illness: how to treat. Australian Doctor, 15 April; 2005: 39–46.
5 Robinson MJ, Roberton DM. Practical Paediatrics (5th edn). Edinburgh: Churchill
Livingstone, 2003: 675–90.
6 Oberklaid F. Management of gastroenteritis in children. In: The Australian Paediatric
Review. Melbourne: Royal Children’s Hospital, 1990: 1–2.
7 Freedman S et al. Effect of dilute apple juice and preferred fluids versus electrolyte
maintenance solution on treatment failure among children with mild gastroenteritis: a
randomized clinical trial. JAMA, 2016; 315(18): 1966–74.
8 Gwee A, Rimer R, Marks M. Paediatric Handbook (9th edn). Oxford: Wiley-Blackwell,
2015: 90–5.
9 Onwuezobe IA et al. Antimicrobials for treating symptomatic non-typhoidal Salmonella
 infection (Cochrane Review). Cochrane Database Syst Rev, 2012; Issue 11: Art No.
CD001167. Page 429

10 Manninen P et al. Mortality in ulcerative colitis and Crohn’s disease: a population-based

study in Finland. J Crohns Colitis, June 2012; 6(5): 524–8.

11 Hovde Ø et al. Mortality and causes of death in Crohn’s disease: results from 20 years of
follow-up in the IBSEN study. Gut, 2014; 63: 771–5.
35 Dizziness/vertigo
12 NICE. Irritable bowel syndrome in adults: diagnosis and management of irritable bowel
syndrome in primary care, 2008. Available from: www.nice.org.uk, accessed 25 May
2018.

13 Rome Foundation. Rome III diagnostic criteria for functional gastrointestinal disorders. J I got my giddiness in 1690 (at the age of 23) by eating 100 golden pippins at a time at Richmond.
Four years later at a place 20 miles further on in Surrey I got my deafness; and these two
Gastrointestin Liver Dis, 2006; 15(3): 307–12.
‘friends’ have visited me one or other year since, and being old acquaintances have often sought
14 Gibson PR. Irritable bowel syndrome. Australian Doctor, 13 April 2012: 17–34. fit to come together.

15 Ellard K, Malcolm A. Irritable bowel syndrome. Medical Observer, 30 March 2007: 29– JONATHAN SWIFT (1667–1745), DESCRIBING HIS MÉNIÈRE SYNDROME
32.
When patients complain of ‘dizziness’, they can be using this term to describe many different
16 Gibson PR, Shepherd SJ. Evidence-based dietary management of functional phenomena, and hence a careful history is required to unravel the problem. Others may use
gastrointestinal symptoms: the FODMAP approach. J Gastroenterol Hepatology, 2010; different terms, such as ‘giddiness’, ‘swimming in the head’, ‘my brain spinning’, ‘whirling’ and
Feb 25(2): 2528. ‘swinging’.

‘Dizzy’ comes from an old English word, dysig, meaning foolish or stupid. Strictly speaking, it
means unsteadiness or lightheadedness—without movement, motion or spatial disorientation.

‘Vertigo’, on the other hand, comes from the Latin vertere (to turn) and -igo for a condition. It
should describe a hallucination of rotation of self or the surroundings in a horizontal or vertical
direction.1

The term ‘dizziness’, however, is generally used collectively to describe all types of equilibrium
disorders and, for convenience, can be classified as shown in FIGURE 35.1 .
 Vertigo is defined as an episodic sudden sensation of circular motion of the body or of its
surroundings or an illusion of motion, usually a rotatory sensation. Other terms used to describe
this symptom include ‘everything spins’, ‘my head spins’, ‘the room spins’, ‘whirling’, ‘reeling’,
‘swaying’, ‘pitching’ and ‘rocking’. It is frequently accompanied by autonomic symptoms such
as nausea, retching, vomiting, pallor and sweating.

Vertigo is characteristically precipitated by standing, by turning the head or by movement.

Patients have to walk carefully and may become nervous about descending stairs or crossing the
road, and usually seek support. Therefore, the vertiginous person is usually very frightened and
tends to remain immobile during an attack and may feel their feet being lifted under them.

Patients may feel as though they are being impelled by some outside force that tends to pull them
to one side, especially while walking.

True vertigo is a symptom of disturbed function involving the vestibular system or its Page 430
central connections. It invariably has an organic cause. Important causes are presented
in TABLE 35.1 , while FIGURE 35.2 illustrates central neurological centres that can cause
FIGURE 35.1 Classification of dizziness vertigo. Some features of central vertigo include gait ataxia out of proportion to vertigo, diplopia,
hemisensory loss, slurred speech, difficulty swallowing and abnormal eye movements. With
peripheral vertigo, hearing loss, tinnitus, ear fullness and a positive head impulse test may be
Key facts and checkpoints present.2

Approximately one-third of the population will have suffered from significant

Table 35.1 Causes of vertigo
dizziness by age 65 and about a half by age 80.2

The commonest causes in family practice are postural hypotension and Peripheral disorders
hyperventilation.
Labyrinth:
The ability to examine and interpret the sign of nystagmus accurately is important in labyrinthitis: viral or suppurative
the diagnostic process. Ménière syndrome
A drug history is very important, including prescribed drugs and others such as benign paroxysmal positional vertigo (BPPV)
alcohol, cocaine, marijuana and illicit drugs. drugs
trauma
Ménière syndrome is overdiagnosed. It has the classic triad: vertigo–tinnitus–
chronic suppurative otitis media
deafness (sensorineural).
Eight nerve:
Vertebrobasilar insufficiency is also overdiagnosed as a cause of vertigo. It is a rare vestibular neuronitis
cause but may result in dizziness and sometimes vertigo but rarely in isolation. acoustic neuroma
drugs
Cervical vertigo
Defined terminology Central disorders
Brain stem (TIA or stroke):
Vertigo 2
vertebrobasilar insufficiency
infarction
 Cerebellum: Giddiness is also a typical psychoneurotic symptom.
degeneration
tumours Syncopal episodes
Migraine
Multiple sclerosis Syncope may present as a variety of dizziness or lightheadedness in which there is a sensation of
impending fainting or loss of consciousness. Presyncope is a sensation of feeling faint. Common
causes are cardiogenic disorders and postural hypotension, which are usually drug-induced.

Disequilibrium
Disequilibrium implies a condition in which there is a loss of balance or instability while
walking, without any associated sensations of spinning. Other terms used to describe this include
‘unsteadiness on feet’, ‘the staggers’, ‘swaying feeling’ and ‘dizzy in the feet’.

Disequilibrium is usually of neurogenic origin.

A diagnostic approach
A summary of the diagnostic strategy model is presented in TABLE 35.2 .

Table 35.2 Dizziness/vertigo: diagnostic strategy

model

Probability diagnosis
Anxiety-hyperventilation (G)
Postural hypotension (G/S)
FIGURE 35.2 Diagrammatic illustration of central centres that can cause Simple faint—vasovagal (S)
vertigo Acute vestibulopathy (V)
Benign paroxysmal positional vertigo (V)
Nystagmus is often seen with vertigo and, since 80–85% of causes are due to an ear problem, Motion sickness (V)
tinnitus and hearing disorders are also occasionally associated. In acute cases there is usually a
Vestibular migraine (V)
reflex autonomic discharge producing sweating, pallor, nausea and vomiting.
Cervical dysfunction/spondylosis

Giddiness Serious disorders not to be missed

Neoplasia:
Giddiness is a sensation of uncertainty or ill-defined lightheadedness. Other terms used include
acoustic neuroma
‘a swimming sensation’, ‘walking on air’ and ‘ground going beneath me’. It usually contains no
elements of rotation, impulsion, tinnitus, deafness, nausea or vomiting. Page 431
posterior fossa tumour
other brain tumours, primary or secondary
The patient with giddiness, although fearful of falling or swooning, can nonetheless walk without Intracerebral infection (e.g. abscess)
difficulty if forced to do so.
Cardiovascular:
 G = giddiness; S = syncope; V = vertigo
arrhythmias
myocardial infarction
aortic stenosis
Cerebrovascular:
Probability diagnosis
vertebrobasilar insufficiency In medical school we gain the wrong impression that the common causes of dizziness or vertigo
brain-stem infarct (e.g. PICA thrombosis) are the relatively uncommon causes, such as Ménière syndrome, aortic stenosis, Stokes–Adams
Multiple sclerosis attacks, cerebellar disorders, vertebrobasilar disease and hypertension. In the real world of
Carbon monoxide poisoning medicine, one is impressed by how often dizziness is caused by relatively common benign
conditions, such as hyperventilation associated with anxiety, simple syncope, postural
Pitfalls (often missed) hypotension due to drugs and old age, inner ear infections, wax in the ears, post head injury,
Ear wax (G) motion sickness and alcohol intoxication. In most instances making the correct diagnosis (which,
as ever, is based on a careful history) is straightforward, but finding the underlying cause of true
Otosclerosis vertigo can be very difficult.
Arrhythmias
Hyperventilation The common causes of vertigo seen in general practice are benign paroxysmal positional vertigo
Alcohol and other drugs (BPPV), accounting for about 25% of cases, acute vestibulopathy (vestibular neuronitis) and
vestibular migraine.
Cough or micturition syncope
Vestibular migraine/migrainous vertigo Viral labyrinthitis is basically the same as vestibular neuronitis, except that the whole of the
Parkinson disease inner ear is involved so that deafness and tinnitus arise simultaneously with severe vertigo. The
Ménière syndrome (overdiagnosed) most common causes of recurrent spontaneous vertigo are vestibular migraine and Ménière
syndrome. Page 432
Rarities:
Addison disease (CHAPTER 14 )
Serious disorders not to be missed
neurosyphilis
autonomic neuropathy Neoplasia
hypertension
subclavian steal The important serious disorders to keep in mind are space-occupying tumours, such as acoustic
perilymphatic fistula neuroma, medulloblastoma and other tumours (especially posterior fossa tumours) capable of
causing vertigo, intracerebral infections and cardiovascular abnormalities.
Shy–Drager syndrome
It is important to bear in mind that the commonest brain tumour is a metastatic deposit from lung
Seven masquerades checklist
cancer.3
Depression
Diabetes (possible: hypo/hyper)
Drugs Red flags for dizziness/vertigo
Anaemia
Thyroid disorder (possible) Neurological signs
Spinal dysfunction Ataxia out of proportion to vertigo
UTI (possible)
Nystagmus out of proportion to vertigo
Is the patient trying to tell me something?
Very likely. Consider anxiety and/or depression. Central nystagmus
 Central eye movement abnormalities Wax in the ear certainly causes dizziness, though its mechanism of action is controversial. Cough
and micturition syncope do occur, although they are uncommon.

Ménière syndrome is a pitfall in the sense that it tends to be overdiagnosed.

Acoustic neuroma
This uncommon tumour should be suspected in the patient presenting with the symptoms shown
in the diagnostic triad below. Headache may occasionally be present.
DxT (unilateral) tinnitus + hearing loss + unsteady gait → acoustic
neuroma
Seven masquerades checklist
Of these conditions, drugs and vertebral dysfunction (of the cervical spine) stand out as
important causes. Depression demands attention because of the possible association of anxiety
and hyperventilation.

Diabetes mellitus has an association through the possible mechanisms of hypoglycaemia from
Diagnosis is best clinched by high-resolution MRI. Audiometry and auditory evoked responses therapy or from an autonomic neuropathy.
are also relevant investigations.
Drugs
Cardiac disorders
Drugs usually affect the vestibular nerve rather than the labyrinth. Drugs commonly associated
Cardiac disorders that must be excluded for giddiness or syncope are the various arrhythmias, with dizziness are presented in TABLE 35.3 .
such as Stokes–Adams attacks caused by complete heart block, aortic stenosis and myocardial
infarction.
Table 35.3 Drugs that can cause dizziness
Cerebrovascular causes
Alcohol
The outstanding cerebrovascular causes of severe vertigo are vertebrobasilar insufficiency and
brain-stem infarction. Vertigo is the commonest symptom of transient cerebral ischaemic attacks Antibiotics: streptomycin, gentamicin, kanamycin, tetracyclines
in the vertebrobasilar distribution.1 Antidepressants
Anti-epileptics: phenytoin
Severe vertigo, often in association with hiccoughs and dysphagia, is a feature of the variety of Antihistamines
brain-stem infarctions known as the lateral medullary syndrome due to posterior inferior
Antihypertensives
cerebellar artery (PICA) thrombosis. There is a dramatic onset of vertigo with cerebellar signs,
including ataxia and vomiting. There are ipsilateral cranial nerve (brain stem) signs with Aspirin and salicylates
contralateral spinothalamic sensory loss of the face and body. Diagnosis is by CT or MRI Cocaine, cannabis
scanning. Diuretics in large doses: intravenous frusemide, ethacrynic acid
Glyceryl trinitrate
Neurological causes
Quinine: quinidine
Important neurological causes of dizziness are multiple sclerosis and complex partial seizures. Tranquillisers: phenothiazines, phenobarbitone, benzodiazepines

The lesions of multiple sclerosis may occur in the brain stem or cerebellum. Young patients who
present with a sudden onset of vertigo with ‘jiggly’ vision but without auditory symptoms should
be considered as having multiple sclerosis. Five per cent of cases of multiple sclerosis present
with vertigo.
Pitfalls
A list of conditions causing dizziness that may be misdiagnosed is presented in TABLE 35.2 .
Page 433
Cervical spine dysfunction
It is not uncommon to observe vertigo in patients with cervical spondylosis or post cervical
spinal injury. It has been postulated4 that this may be caused by the generation of abnormal
impulses from proprioceptors in the upper cervical spine, or by osteophytes compressing the
vertebral arteries in the vertebral canal. Some instances of BPPV are associated with disorders of
the cervical spine.
Psychogenic considerations Any drugs being taken?

alcohol?
This may be an important aspect to consider in the patient presenting with dizziness, especially if
the complaint is giddiness or lightheadedness. An underlying anxiety, particularly agoraphobia
marijuana?
and panic disorder, may be the commonest cause of this symptom in family practice and clinical
investigation of hyperventilation may confirm the diagnosis. The possibility of depression must hypotensives?
also be kept in mind.5 Many of these patients harbour the fear that they may be suffering from a
serious disorder, such as a brain tumour or multiple sclerosis, or face an impending stroke or psychotropics?
insanity. Appropriate reassurance to the contrary is often positively therapeutic for that patient.
other drugs?
The clinical approach
Examination
The essentials of the diagnostic approach include careful attention to the history and physical
A full general examination is appropriate with particular attention being paid to the
examination, and judicious selection of specific office tests and special investigations.
cardiovascular and central nervous systems and the auditory and vestibular mechanisms.

History Guidelines
It is important to get patients to explain the precise nature of the symptoms, even asking their Examination guidelines are:
opinion as to the cause of their dizziness.
1. ear disease:
Key questions
auroscopic examination: ?wax, ?drum
The following questions should be addressed:
hearing tests
Is it vertigo or pseudovertigo?
Weber and Rinne tests
Symptom pattern:
2. the eyes:
paroxysmal or continuous?
visual acuity
effect of position and change of posture?
test movements for nystagmus
Any aural symptoms? Tinnitus? Deafness?
3. cardiovascular system:
Any visual symptoms?
evidence of atherosclerosis
Any neurological symptoms?
blood pressure: supine, standing, sitting
Any nausea or vomiting?
cardiac arrhythmias
Any symptoms of psychoneurosis?
4. cranial nerves:
Any recent colds?
2nd, 3rd, 4th, 6th and 7th
Any recent head injury (even trivial)?
corneal response for 5th
 8th—auditory nerve Haemoglobin
5. the cerebellum or its connections: Blood glucose
ECG: ?Holter monitor
gait Audiometry
coordination Brain-stem evoked audiometry
Caloric test
reflexes Visual evoked potentials (MS)
Electrocochleography
Romberg test
Electro-oculography (electronystagmography)
finger–nose test: ?past pointing Rotational tests
Radiology:
6. the neck, including cervical spine
chest X-ray (?bronchial carcinoma)
7. general search for evidence of: cervical spine X-ray
CT scan
anaemia
MRI (the choice to locate acoustic neuroma or other tumour—may detect MS
polycythaemia and vascular infarction)

alcohol dependence
Office tests for dizziness
Ask the patient to perform any manoeuvre that may provoke the symptom.
Carry out head positional testing to induce vertigo and/or nystagmus (e.g. Hallpike manoeuvre
in FIG. 35.3 or head impulse test/head thrust). Avoid if prominent spontaneous vertigo and
nystagmus.
The 3-part HINTS test (head impulse, nystagmus, test of skew) is useful for distinguishing the
cause of vertigo as either central (urgent) or peripheral. Page 434
Take blood pressure measurements in three positions.
Perform forced hyperventilation (20–25 breaths per minute) for 2 minutes.
Carry out palpation of carotid arteries and carotid sinus (with care).
Investigations
Appropriate laboratory tests should be selected from TABLE 35.4 . referral because of the possibility of tumours, such as a medulloblastoma. A study by Eviatar6 of
Investigations (select only if indicated)
Table 35.4
Diagnostic guidelines
A sudden attack of vertigo in a young person following a recent URTI is suggestive of
vestibular neuritis.
Dizziness is a common symptom in menopausal women and is often associated with other
features of vasomotor instability.
Phenytoin therapy can cause cerebellar dysfunction.
Postural and exercise hypotension are relatively common in the older atherosclerotic patient.
Acute otitis media does not cause vertigo but chronic otitis media can, particularly if the
patient develops a cholesteatoma, which then erodes into the internal ear causing a
perilymphatic fistula.
Dizziness in children
Dizziness is not a common symptom in children. Vertigo can have sinister causes and requires
vertigo in children found that the commonest cause was a seizure focus particularly affecting the
temporal lobe. Other causes included psychosomatic vertigo, vestibular migraine and vestibular
neuritis.
Apart from the above causes it is important to consider: arrhythmias as a cause of syncopal symptoms increases with age. Page 435

infection (e.g. meningitis, meningoencephalitis, cerebral abscess)

‘Dizzy turns’ in elderly women
trauma, especially to the temporal area
If no cause such as hypertension is found, advise them to get up slowly from sitting or lying, and
middle-ear infection to wear firm elastic stockings.

labyrinthitis (e.g. mumps, measles, influenza) Common general conditions

BPPV (short-lived attacks of vertigo in young children between 1 and 4 years of age: tends to
precede adulthood migraine)7 Acute vestibulopathy (vestibular failure)
hyperventilation Causes:
drugs—prescribed vestibular neuritis
illicit drugs (e.g. cocaine, marijuana) stroke—AICA or PICA
cardiac arrhythmias Vestibular neuritis covers both vestibular neuronitis and labyrinthitis, which are considered to be
a viral infection of the vestibular nerve and labyrinth respectively, causing a prolonged attack of
alcohol toxicity
vertigo that can last for several days and be severe enough to require admission to hospital.8 This
A common trap is the acute effect of alcohol in curious children who can present with the sudden is more likely with labyrinthitis.
onset of dizziness.
It is analogous to a viral infection of the 7th nerve causing Bell palsy. The attack is similar to
Ménière syndrome except that there is no hearing disturbance.
‘Dizzy turns’ in girls in late teens
These are commonly due to blood pressure fluctuations. DxT acute vertigo + nausea + vomiting → vestibular neuronitis

Give advice related to reducing stress, lack of sleep and excessive exercise.

Reassure that it settles with age (rare after 25 years). DxT same symptoms + hearing loss ± tinnitus → acute labyrinthitis

Dizziness in the elderly

Characteristic features
Dizziness is a relatively common complaint of the elderly. Common causes include postural
hypotension related mainly to drugs prescribed for hypertension or other cardiovascular Single attack of vertigo without tinnitus or deafness
problems. Cerebrovascular disease, especially in the areas of the brain stem, is also relevant in
Usually preceding ‘flu-like’ illness
this age group. True vertigo can be produced simply by an accumulation of wax in the external
auditory meatus, being more frequent than generally appreciated. Mainly in young adults and middle age
Middle-ear disorder is also sometimes the cause of vertigo in an older person but disorder of the Abrupt onset with vertigo, ataxia, nausea and vomiting
auditory nerve, inner ear, cerebellum, brain stem and cervical spine are common underlying
factors. Generally lasts days to weeks
Malignancy, primary and secondary, is a possibility in the elderly. The possibility of cardiac Examination shows lateral or unidirectional nystagmus—rapid component away from side of
 lesion (no hearing loss)

Caloric stimulation confirms impaired vestibular function

A short course of corticosteroids often promotes recovery (e.g. prednisolone 1 mg/kg (up to
It is basically a diagnosis of exclusion. 100 mg) (o) daily in morning for 5 days, then taper over 15 days and cease).1,9

Treatment Outcome

Rest in bed, lying very still Both are self-limiting disorders and usually settle over 5–7 days or several weeks. Labyrinthitis
usually lasts longer and during recovery rapid head movements may bring on transient vertigo.
Gaze in the direction that eases symptoms
Benign paroxysmal positional vertigo
The following drugs can be used for the first 2 days (see TABLE 35.5 ):
BPPV is a common type of acute vertigo that is induced by changing head position—particularly
prochlorperazine (Stemetil) 5–10 mg (o) 6–8 hrly or 12.5 mg IM (if severe vomiting), but may
tilting the head backwards, changing from a recumbent to a sitting position or turning to the
slow recovery
affected side.
or
Features
promethazine 10–25 mg IM or slow IV, then 10–25 mg (o) for 48 hrs
Affects all ages, especially the elderly
or
The female to male ratio is 2:1
ondansetron 4–8 mg (o) 2–3 hrly
Recurs periodically for several days
or (recommended as best)
Each attack is brief, usually lasts 10–60 seconds and subsides rapidly
diazepam (which decreases brain-stem response to vestibular stimuli)2 5–10 mg IM for the
acute attack (care with respiratory depression), then 5 mg (o) tds for 2–3 days Severe vertigo on getting out of bed Page 436

Can occur on head extension and turning head in bed

Table 35.5 Symptomatic relief of acute vertigo: Attacks are not accompanied by vomiting, tinnitus or deafness (nausea may occur)
pharmaceutical options10
In one large series 17% were associated with trauma, 15% with viral labyrinthitis, while about
50% had no clear predisposing factor other than age. One accepted theory of causation is that
Anti-emetics: fine pieces of floating crystalline calcium carbonate deposits (otoconia) that are loose in the
prochlorperazine labyrinth settle in the posterior semicircular canal and generate endolymphatic movement.11 It
metoclopramide may also be a variation of cervical dysfunction.
ondansetron
Diagnosis is confirmed by head position testing: head impulse (head thrust) test or Hallpike
Antihistamines: manoeuvre (refer to YouTube for these manoeuvres).12 In the latter, from a sitting position,
promethazine the patient’s head is rapidly taken to a head-hanging position 30° below the level of the couch
betahistine —do three times, with the head (1) straight, (2) rotated to the right, (3) rotated to the left. Hold
on for 30 seconds and observe the patient carefully for vertigo and nystagmus. There is a
Benzodiazepines (short period use for vertigo): latent period of a few seconds before the onset of the symptoms—see FIGURE 35.3 .
diazepam
Tests of hearing and vestibular function are normal
lorazepam
 There is usually spontaneous recovery in weeks (most return to regular activity after 1 week) instructed to perform positional exercises to induce vertigo, hold this position until it subsides,
and repeat this many times until the manoeuvre does not precipitate vertigo. The attacks then
Recurrences are common: attacks occur in clusters usually subside in a few days.

Therapist-performed exercises. Physical manoeuvres performed as an office procedure include

the Epley and Semont manoeuvres, which aim to dislodge otoliths from a semicircular canal. The
Epley manoeuvre has a high (77%) success rate on the initial attempt and up to 100% on further
attempts.2

Surgical treatment

Rarely surgical treatment is required; it involves occlusion of the posterior semicircular canal
rather than selective neurectomy.

Ménière syndrome
This is caused by a build-up of endolymph.

It is an uncommon condition which is commonest in the 30–50 years age group.

It is characterised by paroxysmal attacks of vertigo, tinnitus, nausea and vomiting, sweating

and pallor, deafness (progressive).

FIGURE 35.3 Hallpike manoeuvre: positional testing for benign paroxysmal
positional vertigo (head rotated to 45° then taken rapidly from a sitting position
to a hanging position). Repeat with head turned to the opposite side. A positive
response is the onset of symptoms ± nystagmus with the affected ear
lowermost.
Onset is abrupt—patient may fall and then be bedridden for 1–2 hours. Patient doesn’t like
moving head.
Attacks last 30 minutes to several hours.
There is a variable interval between attacks (twice a month to twice a year).

Management Nystagmus is observed only during an attack (often to side opposite affected inner ear).

Give appropriate explanation and reassurance Examination:

Avoidance measures: encourage the patient to move in ways that avoid the attack sensorineural deafness (low tones)

Drugs are not recommended—usually ineffective caloric test: impaired vestibular function

audiometry: sensorineural deafness, loudness recruitment

Special exercises
special tests
Cervical traction may help
There are characteristic changes in electrocochleography. Page 437
Particle repositioning manoeuvres
DxT vertigo + vomiting + tinnitus + sensorineural deafness → Ménière
Patient-performed exercises. Most patients appear to benefit from exercise, such as the Brandt– syndrome
Daroff procedure13 or the Cawthorne–Cooksey exercises10 that consist essentially of repeatedly
inducing the symptoms of vertigo. Rather than resorting to avoidance measures, the patient is
Treatment equivalent whereby the vertigo replaces the symptoms of headache, which may be an
inconspicuous feature in some cases. Nausea and vomiting may be present. Pizotifen or
The aim is to reduce endolymphatic pressure by reducing the sodium and water content of the propranolol are recommended for prophylaxis and a triptan for an attack.1
endolymph.

Prophylaxis
When to refer16
hydrochlorothiazide 25 mg (o) daily or with triamterene or amiloride combination (o) once Vertigo of uncertain diagnosis, especially in children
daily.
Possibility of tumour or bacterial infection
Acute attack1,14 Vertigo in presence of suppurative otitis media despite antibiotic therapy
Anticipation of attack (fullness, tinnitus): Presumed viral labyrinthitis not abating after 3 months
prochlorperazine 25 mg suppository Vertigo following trauma
Treatment: Presumed Ménière syndrome, not responding to conservative medical management
For severe attack, diazepam 5 mg IV ± prochlorperazine 12.5 mg IM, or if episodic, a diuretic, Evidence of vertebrobasilar insufficiency
e.g. hydrochlorothiazide 25 mg (o) daily
Other neurological symptoms (including headache) and signs
Long term
BPPV persisting for more than 12 months despite treatment with particle repositioning
Reassurance with a careful explanation of this condition to the patient, who often associates it exercises
with malignant disease

Excess intake of salt, tobacco and coffee to be avoided Practice tips

A low-salt diet is the mainstay of treatment (<3 g per day)
Alleviate abnormal anxiety by using stress management, meditation or possibly long-term
sedation (fluid builds up with stress)
Referral for neurological assessment
Diuretic (e.g. hydrochlorothiazide 50 mg/amiloride 5 mg once daily)—check electrolytes
regularly
Surgery may be an option for intractable cases.
Vestibular migraine (migrainous vertigo)1
Migraine is a relatively common cause of vertigo (up to 25% association) and often unrecognised
because of its many guises. It should be strongly suspected if there is a past and/or family history
of migraine and also where there is a history of recurrent bouts of spontaneous vertigo or ataxia
that persist for hours or days in the absence of aural symptoms.15 Vertigo, which is usually not
violent, may take the place of the aura that precedes the headache or may be a migraine
A careful drug history often pinpoints the diagnosis.
Always consider cardiac arrhythmias as a cause of acute dizziness.
Consider phenytoin as a cause of dizziness.
If an intracerebral metastatic lesion is suspected, consider the possibility of
carcinoma of the lung as the primary source.
Three important office investigations to perform in the evaluation are blood
pressure measurement (lying, sitting and standing), hyperventilation and head
positional testing (or HINTS test).
Cervical vertigo is common and appropriate cervical mobilisation methods, with
care, have been shown to be beneficial in a systematic review.17
BPPV is also common and prescribing a set of exercises to desensitise the
labyrinth is recommended. Use either the Brandt–Daroff procedure or the
Cawthorne–Cooksey program.11
 Think of migraine particularly in a younger patient presenting with unexplained 11 Brandt T, Daroff DB. Physical therapy for BPPV. Arch Otolaryngol, 1980; 106: 484–5.
recurrent vertigo.
12 Kuo CH, Pang L, Chang R. Vertigo—part 1—assessment in general practice. Aust Fam
Physician, 2008; 37(5): 341–7.
Page 438
13 Froehling IA et al. The canalith repositioning procedure for BPPV: a randomised
Patient education resources controlled trial. Mayo Clin Proc, 2000; 75: 695–700.

14 Tonkin JP. Meniere’s disease. Current Therapeutics, 1995; 36: 39–43.

Hand-out sheets from Murtagh’s Patient Education 8th edition:
15 Pohl D. Vertigo. In: MIMS Disease Index (2nd edn). Sydney: IMS Publishing, 1996: 568–
Labyrinthitis 71.
Ménière syndrome 16 Matthews T. Peripheral vertigo in general practice. Cont Med Education, 2006; 33: 267–
Vertigo: benign positional vertigo 70.

Vertigo: exercises for benign positional vertigo 17 Yaseen K et al. The effectiveness of manual therapy in treating cervicogenic dizziness: a
systematic review. J Phys Ther Sci, 2018; 30(1): 96–102.

References
1 Vestibular neuritis [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed September 2017.

2 Dommaraju S, Perera E. An approach to vertigo in general practice. Aus Fam Physician,

2016; 45(4): 190–4.

3 Kuo C-H, Pang L, Chang R. Vertigo: assessment in general practice. Aust Fam Physician,
2008; 37: 341–7.

4 Lance JW. A Physiological Approach to Clinical Neurology. London: Butterworths, 1970:

162–79.

5 Paine M. Dealing with dizziness. Australian Prescriber, 2005; 28: 94–7.

6 Eviatar L, Eviatar A. Vertigo in children: differential diagnosis and treatment. Paediatrics,

1977; 59: 833–7.

7 Tunnessen WW Jr. Signs and Symptoms in Paediatrics. Philadelphia: Lippincott, 1988:

591–4.

8 Waterson J. Dizziness: how to treat. Australian Doctor, 7 March; 2003: 1–8.

9 Strupp M et al. Methylprednisolone, valacyclovir or the combination for vestibular

neuritis. N Engl J Med, 2004; 351: 354–61.

10 Hain TC, Yacovino D. Pharmacologic treatment of persons with dizziness. Neurol Clin,
2005; 23: 831–53.
 Oesophageal motility disorders (dysmotility)
Page 439
Peptic ulcer
Upper GIT malignancies (e.g. oesophagus, stomach, pancreas)
Hepatobiliary disease (e.g. hepatitis, biliary dyskinesia, cholelithiasis)

36 Dyspepsia (indigestion) Pancreatitis

Upper GIT inflammation
oesophagitis
gastritis
duodenitis
Half the patients who get you up in the middle of the night and think they are dying are suffering Irritable bowel syndrome
from wind!
Non-gastrointestinal disorders
FRANCIS YOUNG (1884–1954), A DVICE TO A YOUNGER DOCTOR Myocardial ischaemia
Drug reaction
Dyspepsia or indigestion is a difficult, sometimes vague, symptom to define or evaluate and
requires very careful questioning to clarify the exact nature of the complaint. Alcohol effect
Somatisation
Dyspepsia embraces the following:
Anxiety/stress
nausea
Depression
heartburn/regurgitation

upper abdominal discomfort

Glossary of terms
lower chest discomfort
Dyspepsia Pain or discomfort centred at the upper abdomen that is chronic or
acidity recurrent in nature.
epigastric fullness, bloating or unease Flatulence Excessive wind. It includes belching, abdominal bloating or passing
excessive flatus.
abdominal distension
Heartburn A central retrosternal or epigastric burning sensation that spreads
The discomfort can sometimes amount to pain. Diagnoses to consider in dyspepsia are
summarised in TABLE 36.1 . upwards to the throat.

Table 36.1 Diagnoses to consider in dyspepsia1 Flatulence

Gastrointestinal disorders Excessive belching
Gastro-oesophageal reflux, including hiatus hernia
Usually functional
Functional (non-ulcer) dyspepsia
 Organic disease uncommon Assess diet (e.g. high fibre, beans and legumes, cabbage, onions, grapes and raisins)

Due to air swallowing (aerophagy) Avoid drinking with eating, especially with leafy vegetables

Common in anxious people who gulp food and drink Cook vegetables thoroughly

Associated hypersalivation Trial a lactose-free diet

Management tips Consider simethicone preparations (e.g. De-Gas)

Make patient aware of excessive swallowing

Key facts and checkpoints
Avoid fizzy (carbonated) soft drinks
Dyspepsia or indigestion is a common complaint; 80% of the population will have
Avoid chewing gum experienced it at some time.

Don’t drink with meals Consider heartburn as ischaemic heart disease until proved otherwise.
Don’t mix proteins and starches The presence of oesophagitis is suggested by pain on swallowing hot or cold
liquids (odynophagia).
Eat slowly and chew food thoroughly before swallowing
Not all reflux is due to hiatus hernia.
Eat and chew with the mouth closed
Many of those with hiatus hernia do not experience heartburn.
If persistent: simethicone preparation (e.g. Mylanta II, Phazyme).
All dysphagia must be investigated to rule out malignancy.
Excessive flatus
Each year, 1–2 people per 1000 have a diagnosed peptic ulcer (PU).2
Flatus arises from two main sources:
The major feature of PU disease is epigastric pain.
swallowed air
The pain of duodenal ulcer (DU) classically occurs at night.
bacterial fermentation of undigested carbohydrate
At any time, 10–20% of chronic NSAIDs users have peptic ulceration.3
Exclude: Page 440
NSAIDs and Helicobacter pylori infection are the most important risk factors for
malabsorption upper GIT disease.

irritable bowel syndrome NSAIDs mainly cause gastric ulcers (GU, gastric antrum and prepyloric region),
with the duodenum affected to a lesser extent.
anxiety → aerophagy
Dyspeptic symptoms correlate poorly with NSAID-associated ulcer.
drugs, especially lipid-lowering agents

lactose intolerance
A diagnostic approach
Management
A summary of the diagnostic strategy model is presented in TABLE 36.2 .
 Is this patient trying to tell me something?
Table 36.2 Dyspepsia: diagnostic strategy model Anxiety and stress are common associations of which patients are often unaware.
Consider irritable bowel syndrome; somatisation.
Probability diagnosis
Irritable upper GIT (functional dyspepsia)
It is best to consider dyspepsia as:
Gastro-oesophageal reflux
Drugs ulcer-like—localised pain
Oesophageal motility disorder (e.g. gastroparesis)
dysmotility-like—diffuse discomfort, feeling full after meals (early satiety), nausea, bloating
Serious disorders not to be missed
acid-reflux-like—indigestion or heartburn with acid reflux or regurgitation
Neoplasia:
cancer: stomach, pancreas, oesophagus The ulcer-like category may be due to an ulcer, and if not is termed functional (non-ulcer)
Cardiovascular: dyspepsia.
ischaemic heart disease
congestive cardiac failure Pitfalls
Pancreatitis
Peptic ulcer (PU) disease Perhaps the most common serious mistake is to attribute the discomfort of myocardial ischaemia
to a disorder of the GIT. A sense of fullness or pressure in the epigastrium can certainly
Pitfalls (often missed) accompany ischaemia.
Myocardial ischaemia
General pitfalls
Food allergy (e.g. lactose intolerance)
Pregnancy (early) Reflux oesophagitis and PU can mimic ischaemic heart disease. Page 441
Hepatobiliary disease
Overlooking gastric cancer as a cause of dyspepsia.
Other gall bladder disease
Post vagotomy Failing to stress that weight reduction to ideal level will generally alleviate gastro-oesophageal
Achalasia reflux.
Duodenitis
Overlooking drugs as a cause (see TABLE 36.3 ).
Autoimmune gastritis
Rarities:
hyperparathyroidism Table 36.3 Drugs that may cause dyspepsia
mesenteric ischaemia
Zollinger–Ellison syndrome Alcohol
kidney failure Anticholinergics
scleroderma Aspirin
Seven masquerades checklist Bisphosphonates, esp. alendronate
Calcium-channel blockers
Depression
Corticosteroids
Diabetes (rarely)
Digitalis
Drugs
Lipid-lowering agents
 Narcotics Does it wake you up at night?
Nicotine
Does bending over (e.g. gardening) make it worse?
NSAIDs
Potassium supplements (slow release) Do you have periods of freedom from the problem?
Tetracycline; erythromycin
Are you under a lot of stress or have a lot of worry?
Theophylline
Tricyclic antidepressants Do you go flat out all day?

Do you rush your meals?

The clinical approach Do you chew your food properly?

What drugs or medicines do you take?

History
How much alcohol do you have? Do you smoke?
It is worthwhile spending some time clarifying the exact nature of the presenting complaint: what
the patient means by ‘indigestion’ or ‘heartburn’.1 The relationship of the symptom to eating is Have you noticed anything else when you have the problem?
very important, and whether it occurs after each meal or after specific meals.
Do you get constipated or have diarrhoea?
In particular, care should be taken to consider and perhaps exclude ischaemic heart disease.
Have you lost weight recently?
Key questions Do you feel the discomfort between your shoulder blades, or in your shoulders or throat?
How would you describe the discomfort? Do you experience shortness of breath, syncope or dizziness?
Can you show me exactly where it is and where it radiates?
Symptoms analysis
What makes your discomfort worse?
Site and radiation
What relieves your discomfort?
The site and radiation of pain or discomfort can provide a lead to the diagnosis. Refer to
What effect do food, milk and antacids have? FIGURE 30.9 in CHAPTER 30 . If it is felt in the interscapular area, consider oesophageal
spasm, gall bladder disease or a DU. Retrosternal discomfort indicates oesophageal disorders or
What effect do coffee, onions or garlic have? angina, while epigastric discomfort suggests disorders of the biliary system, stomach and
duodenum.
What effect does a big meal have?

What about drinking alcohol? Wine? Character of the pain

What effect does exercise have? There tends to be considerable overlap in the character of the pain from the various disorders but
some general characteristics apply:
Do fried or fatty foods make it worse?
burning pain → gastro-oesophageal reflux (GORD)
Do hot spicy foods affect it?
constricting pain → ischaemic heart disease or oesophageal spasm
Does the problem come on at night soon after you go to bed?
deep gnawing pain → PU
 heavy ache or ‘killing’ pain → psychogenic pain Do not overinvestigate. Investigations tend to be unrewarding in most instances of dyspepsia and
could be postponed if the history is suggestive of a functional cause and the symptoms are not
Aggravating and relieving factors severe.1 A trial of treatment such as changing adverse lifestyle factors, dietary modification and
antacids could be the initial approach. Age is important in determining the extent of
Examples of these factors include: investigations, which are more relevant in those over 40 years.

eating food may aggravate a GU but relieve a DU The investigation of choice is endoscopy, which is superior to barium studies in investigation of
the upper GIT. Gastroscopy is indicated for the alarm symptoms (see Red flags box ).
eating fried or fatty foods will aggravate biliary disease, functional dyspepsia and oesophageal
disorders Helicobacter pylori tests4
bending will aggravate GORD Helicobacter pylori has been proved to cause ulcers. Most DUs and about two-thirds of GUs
have been attributed to H. pylori infection.
alcohol may aggravate GORD, oesophagitis, gastritis, PU, pancreatitis

Page 442

Associated symptoms
Red flags

Relevant examples: Abnormal symptoms of reflux/dyspepsia

difficulty in swallowing → oesophageal disorders Change of symptoms

lump or constriction in throat → psychogenic Dysphagia

acid regurgitation → GORD, oesophagitis Anorexia

anorexia, weight loss → stomach cancer Unexplained weight loss

water brash → GORD, hiatus hernia, PU GIT bleeding (melaena, haematemesis)

symptoms of anaemia → chronic oesophagitis or gastritis, PU, cancer (stomach, colon) Pain radiating to back

flatulence, belching, abnormal bowel habits → irritable bowel syndrome Pain waking at night

diarrhoea 30 minutes after meal → mesenteric ischaemia Abnormal signs on examination

Other tests: fasting serum gastrin (?hypersecretion)

Examination
The physical examination does not often provide the key to the diagnosis but it is important to
perform very careful palpation and inspection. Look for evidence of clinical anaemia and Non-invasive tests:
jaundice. Diffuse mild abdominal tenderness and a pulsatile abdominal aorta (especially in thin
serological—IgG antibodies (sensitivity 85–90%, specificity 90–99%); excellent for diagnosis,
people) are common findings but do not necessarily discriminate between organic and functional
not for follow-up; affected by PPIs—may be negative
problems. Specific epigastric tenderness suggests peptic ulceration while tenderness over the gall
bladder area (Murphy sign) indicates gall bladder disease. An epigastric mass indicates stomach urea breath test (high sensitivity 97% and specificity 96%), good for follow-up
cancer.
stool antigen test (sensitivity 96%, specificity 95%)
Investigations
Invasive tests:

gastric mucosal biopsy during endoscopy can detect H. pylori through histology (gold
standard) or rapid urease testing or H. pylori culture
Dyspepsia in the elderly
An organic disorder is more likely in the older patient, in whom it is important to consider
stomach cancer. Symptoms such as anorexia, vomiting and weight loss point to such a problem.
Other conditions causing dyspepsia that are more prevalent in this age group are:
constipation
mesenteric artery ischaemia
congestive cardiac failure
Dyspepsia in children
Dyspepsia is an uncommon problem in children but can be caused by drugs, cow’s milk protein
allergy, oesophageal disorders and gastro-oesophageal reflux in particular.5 Reflux can be
considered to be physiological or pathological.
Gastro-oesophageal reflux
Regurgitation of feeds because of gastro-oesophageal reflux is a common physiological event in
newborn infants. A mild degree of reflux is normal in babies, especially after they burp; this
condition is called posseting. Page 443
Symptoms
Milk will flow freely from the mouth soon after feeding, even after the baby has been put down
for a sleep. Sometimes the flow will be forceful and may even be out of the nose.
Despite this vomiting or regurgitation, the babies are usually comfortable and thrive. Some
infants will cry, presumably because of heartburn.5
In a small number the reflux may be severe enough (pathological) to cause serious problems
such as oesophagitis with haematemesis or anaemia, stricture formation, failure to thrive, apnoea
and aspiration.
Prognosis
Reflux gradually improves with time and usually ceases soon after solids are introduced into the
diet. Most cases clear up completely by the age of 9 or 10 months, when the baby is sitting. At
12 months, only 5% have symptoms. Severe cases tend to persist until 18 months of age.
Investigations
These are not necessary in most cases but in those with persistent problems or complications
referral to a paediatrician is recommended. The specialist investigations include barium meal
with cine scanning, oesophageal pH monitoring or endoscopy and biopsy.
Management
Appropriate reassurance with parental education is important. It should be pointed out that
changes in feeding practice and positioning will control most reflux.
The infant should be placed on the left side for sleeping with the head of the cot elevated about
20–30 degrees. The old method of placing the child in a bucket is no longer considered
acceptable!
Smaller, more frequent feeds and thickening agents such as corn flour are appropriate.
Thickening of feeds
In infants under 6 months of age with confirmed, significant reflux, giving thickened formula
feeds moderately decreases occurrences of regurgitation and parent-reported symptoms, and
improves weight gain compared with non-thickened feeds.6
Bottle-fed babies (powdered milk formula):
Carobel: Add slightly less than 1 full scoop per bottle.
Gaviscon: Mix slightly less than ½ teaspoon of Infant Gaviscon Powder with 120 mL of
formula in the bottle.
Cornflour (maize based): Mix 1 teaspoon with each 120 mL of formula.
Prethickened formulas, e.g. Karicare and S26 AR: Easier to use but more expensive.
Breastfed babies:
Carobel: Add slightly less than 1 full scoop to 20 mL cool boiled water or 20 mL expressed
breast milk and give just before the feed.
Gaviscon: Mix slightly less than ½ teaspoon of Infant Gaviscon Powder with 20 mL cool
boiled water or expressed breast milk and give just after the feed.
For persistent or complicated reflux, including painful oesophagitis, specialist-monitored
treatment will include the use of antacids and H2-receptor blocking agents (e.g. ranitidine).7
 Unresponsive H. pylori treatment
Dyspepsia in adults
Barrett oesophagus screening in high-risk patients
Gastro-oesophageal reflux disease (GORD)8,9 in adults
Page 444
Clinical features
Complications
Nausea
Oesophagitis ± oesophageal ulcer
Bloating and belching
Iron-deficiency anaemia
Heartburn
Oesophageal stricture
Acid regurgitation, especially lying down at night
Respiratory: chronic cough, asthma, hoarseness
Water brash (mouth fills with saliva)
Barrett oesophagus (from prolonged reflux)
Nocturnal cough with possible asthma-like symptoms
Investigations8
Diagnosis usually made on history
Endoscopy (see Red flag pointers)—perform prior to empirical therapy. Limited role—about
Investigation usually not needed (reserve for alarm features as described in the red flag box one-third negative
and non-responsive treatment)
Barium swallow and meal

Red flag pointers for upper GIT endoscopy 24-hour ambulatory oesophageal pH monitoring

Anaemia (new onset) Management of GORD8,9,10,11

Dysphagia Stage 1

Odynophagia (painful swallowing) Patient education/appropriate reassurance

Haematemesis or melaena Consider acid suppression or neutralisation

Unexplained weight loss > 10% Attend to lifestyle:

Vomiting reduce weight if overweight (this alone may abolish symptoms)

Older age >50 years reduce or cease smoking

Chronic NSAID use reduce or cease alcohol (especially with dinner)

Severe frequent symptoms avoid fatty foods (e.g. pastries, french fries)

Family history of upper GIT or colorectal cancer reduce or cease coffee, tea and chocolate

Short history of symptoms avoid coffee and alcohol late at night

 avoid gaseous drinks carbonate
hydroxide
leave at least 3 hours between the evening meal and retiring
trisilicate
increase fibre intake (e.g. high-fibre cereals, fruit and vegetables) Combination antacids
small regular meals and snacks Antacid + alginic acid
Antacid + oxethazaine
eat slowly and chew food well
Antacid + simethicone
sleep on the left side

main meal at midday; light evening meal

Table 36.5 Side effects of common antacids
avoid spicy foods and tomato products

Drugs to avoid: anticholinergics, theophylline, nitrates, calcium-channel blockers, Aluminium hydroxide Constipation
doxycycline. Pill-induced (i.e. before absorption) oesophagitis occurs, especially with
tetracyclines, slow-release potassium, iron sulphate, corticosteroids, NSAIDs—avoid taking Magnesium trisilicate Diarrhoea
dry; use ample fluids Sodium bicarbonate Alkalosis

Elevation of head of bed or wedge pillow: if GORD occurs in bed, sleep with head of bed Milk-alkali syndrome
elevated 10–20 cm on wooden blocks or use a wedge pillow (preferable) Aggravation of hypertension

Antacids (see TABLES 36.4 and 36.5 ): best is liquid alginate/antacid mixture, e.g. Calcium carbonate Alkalosis
Gaviscon/Mylanta plus 20 mL on demand or 1–2 hours after meals and at bedtime Constipation
Milk-alkali syndrome
Table 36.4 Antacids in common use Hypercalcaemia

Antacids
Antacids are appropriate for rapid relief of mild intermittent or occasional breakthrough
Water soluble: Calcium carbonate symptoms but are ineffective for long-term management.
Sodium:
bicarbonate Stage 28
citrotartrate
If no relief after several weeks, the following approaches are recommended by the
Note: Excess is prone to cause alkalosis—apathy, mental Gastroenterological Society of Australia (GESA).8
changes, stupor, kidney dysfunction, tetany
Reduce acid secretion. Select from:
Water insoluble: Aluminium:
hydroxide Proton-pump inhibitor (PPI) for 4 weeks (preferred agent) 30–60 minutes before food
glycinate
lansoprazole 30 mg mane Page 445
phosphate
Magnesium: or
alginate omeprazole 20 mg mane
 or Hiatus hernia
pantoprazole 40 mg mane
See FIGURE 36.2 .
or Common, especially in obese and >50 years.
esomeprazole 20 mg mane Most asymptomatic but GORD common.
Diagnosis by barium swallow.
or

rabeprazole 20 mg mane

H2-receptor antagonists (oral use for 8 weeks)

famotidine 20 mg bd

or

nizatidine 150 mg bd or 300 mg nocte

FIGURE 36.2 Hiatus hernia: rolling and sliding
or
Source: Longmore M, Wilkinson IB et al. Oxford Handbook of Clinical Medicine (9th edn). Oxford, 2014: 245. Reproduced with
permission of the Licensor through PLSclear.
ranitidine 150 mg bd pc or 300 mg nocte

Antacids are useful for daytime symptoms Types

Although the more traditional step-up approach of 1. Antacids → 2. H2-receptor antagonists → Sliding: GO junction slides into chest. Acid reflux common.
3. PPI can be used, there has been a change to favour a high-level (more potent) initial therapy
Rolling (paraoesophageal): bulge of stomach herniates into chest. GORD uncommon but
with PPIs at standard dose (a step-down approach; see FIG. 36.1 ). This is based on the grounds
prone to strangulation.
of outcomes, speed of response and total cost. May need to eradicate H. pylori if present,
although there is no consistent evidence of an association with GORD.10
Treatment
Weight loss, esp. for GORD (treat reflux symptoms). Consider PPIs.

Surgery for intractable symptoms and for repair of rolling hernia.

Functional (non-ulcer) dyspepsia9,12

This term applies to the 60% of patients presenting with dyspepsia in which there is discomfort
on eating in the absence of demonstrable organic disease. This can be considered in two
categories (although there is overlap):

FIGURE 36.1 The stepwise approach to the management of dyspeptic ulcer-like dyspepsia—localised pain
symptoms7 or
Surgery is usually for young people with severe reflux. The gold standard is a short, loose 360- dysmotility-like dyspepsia—diffuse discomfort
degree laparoscopic fundoplication.
Ulcer-like dyspepsia Lower oesophagus lined with gastric mucosa (at least 3 cm) of metaplastic columnar
epithelium
Treat as for GORD. A practical approach is to commence with a 4-week trial of a PPI or an H2-
Prone to ulceration
receptor antagonist and cease if symptoms resolve.9
Needs careful management, which includes PPIs for symptoms of oesophagitis + reflux
Dysmotility-like dyspepsia
Consider 2-yearly endoscopies with biopsies
Clinical features Diagnosed by endoscopy and biopsy
Discomfort with early sense of fullness on eating
Peptic ulcer disease12,13
Nausea
Features (general)
Overweight
Common: 10% incidence over a lifetime, but decreasing
Emotional stress
Peptic ulcers accounted for 1 in every 500 deaths in Australia14 in 2018
Poor diet (e.g. fatty foods)
DU:GU = 4:1
Similar lifestyle guidelines to GORD
DUs common in men 3:1
Management
Risk factors:
Treat as for GORD (stage 1).
male sex
Include antacids.
family history
If not responsive:
smoking (cause and delayed healing)
Step 1: H2-receptor antagonists
stress
Step 2: prokinetic agents
more common in blood group O
domperidone 10 mg tds
NSAIDs 2–4 times increase in GU and ulcer complications
or
H. pylori
metoclopramide 10 mg tds
Unproven risk factors:
Consider possibility of Barrett oesophagus or gastroparesis (see CHAPTER 49 ).
corticosteroids
Page 446
alcohol (except for gastric erosion)
Barrett oesophagus
diet (does reduce recurrence of PU)
Usually a metaplastic response to prolonged reflux
Types of ulcers:
A premalignant condition (adenocarcinoma)
 lower oesophageal Bleeding peptic ulcer
gastric
This can be treated with endoscopic haemostasis with electrocautery heater probe or injection of
adrenaline or both. Also IV omeprazole 80 mg bolus, then 8 mg/hr IV infusion for 3 days.
stomal (postgastric surgery)
Surgery is an option. IV esomeprazole, omeprazole or pantoprazole can also be used.
duodenal
Management of peptic ulcer disease
Note: If NSAIDs and H. pylori are not implicated, it is referred to as idiopathic (affects a small
population group). Aims of treatment:

Clinical features relieve symptoms

Episodic burning epigastric pain related to meals (1–2 hours after) accelerate ulcer healing

Relieved by food or antacids (generally) prevent complications

Dyspepsia common minimise risk of relapse

May be ‘silent’ in elderly on NSAIDs The treatment of a GU is similar to that for a DU except that GUs take about 2 weeks longer to
heal and the increased risk of malignancy has to be considered.
Physical examination often unhelpful
Stage 19
Investigations
General measures: (lifestyle and symptom relief)
Endoscopy (investigation of choice):15 92% predictive value
same principles as for GORD
Barium studies: 54% predictive value
stop smoking
Serum gastrin (consider if multiple ulcers)
avoid irritant drugs: NSAIDs, aspirin
H. pylori test: serology or urea breath test; diagnosis usually based on urease test performed at
endoscopy normal diet but avoid foods that upset

antacids
Complications
If H. pylori positive—eradicate with combined therapy. Confirm eradication with a urea breath
Perforation test (DU) or repeat gastroscopy (GU) and repeat if still present.10
Bleeding → haematemesis and melaena If H. pylori negative—treat with full-dose PPI.
Obstruction—pyloric stenosis
Proton-pump inhibitors
Anaemia (blood loss)
Proton-pump inhibitors (PPIs) provide more potent acid suppression and heal GUs and DUs
Cancer (in GU) more rapidly than H2-receptor antagonists.

Oesophageal stenosis 4–8-week oral course

PPIs are frequently used for longer than needed, with many people on long-term high Page 447
doses which are unnecessary and potentially harmful (risk of C. difficile, osteoporotic PPI + amoxicillin + levofloxacin (for salvage therapy)
fractures, pneumonia, nutritional deficiencies). Consider deprescribing for those without Barrett
oesophagus, high-grade oesophagitis or GI bleeding. Long-term users may experience rebound or
symptoms upon cessation; reduce gradually and offer prn occasional use.16
other combinations: quadruple therapy, e.g. bismuth + PPI + tetracycline + metronidazole (for
Use with caution in: failed triple combination)

the elderly Note: Resistance to metronidazole is common (>50%) and to clarithromycin is increasing (about
5% plus), but uncommon with tetracycline and amoxicillin.6
those on drugs, especially warfarin, anticonvulsants, beta blockers
Antacids are good for daytime relief.
liver disease
Maintenance anti-secretory therapy is usually unnecessary for H. pylori ulcers after successful
eradication.9
Therapy to eradicate Helicobacter pylori17,18
For children with confirmed H. pylori:
This organism has a proven link with PU disease (both DU and benign non-drug induced GU),
gastric cancer and MALToma (a gastric lymphoma) because of mucosal infection. This PPI + amoxicillin + clarithromycin
hypothesis is supported by a very low relapse of DU in subjects eradicated of H. pylori. Most
infected people are asymptomatic but infection leads to a lifetime risk of peptic ulcer disease in
Surgical treatment
15–20% and of gastric cancer in up to 2%.12 Twenty per cent of people have a variety of
symptoms including those from gastritis and duodenitis. Treatment is based on combination Indications (now uncommon) include:
triple or quadruple therapy, which can achieve a successful eradication rate of 85–90%.
failed medical treatment after 1 year
Drug treatment regimens (examples)9
complications:
First-line therapy:
uncontrollable bleeding
PPI (e.g. omeprazole or esomeprazole 20 mg)
perforation
plus
pyloric stenosis
clarithromycin 500 mg
suspicion of malignancy in GU
plus

amoxicillin 1 g
NSAIDs and peptic ulcers9,19
1. Ulcer identified in NSAID user:
All orally twice daily for 7 days; this is the preferred regimen (available as a combination
pack)
stop NSAID (if possible)
Note: A 10–14-day course improves eradication rate by approx. 5%.1 check smoking and alcohol use
or try alternative anti-inflammatory analgesic:
PPI + clarithromycin + metronidazole 400 mg (twice daily for 7 days)—if hypersensitive to paracetamol
penicillin
enteric-coated, slow-release aspirin
or
 corticosteroids intra-articular or oral Consider if upper GIT symptoms in patients over 40 years, especially weight loss

PPI for 4 weeks (gives best results) Recent-onset dyspepsia in middle age

Note: Healing time is doubled if NSAID continued.3 About 90% heal within 12 weeks. Check Dyspepsia unresponsive to treatment
healing by endoscopy at 12 weeks. Do H. pylori test.
Vague fullness or epigastric distension
2. Prevention of ulcers in NSAID user:19
Anorexia, nausea ± vomiting
Primary prophylaxis is usually reserved for those at significantly increased risk, e.g. older
persons (>75 years) and past history PU. Dysphagia—a late sign

Use one of the following PPIs:9 Onset of anaemia

esomeprazole 20 mg bd for 7 days Changing dyspepsia in GU

or Changing symptoms in pernicious anaemia

omeprazole 20 mg daily H. pylori is implicated as a cause. Its treatment reduces the risk1 and is recommended in high-
risk groups
or
Also implicated in gastric mucosa-associated lymphoid tissue (MALT) lymphoma
pantoprazole 40 mg daily
Risk factors: ↑ age, blood group A, smoking, sugar, atrophic gastritis, diet—high in salted and
Increased dietary fibre assists DU healing and prevention. smoked foods

Note: Do H. pylori test and, if present, it should be eradicated with combination therapy after the Limited physical findings
ulcer has healed, especially in people who continue to take NSAIDs.1
Palpable abdominal mass (20%)
Autoimmune gastritis9 Signs (see FIG. 36.3 ) in advanced cases
This is an inflammatory condition with antibodies to parietal cells and intrinsic factor. It is
asymptomatic and may lead to pernicious anaemia. Diagnosis is confirmed by histology or
endoscopy. H. pylori is absent.

Treat with iron and vitamin B12 if they are low.

Page 448

Stomach cancer
This is the fourth most common cancer worldwide.

Clinical features
Male to female ratio = 3:1

Usually asymptomatic early

 Investigations
Endoscopy and biopsy is optimal test

Barium meal—false negatives

Treatment
Surgical excision: may be curative if diagnosed early but overall survival is poor (22% at 5
years)

When to refer
Infants with persistent gastro-oesophageal reflux not responding to simple measures

Failure to respond to stage 1 therapy for heartburn, when endoscopy is required

Patients with persistent or recurrent ulcers

Any patient with a PU complication, such as haemorrhage, obstruction or perforation

Practice tips
Scleroderma is a rare but important cause of oesophagitis.

Advise patients never to ‘dry swallow’ medications.

Persistent dysphagia always warrants investigation, not observation.

Beware of attributing anaemia to oesophagitis.

Epigastric pain aggravated by any food, relieved by antacids = chronic GU.

Epigastric pain before meals, relieved by food = chronic DU.

Keep in mind the malignant potential of a GU.

FIGURE 36.3 Late signs of stomach cancer
A change in the nature of symptoms with a GU suggests the possibility of
malignant change.
DxT malaise + anorexia + dyspepsia + weight loss → stomach cancer
Avoid the long-term use of water-soluble antacids.

Investigate the alarm symptoms—dysphagia, bleeding, anaemia, weight loss,

DxT triple loss of appetite + weight + colour → stomach cancer waking at night, pain radiating to the back.
 study. Am J Gastoenterol, 2014; 109(2): 171–7.
Page 449

Patient education resources 11 Fock KM et al. Asia-Pacific consensus on the management of gastroesophageal reflux
disease: update. J Gastroenterol Hepatol, 2008; 23: 8–22.
Hand-out sheets from Murtagh’s Patient Education 8th edition: 12 Katelaris P. Dyspepsia: update. Australian Doctor, 2005; 7 October: 23–5.
Barrett oesophagus 13 Madge S, Yeomans N. Stomach and duodenal ulcers. Current Therapeutics, 2001;
September: 69–72.
Heartburn
14 Australia: peptic ulcer disease. World Health Rankings. Available from:
Hiatus hernia https://www.worldlifeexpectancy.com/australia-peptic-ulcer-disease, accessed February
2021.
Peptic ulcer
15 Korman M, Sievert W. Peptic ulcers. In: MIMS Disease Index (2nd edn). Sydney: IMS
Reflux disease Publishing, 1996: 400–2.
Reflux in infants
16 RACGP Choosing Wisely panel. The Royal Australian College of General Practitioners
Recommendations: 1. Don’t use proton pump inhibitors (PPIs) long term in patients with
References uncomplicated disease without regular attempts at reducing dose or ceasing. April 2005.
Available from: https://www.choosingwisely.org.au/recommendations/racgp, accessed
1 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines March 2021.
Handbook Pty Ltd, 2018: 502–19.
17 Ford A et al. Eradication therapy for peptic ulcer disease in Helicobacter positive patients
2 Sung JJY et al. Systematic review: the global incidence and prevalence of peptic ulcer (Cochrane Review). Cochrane Database. Syst Rev, 2004; Issue 4: Art No. CD003840.
disease. Alimentary Pharmacology & Therapeutics, 2009; 29: 938–46.
18 Sugano K et al. Kyoto global consensus report on Helicobacter pylori gastritis. Gut, 2015;
3 Pritchard P. The management of upper gastrointestinal problems in patients taking 64(9): 1353–67.
NSAIDs. Aust Fam Physician, 1991; 20: 1739–41.
19 Chan FK, To KF, Wu JC. Eradication of Helicobacter pylori and risk of peptic ulcers in
4 McGarity B, Morgia M. Peptic ulcer disease: an update on diagnosis and treatment. patients starting long term treatment with NSAIDs: a randomised trial. Lancet, 2002;
Medicine Today, 2001; December: 33–7. 359(9300): 9–13.

5 Sewell J. Gastro-oesophageal reflux. Australian Paediatric Review, 1991; 3: 2.

6 Finck A, Morris L. Thickened feedings for infants with gastroesophageal reflux. Am Fam
Physician, 1 Oct 2019;100(7): 437.

7 Gwee A, Rimer R, Marks M. Paediatric Handbook (9th edn). Oxford: Wiley-Blackwell,

2015: 96–7.

8 Gastro-oesophageal Reflux Disease in Adults: Guidelines (5th edn). Sydney:

Gastroenterological Society of Australia, 2011.

9 Gastric disorders [published 2016]. In: Therapeutic Guidelines [digital]. Melbourne:

Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed October 2019.

10 Ness-Jensen E et al. Weight loss and reduction in gastroesophageal reflux. The HUNT
 There are only a few common causes of dysphagia and these are usually readily diagnosed on the
Page 450 history and two or three investigations. A careful history is very important, including a drug
history and psychosocial factors.

Diagnostic guidelines
37 Dysphagia Any disease or abnormality affecting the tongue, pharynx or oesophagus can cause dysphagia.

Patients experience a sensation of obstruction at a definite level with swallowing food or

water; hence, it is convenient to subdivide dysphagia into oropharyngeal and oesophageal.

Pain from the oropharynx is localised to the neck.

We swallow approximately 1200 times daily, largely subconsciously. While we take the
fundamental function for granted, disordered swallowing can be a devastating condition, with
substantial morbidity for those affected.
IAN COOK 1996
Pain from the oesophagus is usually felt over the T2–6 area of the chest.
Oropharyngeal causes: difficulty initiating swallowing; food sticks at the suprasternal notch
level; regurgitation; aspiration.

Dysphagia is difficulty in swallowing. It is a common problem affecting up to 22% of patients at Oesophageal causes: food sticks to mid to lower sternal level; pain on swallowing solid foods,
some point in the general practice setting.1 It is usually associated with a sensation of hold-up of especially meat, potatoes and bread, and then eventually liquids.
the swallowed bolus and is sometimes accompanied by pain.
A pharyngeal pouch usually causes regurgitation of undigested food and gurgling may be
Its origin is considered as either oropharyngeal or oesophageal. Oropharyngeal dysphagia is audible over the side of the neck.
usually related to neuromuscular dysfunction and is commonly caused by stroke. Oesophageal
dysphagia is usually due to motor disorders, such as achalasia or diffuse oesophageal spasm, and Neurological disorders typically result in difficulty swallowing or coughing or choking due to
to peptic oesophageal strictures often secondary to reflux. In this type of dysphagia there is a food spillover, especially with liquids.
sensation of a hold-up, which may be experienced in either the cervical or retrosternal region.1
Dysphagia for solids only indicates a structural lesion, such as a stricture or tumour.
Causes are usually classified as functional, mechanical and neurological (see TABLE 37.1 ).
Dysphagia for liquids and solids is typical of an oesophageal motility disorder, namely
Table 37.1 achalasia.2
Causes of dysphagia
GORD tends to exclude achalasia.
Functional Examples: muscle tension, ‘express swallowing’
Scleroderma may lead to a peptic stricture.
Neurological Examples: stroke, myasthenia, MND
Gastroenterologists suggest the ‘big three’ common causes referred for specialist investigation
Mechanical
are benign peptic stricture, cancer and achalasia.3
luminal Example: foreign body
mural Example: stricture, tumour Intermittent dysphagia for both liquids and solids is characteristic of a motility disorder such
extramural Example: extrinsic compression (i.e. goitre) as oesophageal achalasia.

Malignant oesophageal obstruction is usually evident when there is a short history of rapidly
progressive dysphagia and significant weight loss.4 Page 451
Dysphagia must not be confused with globus sensation, which is the sensation of the constant
‘lump in the throat’ although there is no actual difficulty swallowing food. If dysphagia is
progressive or prolonged then urgent attention is necessary.
Red flag pointers for dysphagia
 Age >50 years Parkinson disease
Recent or sudden onset Pitfalls (often missed)
Foreign body
Unexplained weight loss
Drugs (e.g. phenothiazines, bisphosphonates)
Painful swallowing Subacute thyroiditis
Extrinsic lesions (e.g. lymph nodes, goitre)
Progressive dysphagia
Upper oesophageal web (e.g. Plummer–Vinson syndrome)
Dysphagia for solids Diffuse oesophageal spasm
Eosinophilic oesophagitis
Hiccoughs
Radiotherapy
Hoarseness Achalasia
Upper oesophageal spasm (mimics angina)
Neurological symptoms/signs
Rarities (some):
Sjögren syndrome
A summary of the diagnostic strategy model is presented in TABLE 37.2 . aortic aneurysm
aberrant right subclavian artery
lead poisoning
Table 37.2 Dysphagia: diagnostic strategy model (excluding oropharyngeal cervical osteoarthritis (large osteophytes)
infections and strokes)
other neurological causes
other mechanical causes
Probability diagnosis
Seven masquerades checklist
Functional (e.g. ‘express’ swallowing, psychogenic)
Tablet-induced irritation Depression
Pharyngotonsillitis Drugs
GORD/reflux oesophagitis Thyroid disorder

Serious disorders not to be missed Is the patient trying to tell me something?

Neoplasia: Yes. Could be functional. ?Globus sensation.

cancer of the pharynx, oesophagus, stomach
extrinsic tumour
AIDS (opportunistic oesophageal infection in immunocompromised, also Examination
candidiasis, herpes and viral oesophagitis)
Stricture, usually benign peptic stricture It is worthwhile focusing on the following features:
Oesophageal food bolus obstruction general examination including hands and skin ?scleroderma
Scleroderma
Neurological causes: assess nutritional status including BMI
pseudobulbar palsy
mouth, pharynx, larynx (look for paralysis) ?dentition
multiple sclerosis/myasthenia gravis
motor neurone disease (amyotrophic sclerosis) neck, especially for lymph nodes and thyroid
 neurological, especially cranial nerve function and muscle weakness disorders or evidence of Diagnosis confirmed by endoscopy and barium swallow
stroke
Treatment
special oesophageal obstruction test:
Dilate the stricture
hand the patient a glass of water and place a stethoscope over the left upper quadrant of
abdomen Treat reflux vigorously
measure time between swallowing and murmur produced by bolus passing the cardia
(normal: 7–10 seconds) Oesophageal cancer
assess aspiration risk, e.g. through having a sip of water1 Dysphagia at beginning of meal

Progressive dysphagia for solid food steadily progressive over weeks

Investigations
Can remain silent and tends to be invasive when diagnosed
Full blood examination: ?anaemia
Hiccoughs may be an early sign
Neurological cause: oesophageal motility study (manometry)
Hoarseness and cough (upper third)
Mechanical:
Discomfort or pain—throat, retrosternal, interscapular
extrinsic compression (e.g. barium swallow, CT scan, chest X-ray)
Weight loss can be striking
intrinsic (e.g. endoscopy ± barium swallow)
Associations: GORD, tobacco, Barrett oesophagus
PET scan: good for identifying oesophageal cancer and gastro-oesophageal function
Diagnosis confirmed by barium swallow and endoscopy
The primary investigation in suspected pharyngeal dysphagia is a video barium swallow,5 while
endoscopy is generally the first investigation in cases of suspected oesophageal dysphagia. Both SCC upper third (commonest) and adenocarcinoma, distal third
Barium swallow should precede endoscopy in the latter when there is a suspected oesophageal
‘ring’ and suspected oesophageal dysmotility. If endoscopy and radiology are negative, consider Adenocarcinoma associated with Barrett mucosa
oesophageal motility studies to look specifically for achalasia or other less common motility
Plummer–Vinson syndrome
disorders.
Treatment is usually palliative surgery
Page 452

Specific conditions DxT fatigue + progressive dysphagia + weight loss → oesophageal

cancer

Benign peptic stricture

Fibrous stricture of lower third oesophagus (can be higher)
Barrett oesophagus
See CHAPTER 36 .
Follows years of reflux oesophagitis

Usually older people Achalasia6

Dysphagia with solid food A disorder of oesophageal motility
 Widely dilated oesophagus Clinical features
Empties poorly through a smoothly tapered lower end Sensation of being ‘choked up’ or ‘something stuck’ or lump—a very real sensation
Gradual onset of dysphagia for both liquids and solids Not affected by swallowing
Fluctuating symptoms—dysphagia, regurgitation Eating and drinking may provide relief
Chest discomfort Normal investigations
Diagnosis confirmed by barium swallow or manometry Page 453

Manometry is the only way to diagnose with certainty1

Approach to patient
Careful history and examination
Treatment
Exclude organic cause (refer TABLE 37.2 )
Conservative in the elderly (e.g. nifedipine/or endoscopic botulinum toxin injection into the
sphincter) May require investigations if doubtful diagnosis
Pneumatic dilatation of lower oesophageal sphincter or surgical myotomy Management
Note: Prokinetic drugs have no place in treatment. Usually settles with education, reassuring support and time (up to several months)

Drug-induced oesophageal injury3 Avoid swallowing very hot drinks

Tetracycline, especially doxycycline, can cause painful ulceration in all age groups. No drug of proven value

Delayed passage of some drugs (due to pre-existing disorders) can cause local ulceration, even
perforation (especially in the elderly) (e.g. iron tablets, slow-release potassium, aspirin,
NSAIDs, bisphosphonates, zidovudine, antibiotics).
The elderly are prone to the problem if they ingest drugs upon retiring to bed with insufficient
liquid washdown.
Management
Treat any underlying psychological disorder
Odynophagia6
Pain on swallowing is basically caused by irritation of an inflamed or ulcerated (in particular)
mucosa by the swallowed food bolus, usually meat, which may impact. Food bolus impaction
may be very serious. If drinking water or, better still, 25–50 mL of a carbonated drink is
ineffective, urgent upper GIT endoscopy may be required.

Stop drugs or swallow them upright with a glass of water Important causes include:

Take antacids GORD (the commonest cause) with associated oesophagitis

Globus sensation (cricopharyngeal spasm) oesophageal spasm, especially distal oesophagus

Also referred to as ‘globus hystericus’ or ‘lump in the throat’, it is the subjective sensation of a oesophageal candidiasis, especially in the immunosuppressed
lump in the throat. It appears to be associated with psychological stress (e.g. unresolved hurt,
herpes simplex oesophagitis, in the immunosuppressed
grief, non-achievement). Suppression of sadness is most often implicated.7 No specific aetiology
or physiological mechanism has been established. The symptom can be associated with GORD, cytomegalovirus oesophagitis, in the immunosuppressed
from frequent swallowing or an emotionally based dry throat.
 pill-induced oesophagitis/ulceration Mechanical dysphagia represents cancer until proved otherwise.

oesophageal cancer Progressive dysphagia and weight loss in an elderly patient is oesophageal
cancer until proved otherwise.
achalasia
Oesophageal cancer usually causes pain, wasting and regurgitation.
Infective oesophagitis Globus sensation or hystericus, an anxiety disorder, should not be confused with
dysphagia. It is the subjective sensation of a lump or mass in the throat.
Common infective causes—candida species, herpes simplex virus (HSV), cytomegalovirus.
Particularly seen in young women.
These are more prone to occur in the immunocompromised.
Cancer-induced achalasia occurs with tumours at the gastro-oesophageal junction
Present with odynophagia and/or dysphagia. usually due to adenocarcinoma of the stomach.

Diagnosis is by upper GI endoscopy and biopsy. Severe oesophageal reflux predisposes to adenocarcinoma.

Oesophageal strictures can be benign, usually secondary to chronic reflux

Oesophageal candidiasis oesophagitis, or due to malignancy.
Treat with nystatin 100 000 units/mL suspension, 1 mL (o) 6 hrly for 10–14 weeks. Be careful of a change of symptoms in the presence of longstanding reflux.
Consider stricture or cancer.
If poor response, fluconazole (o), or IV if not tolerated orally.
A prominent hard lymph node in the left supraclavicular fossa (Troisier sign) is
If no response to fluconazole, itraconazole (o). Refer to therapeutic guidelines.
suggestive of cancer of the stomach.
Herpes simplex Dysphagia can be caused by a tight fundoplication and can be diagnosed by
manometry or barium swallow.1
Treat with aciclovir IV until oral therapy possible, then famciclovir or valaciclovir.

Eosinophilic oesophagitis6,8,9 Page 454

Eosinophilic oesophagitis is increasingly being recognised as a cause of dysphagia, gastro- Dietary adjustments (dysphagia diets)
oesophageal reflux and acute food bolus obstruction in both children (particularly) and adults. It
may present as infant colic.9 It should be considered in those who regularly experience food 1. Thin liquids, e.g. fruit juice, coffee, tea
getting stuck in their throat. It is associated with allergic disorders such as hay fever, cow’s milk
allergy and asthma. The IgE is elevated. Refer to gastroscopy, which may show eosinophilic 2. Nectar-thick liquids, e.g. creamy soup, tomato juice
infiltrates in the oesophagus on mucosal biopsies. However, symptoms usually resolve within 72
3. Honey-consistency diet (honey-thick liquids)
hours of eliminating the offending food. A six-food elimination diet (cow’s milk protein, wheat,
soy, eggs, seafood and peanuts) has been shown to reduce symptoms in up to 90%.1 Treatment of 4. Pudding-thick foods, e.g. mashed bananas, cooked cereals, purees
the acute attack includes IM buscopan and a swallowed topical corticosteroid aerosol, e.g.
fluticasone twice daily for 8 weeks.6 5. Mechanical soft foods, e.g. meat loaf, baked beans, casseroles

6. Chewy foods, e.g. pizza, cheese, bagels

Practice tips
7. Foods that fall apart, e.g. bread, rice, muffins
Although dysphagia is a common psychogenic symptom, it must always be taken
seriously and investigated. Consider nutritional methods such as nasogastric feeding and gastrostomy.
References
1 Kuo P, Holloway R. Dysphagia: how to treat. Australian Doctor, 8 February 2013: 21–8.
2 Trate DM, Parkman HP, Fisher RS. Dysphagia: evaluation, diagnosis and treatment.
Primary Care, 1996; 23: 417–32.
3 Breen K. A practical approach to patients with dysphagia or pain on swallowing. Modern
Medicine Australia, 1992; 3: 50–6.
4 Abeygunasekera S. Difficult and painful swallowing: a guide for GPs. Medicine Today,
2003; 4(10): 33–40.
5 Roman S, Kahrilas PJ. Management of spastic disorders of the esophagus. Gastroenterol
Clin North Am, 2013; 42(1): 27–43.
6 Disorders of the oesophagus [published 2016]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed October
2019.
7 Porter RS, Kaplan JL, eds. The Merck Manual (19th edn). NJ: Merck, Sharp & Dohme
Corp, 2011: 78.
8 Kakakios A, Heine R. Eosinophilic oesophagitis. Med J Aust, 2006; 185(7): 401.
9 Thomson K, Tey D, Marks M. Paediatric Handbook (8th edn). Oxford: Wiley-Blackwell,
2009: 232.
Page 455
38 Dyspnoea
When man grows old … there is much gas within his thorax, resulting in panting and troubled
breathing.
HUANG TI (2697–2597 BCE), THE YELLOW EMPEROR’S CLASSIC OF INTERNAL MEDICINE
Dyspnoea is the subjective sensation of breathlessness that is excessive for any given level of
physical activity. It is a cardinal symptom affecting the cardiopulmonary system and can be very
difficult to evaluate. Appropriate breathlessness following activities such as running to catch a
bus or climbing several flights of stairs is not abnormal but may be excessive due to obesity or
lack of fitness.
Key facts and checkpoints
Determination of the underlying cause of dyspnoea in a given patient is absolutely
essential for effective management.
The main causes of dyspnoea are lung disease, heart disease, obesity and
functional hyperventilation.1
The most common cause of dyspnoea encountered in family practice is airflow
obstruction, which is the basic abnormality seen in chronic asthma and chronic
obstructive pulmonary disease (COPD).2
Wheezing, which is a continuous musical or whistling noise, is an indication of
airflow obstruction.
Some patients with asthma do not wheeze and some patients who wheeze do not
have asthma.
Other important pulmonary causes include restrictive disease, such as fibrosis,
collapse and pleural effusion.
Dyspnoea is not inevitable in lung cancer but occurs in about 60% of cases.3
 Normal respiratory rate is 12–16 breaths/minute. Lung disease Heart disease
History of respiratory History of hypertension, cardiac ischaemia or valvular
disease heart disease
Terminology Slow development Rapid development
Present at rest Mainly on exertion
It is important to emphasise that dyspnoea or breathlessness is a subjective sensation of the
desire for increased respiratory effort and must be considered in relation to the patient’s lifestyle Productive cough common Cough uncommon and then ‘dry’
and individual tolerance of discomfort. It also depends on the age, physical fitness and physical Aggravated by respiratory Usually unaffected by respiratory infection
expectations of the person. Patients may complain of tightness in the chest and this must be infection
differentiated from angina.
Source: Adapted with permission from Stenton C. The MRC breathlessness scale. Occup Med (Lond). 2008; 58(3): 226–227.
The American Thoracic Society guide for grades of dyspnoea is: doi:10.1093/occmed/kqm162

Grade 0 No breathlessness except with strenuous exercise

Grade 1 Breathlessness when hurrying on the level or walking up a slight hill
Grade 2 Walks slower than people of the same age on the level because of
breathlessness or has to stop for breath when walking at own pace on level
Grade 3 Stops for breath after walking about 100 metres or a few minutes on the level
Grade 4 Too breathless to leave the house or breathless when dressing or undressing
Glossary of terms
The history is a good indication and a useful guideline is that dyspnoea at rest is typical of lung
disease, especially asthma, while it tends to be present on effort with heart disease as well as with
COPD.
Wheezing
Wheezing is any continuous musical expiratory noise heard with the stethoscope or otherwise.
Wheeze includes stridor, which is an inspiratory wheeze.

Hyperpnoea An increased level of ventilation (e.g. during exertion). Common causes of wheezing
Hyperventilation Overbreathing. Localised:

Orthopnoea Breathlessness lying down flat. partial bronchial obstruction:

Paroxysmal nocturnal dyspnoea Inappropriate breathlessness causing waking impacted foreign body
from sleep.
impacted mucus plugs
Tachypnoea An increased rate of breathing.
extrinsic compression

tracheomalacia
Difference between heart and lung causes
Generalised:
The distinguishing features between dyspnoea due to heart disease and to lung disease are asthma
presented in TABLE 38.1 . Page 456
obstructive bronchitis
Table 38.1 Comparison of distinguishing features between dyspnoea due to heart bronchiolitis
disease and lung disease
‘Cardiac asthma’ and bronchial asthma
The term ‘cardiac asthma’ is (somewhat confusingly) used to describe a wheezing sensation such A diagnostic approach
as that experienced with paroxysmal nocturnal dyspnoea. Differentiating features are presented
in TABLE 38.2 . A summary of the diagnostic strategy model is presented in TABLE 38.4 . Page 457

Table 38.2 Comparison of distinguishing features between ‘cardiac asthma’ Table 38.4 Dyspnoea: diagnostic strategy model
and bronchial asthma
Probability diagnosis
Cardiac Bronchial
Bronchial asthma
Dyspnoea Mainly inspiratory Mainly expiratory
Bronchiolitis (children)
Cough Follows dyspnoea Precedes dyspnoea COPD
Sputum Pink and frothy Thick and gelatinous Ageing; lack of fitness/physical deconditioning
Relief Standing up (by an open window) Coughing up sputum Left heart failure (increased left ventricular and diastolic pressure)
Intravenous diuretic/CPAP, morphine Bronchodilator Obesity
Lung signs Mainly crackles Mainly wheezes Serious disorders not to be missed
Cardiovascular:
acute heart failure (e.g. AMI)
Is it asthma or COPD? arrhythmia
pulmonary embolism
This question is often asked, especially in the middle-aged or elderly person with dyspnoea.
Differentiating features are presented in TABLE 38.3 . A mixed picture can occur, particularly as fat embolism
people with decades of asthma get older (esp. smokers). pulmonary hypertension
dissecting aneurysm
cardiomyopathy
Table 38.3 Comparison of asthma and COPD
pericardial tamponade
anaphylaxis
Asthma COPD
Neoplasia:
Symptoms <35 years Common Unusual
bronchial carcinoma, other malignancy
Smoking history Possible Invariable Severe infections:
Chronic cough Uncommon Common coronavirus infection, e.g. SARS, COVID-19
Dyspnoea Diurnal and Constant and avian influenza
variable progressive pneumonia
Response to inhaled Good Poor acute epiglottitis (children)
bronchodilator Respiratory disorders:
Nocturnal waking with Common Uncommon inhaled foreign body
symptoms upper airways obstruction
Airflow obstruction Reversible Non-reversible pneumothorax
 atelectasis myocardial infarction (may be silent, especially in diabetics), a life-threatening arrhythmia,
pleural effusion pulmonary embolism, dissecting aneurysm or a cardiomyopathy (such as viral myocarditis)
require early diagnosis and corrective action. Recurrent pulmonary embolism may present a
tuberculosis
diagnostic problem. There may be a history of deep venous thrombosis, pregnancy, malignancy
acute respiratory distress syndrome (ARDS)
or taking the contraceptive pill.4
Neuromuscular disease:
infective polyneuritis Severe infections such as lobar pneumonia, tuberculosis and myocarditis must be considered. In
poliomyelitis children, acute epiglottitis, croup, bronchiolitis, pneumonia and bronchitis are serious infections
responsible for respiratory distress.
Pitfalls (often missed)
Primary carcinoma is an important consideration, especially in dyspnoea of gradual onset. Other
Interstitial lung disease: malignant conditions to consider are metastases, lymphangitis carcinomatosis, lymphomas and
idiopathic pulmonary fibrosis pleural mesothelioma. Pleural effusion may be the mode of presentation of some of these serious
hypersensitivity pneumonitis disorders.
sarcoidosis
others Pitfalls
Chemical pneumonitis
Interstitial pulmonary disease can be a diagnostic dilemma because the physical signs and X-ray
Metabolic acidosis appearances can be minimal in the early stages despite the presence of significant dyspnoea.
Radiotherapy Allergic alveolitis, such as that caused by birds (e.g. hypersensitivity to their droppings), can be a
Kidney failure (uraemia) pitfall. The diagnosis is easier if a known disease associated with pulmonary infiltration, such as
Multiple small pulmonary emboli sarcoidosis, is present. Measuring the diffusing capacity will help with diagnosis.

Seven masquerades checklist Pericardial tamponade may cause difficulty in diagnosis either with an acute onset, such as
malignancy involving pericardium, or insidiously. The patient usually has a weak pulse with
Depression
pulsus paradoxus, hypotension and a raised jugular venous pressure.
Diabetes (incl. ketoacidosis)
Drugs It is important to be careful not to attribute dyspnoea simply to obesity or lack of fitness when it
Anaemia could have a true organic disorder such as heart failure.
Thyroid disorder (thyrotoxicosis)
Spinal dysfunction (ankylosing spondylitis) Seven masquerades checklist
Is the patient trying to tell me something? Most of the masquerades have to be considered as underlying causes. Depression can be
associated with dyspnoea, anaemia is an important cause of dyspnoea, thyrotoxicosis can rarely
Consider functional hyperventilation (anxiety and panic attacks).
present with dyspnoea and diabetic ketoacidosis can cause rapid deep breathing.

Probability diagnosis
The common causes of dyspnoea are lung disease, heart disease, obesity, anaemia (tissue
hypoxia) and functional hyperventilation. More specifically, bronchial asthma, COPD, acute
pulmonary infections and left heart failure (often insidious) are common individual causes.
Serious disorders not to be missed
Severe cardiovascular events such as acute heart failure, which may be precipitated by
Drugs must also be considered, especially as a cause of interstitial pulmonary fibrosis that
presents with dyspnoea, cough and fever. Drugs that cause this disorder include several cytotoxic
agents (especially bleomycin, cyclophosphamide, methotrexate), amiodarone, sulfasalazine,
penicillamine, nitrofurantoin, gold salts and adrenergic nasal sprays.3 Poisons that may cause
hyperventilation are salicylate, methyl alcohol, theophylline overdosage and ethylene glycol.
Anaemia must be considered, especially in those at risk. Dyspnoea is unlikely to be caused solely
by chronic anaemia unless the haemoglobin level is less than 80 g/L.4 It is more likely to occur if
another predisposing cause, such as ischaemic heart disease, is present. Page 458
 attacks, by the absence of chest pain and the absence of cardiac murmurs. ‘My breathing feels
Red flag pointers for dyspnoea tight’ indicates asthma. A complaint of ‘suffocation or feeling smothered’ or ‘just not getting
enough air’ may be a pointer to functional dyspnoea.
History Examination
Increased age Pallor/cyanosis
Sudden onset Dyspnoea at rest Table 38.5 Typical causes of dyspnoea related to
Ischaemic heart disease Fever time of onset
TB risk Hypotension
Recent travel Tachycardia
Asthma/allergy Tachypnoea Sudden
Unexplained weight loss Calf tenderness Lung collapse
Haemoptysis Chest wall signs Inhaled foreign body/other choking
Significant trauma Altered conscious state
Spontaneous pneumothorax
HIV Elevated JVP
Drugs: social, biologicals Wheezing Arrhythmia
Anaphylaxis
Myocardial infarction
Pulmonary embolism
Psychogenic considerations
Rapid (over a few hours)
Functional dyspnoea or hyperventilation is common. However, it is important to exclude organic Asthma
causation such as asthma, drugs and thyrotoxicosis before settling with the psychogenic label and
to reassure the patient strongly if there is no organic cause. Any uncomfortable sensation in the Hyperventilation (can be sudden)
chest may be interpreted as dyspnoea by anxious people. Depression, anxiety and panic attacks Acute exacerbations of COPD
may be underlying the problem. Characteristic associated features of hyperventilation with Pneumonia
anxiety include dizziness, faintness, palpitations, yawning, paraesthesia of the hands and legs, Diabetic ketoacidosis
inability to take a deep breath or a sensation of smothering. These patients may exhibit sighing
Extrinsic allergic alveolitis
and irregular breathing on examination. In true psychogenic dyspnoea, chest X-rays and
pulmonary function tests are normal but symptoms are often reproduced after 15–30 seconds of High altitude
voluntary hyperventilation. It is important to remember that it may be present in a patient who Left heart failure (acute pulmonary oedema)
has organic disease of a mild degree such as asthma. Pericardial tamponade
Poisons
The clinical approach Over days or weeks
Congestive heart failure
History Pleural effusion
Carcinoma of the bronchus/trachea
Special attention should be paid to evaluating exactly what the patient means by breathlessness
or restriction of breathing. The analysis should then include provoking factors and associated Over months or years
symptoms with a view to differentiating between pulmonary causes such as asthma and COPD. COPD
Wheeze is often (but not in all people, and not at all times) present in asthma and chronic airflow
Tuberculosis
obstruction. Most respiratory causes of dyspnoea also produce cough. The rate of development
of dyspnoea gives an indication of the possible cause (see TABLE 38.5 ).5 The sudden onset of Fibrosing alveolitis
dyspnoea at rest is suggestive of pulmonary embolism or pneumothorax. Severe dyspnoea Pneumoconiosis
developing over 1 or 2 hours is most likely due to left heart failure or bronchial asthma.
Bronchial asthma is usually easily distinguished from left heart failure by the history of previous Non-respiratory causes
Anaemia
 Hyperthyroidism Pleural Towards Decreased Stony Absent or Absent or
Obesity effusion opposite (unilateral) dull decreased decreased
(>500 mL) side (if
massive)
The dyspnoea of asthma tends to occur at rest and at night, while that with chronic Page 459 Pneumothorax Towards Decreased Hyper- Absent or Absent or
airflow obstruction occurs with exertion. (large) opposite (unilateral) resonant decreased decreased
side (if
Examination tension)
Fibrosis Midline Decreased Normal Vesicular Increased
The routine findings from inspection, percussion and auscultation will determine whether the (generalised) (bilateral)
underlying lung disease is localised or generalised. The generalised findings for various
disorders of the lungs are summarised in TABLE 38.6 . Bronchiectasis Midline Slight Resonant Bronchial Normal or
decrease to dull decreased

Table 38.6 Comparison of examination findings for various lung disorders

Chest wall Percussion Breath Vocal

Trachea
movement note sounds fremitus Careful inspection is mandatory. The patient should be stripped to the waist and observed for
Normal Midline Equal Resonant Vesicular Normal factors such as cyanosis, clubbing, pallor, mental alertness, dyspnoea at rest, use of accessory
expansion muscles, rib retraction and any other abnormalities of the chest wall. A coarse tremor or flap of
the outstretched hands indicates carbon dioxide intoxication.6 To obtain maximum value from
auscultation, request the patient to open their mouth and take deep breaths. Adventitious sounds
that are not audible during tidal breathing may then be heard. Wheezes are high-pitched
Asthma Midline Decreased Resonant Vesicular Normal or continuous sounds heard either in expiration or inspiration, being more pronounced in expiration.
(bilateral) — decreased
prolonged Crackles are short interrupted sounds heard mainly at the end of inspiration, resembling the
expiration crackling sound of hair being rubbed between the fingers near the ear. Fine crackles, previously
referred to as crepitations, occur typically in lobar pneumonia and diffuse interstitial fibrosis, and
Emphysema Midline Decreased Resonant Vesicular Decreased are not cleared by coughing. Medium crackles are typical of congestive cardiac failure, while
(bilateral) to hyper- — coarse crackles indicate airway mucus and usually clear on coughing. Page 460
resonant decreased
Causes of pulmonary crackles
Left ventricular failure
Consolidation Midline Decreased Dull Bronchial Increased
(e.g. lobar on Idiopathic pulmonary fibrosis
pneumonia) affected
Extrinsic allergic alveolitis
side
Collapse: Towards Decreased Dull Absent or Absent or Pneumonia
major affected (unilateral) decreased decreased
bronchus side Bronchiectasis
Collapse: Towards Decreased Dull Bronchial Increased Chronic bronchitis
peripheral affected (unilateral)
bronchus side
 Asbestosis

Pulmonary fibrosis

Investigations
The two most important initial investigations for respiratory disease are chest X-ray and
pulmonary function tests.

Pulmonary function tests (PFTs)

These relatively simple tests provide considerable information.

Peak expiratory flow rate

The most practical instrument for office use to detect chronic airway obstruction due to asthma
or chronic bronchitis is the mini peak flow meter, which measures peak expiratory flow rate
(PEFR). However, it gives considerably less information than spirometry.

The interpretation of the tests, which vary according to sex, age and height, requires charts of
predicted normal values. A chart for PEFR in normal adult subjects is presented in Appendix V. FIGURE 38.1 Spirometry patterns showing normal flow volume loop
The value for a particular patient should be the best of three results.

Spirometry

Spirometry is the gold standard test, and increasingly available in general practice. The
measurement of the forced vital capacity (FVC) and the forced expiratory volume in one second
(FEV1) provide a very useful guide to the type of ventilatory deficit. Both the FVC and the FEV1
are related to sex, age and height.

The FEV1 expressed as a percentage of the FVC is an excellent measure of airflow limitation. In
normal subjects it is approximately 70%. A normal spirometry pattern is shown in FIGURE 38.1
and abnormal patterns in FIGURE 38.2 . FIGURE 38.3 summarises the relative values for these
conditions.
 FIGURE 38.2 Maximum expiratory and inspiratory flow volume curves with performed by a respiratory technician under medical supervision. The test is potentially
dangerous.
examples of relative changes of patterns
Other investigations (to select from)
Haemoglobin, red cell indices and PCV

White blood cell count (e.g. eosinophilia of asthma)

Sputum, culture and cytology

Tuberculosis tests

ESR/CRP

Arterial blood gas analysis

Cardiological investigations:

ECG, including exercise

FIGURE 38.3 Spirograms
echocardiography (technically difficult in emphysema)
Lung volume nuclear gated blood pool scan to assess heart function
Tidal volume (TV) and vital capacity (VC) can be measured by a simple spirometer but the total cardiac enzymes
lung capacity and the residual volume are measured by the helium dilution method in a
respiratory laboratory (rarely required). Page 461 Other medical imaging:

Diffusing capacity (gas transfer factor) high-resolution CT (modality of choice for interstitial lung disease)

This test measures the carbon monoxide uptake by a single breath analysis for whole lungs. In MRI
normal lungs the transfer factor is a true measure of the diffusing capacity of the lungs for
oxygen and depends on the thickness of the alveolar-capillary membrane.5 Gas transfer is usually ventilation and perfusion radionuclide scan (pulmonary embolism)
reduced in patients with severe degrees of emphysema and fibrosis, anaemia and congestive
cardiac failure. Useful for COPD and interstitial lung disease. Normal in asthma. Bronchoscopy, especially fibre-optic bronchoscopy

Thoracocentesis and pleural biopsy

Pulse oximetry
Open lung biopsy
An outstanding monitoring aid is transcutaneous pulse oximetry, which estimates oxygen
saturation (SpO2) of capillary blood. The estimates are generally very accurate and correlate to Alpha1-antitrypsin measurement (normal range 1.1–2.2 g/L)
within 5% of measured arterial O2 saturation (SaO2).7 The ideal level is 97–100%; median levels
—neonates 97%, children 98%, adults 98%. <92% is very serious. Pleural effusion
Histamine challenge test Key points
This test indicates the presence of airway or bronchial hyper-reactivity, which is a fundamental Normal pleural space has 10–20 mL fluid
feature with asthma. The test should not be performed on those with poor lung function and only
 Can be detected on X-ray if >300 mL fluid in pleural space
Can be detected clinically if >500 mL fluid
Can be subpulmonary—simulates a raised diaphragm
May be asymptomatic
Dyspnoea common with large effusion
Chest pain in setting of pleuritis, infection or trauma
Signs: refer TABLE 38.6
The fluid may be transudate or exudate (diagnosed by aspirate)
If bloodstained—malignancy, pulmonary infarction, TB
Transudate
Protein content <25 g/L; lactic dehydrogenase <200 IU/L.
Causes
Heart failure (90% of cases)
Hypoproteinaemia, e.g. nephrotic syndrome
Liver failure with ascites
Constrictive pericarditis
Hypothyroidism
Ovarian tumour—right-sided effusion (Meigs syndrome)
Exudate
Protein content >35 g/L; lactic dehydrogenase >200 IU/L
Causes
Infection—bacterial pneumonia, pleurisy, empyema, TB, viral
Malignancy—bronchial carcinoma, mesothelioma, metastatic
Pulmonary infarction
Connective tissue diseases (e.g. SLE, RA)
Acute pancreatitis
Lymphoma
Sarcoidosis
HIV with parasitic pneumonia
Management
Aspiration if symptomatic: may require repeats and pleurodesis. Treat the underlying cause.
Dyspnoea in children
There are numerous causes of dyspnoea in children but the common causes are asthma,
bronchiolitis and pulmonary infections. The important infections that can be fatal—croup,
epiglottitis and myocarditis—must be kept in mind and intensively managed.
Bronchiolitis is an important cause of respiratory distress in infants under 6–12 months. It should
not be confused with asthma (refer to CHAPTER 89 ) and does not respond to salbutamol or
corticosteroids.
Sudden breathlessness or stridor may be due to an inhaled foreign body. Signs of lobar collapse
may be present but physical examination may be of little help and a chest X-ray is essential.
Cardiovascular disorders, including congenital heart disease, can cause dyspnoea. Extra
respiratory causes include anaemia, acidosis, aspiration, poisoning and hyperventilation.
Dyspnoea in the elderly
Dyspnoea in the elderly is common and is caused usually by heart failure and COPD. Other
associations with ageing include lung cancer, pulmonary fibrosis and drugs. The classic problem
of the aged is acute heart failure that develops typically in the early morning hours. The acute
brain syndrome is a common presentation of all these disorders.
Page 462
Respiratory disease in the elderly
The respiratory system, like most other bodily systems, matures until about the age of 25 years
and subsequently slowly loses efficiency due to a variety of factors such as disease, smoking,
pollution and ageing. There is a decline in lung function and gas exchange, and decreased
ventilatory responses to hypoxia and hypercapnia.
Heart failure
Heart failure occurs when the heart is unable to maintain sufficient cardiac output to meet the with normal resonance. If ILD is suspected, referral to a specialist physician for diagnosis is
demands of the body. Dyspnoea is a common early symptom as pulmonary congestion causes advisable.
hypoxia (increased ventilation) and decreased compliance (increased work). The incidence of
congestive cardiac failure (CCF) has been increasing steeply, partly due to the ageing population. Causes of widespread interstitial pulmonary fibrosis include:

Symptoms idiopathic pulmonary fibrosis

Increasing dyspnoea progressing to (in order): hypersensitivity pneumonitis (extrinsic allergic alveolitis)

drug-induced
fatigue, especially exertional fatigue

paroxysmal nocturnal dyspnoea lymphangitis carcinomatosis

weight change: gain or loss various occupational lung disorders (pneumoconiosis)

It is convenient to divide heart failure into left and right heart failure but they rarely occur in sarcoidosis
isolation and often occur simultaneously. Right failure is invariably secondary to left failure. The acute pulmonary oedema
distinction between systolic and diastolic dysfunction is increasingly being replaced by the
related concept of heart failure with reduced or preserved ejection fraction (HFrEF and HFpEF). immunological/multisystemic disease (e.g. connective tissue disorders, rheumatoid arthritis,
Both present in the same way clinically; diagnosis requires echocardiography and sometimes vasculitis, inflammatory bowel disease)
other tests such as BNP. This permits an accurate diagnosis and prognosis, and helps guide
treatment. Common clinical features:
Refer to Chronic heart failure (CHAPTER 76 ). dyspnoea and dry cough (insidious onset)

Chronic obstructive pulmonary disease fine inspiratory crackles at lung base with faint breath sounds

Chronic bronchitis and emphysema should be considered together as both these conditions cyanosis and finger clubbing may be present
usually coexist to some degree in each patient. An alternative, and preferable, term—chronic
PFTs:
obstructive pulmonary disease (COPD)—is used to cover chronic bronchitis and emphysema
with chronic airflow limitation.6 restrictive ventilatory deficit
For more detail on the management of COPD refer to CHAPTER 74 . decrease in gas transfer factor

characteristic X-ray changes

High-resolution CT scanning has been a major advance in diagnosis. May show ‘honeycomb
Interstitial lung diseases (ILD) lung’.

Interstitial lung diseases comprise a group of disorders that have the common features of
inflammation (pneumonitis) and fibrosis of the interalveolar septum, representing a non-specific
reaction of the lung to injury of various causes.8,9
In many there is a hypersensitivity reaction to various unusual antigens. The fibrosis may be
localised as following unresolved pneumonia, bilateral as with tuberculosis or widespread.
Page 463
Consider the possibility of fibrosis of the lungs in chronic dyspnoea and a dry cough
Idiopathic pulmonary fibrosis
Idiopathic pulmonary fibrosis, also known as idiopathic fibrosing interstitial pneumonia and
cryptogenic fibrosing alveolitis, is the most common diagnosis among those presenting with
interstitial lung disease.
People usually present in the fifth to seventh decade with the clinical features as outlined under
interstitial lung diseases, such as slowly progressive dyspnoea over months to years. Chest X-ray
abnormalities are variable but include bilateral diffuse nodular or reticulonodular shadowing elevated serum ACE (non-specific)
favouring the lung bases. High-resolution CT scans are effective for diagnosis. Open lung biopsy
may be needed for diagnosis and staging. The usual prognosis is poor, with death occurring PFTs: restrictive pattern; impaired gas transfer in advanced cases
about 3.5–5 years after diagnosis. The usual treatment is high doses of oral corticosteroids with
azathioprine and no smoking.9,10 +tive Kveim test (not recommended these days)

If refractory, refer to a palliative care service.11 serum calcium

Treatment
Pulmonary sarcoidosis
Sarcoidosis may resolve spontaneously (hilar lymphadenopathy without lung involvement does
Sarcoidosis is a multisystemic disorder of unknown aetiology, which is characterised by non- not require treatment).
caseating granulomatous inflammation that involves the lung in about 90% of affected patients.
A characteristic feature is bilateral hilar lymphadenopathy, which is often symptomless and Indications for treatment with corticosteroids:
detected on routine chest X-ray (CXR). Radiological lung involvement can be associated with or
occur independently of hilar lymphadenopathy. no spontaneous improvement or worsening after 3–6 months

Clinical features8,9 symptomatic pulmonary lesions

May be asymptomatic (one-third) eye, CNS and other systems involvement

Onset usually third or fourth decade (but any age) hypercalcaemia, hypercalciuria

Bilateral hilar lymphadenopathy (on CXR) erythema nodosum with arthralgia

Cough persistent cough Page 464

Fever, malaise, arthralgia

Glossary of terms
Skin lesions: erythema nodosum, lupus pernio
Chronic airflow limitation A physiological process measured as impairment of
Ocular lesions (e.g. anterior uveitis) forced expiratory flow, which is the major cause of dyspnoea in these patients.
Other multiple organ lesions (uncommon) Chronic bronchitis A clinical condition characterised by a productive cough on
most days for at least 3 months of the year for at least 2 consecutive years in the
Overall mortality 2–5% absence of any other respiratory disease that could be responsible for such
excessive sputum production (such as tuberculosis or bronchiectasis).
Erythema nodosum with an acute swinging fever, malaise and arthralgia in a young adult female
is diagnostic of sarcoidosis. COPD A chronic, slowly progressive disorder characterised by the presence of
airway obstruction, which may (or may not) be partially reversible by
Diagnosis bronchodilator therapy.8
Histological evidence from biopsy specimen, usually transbronchial biopsy (essential if an Emphysema This is defined in pathological rather than clinical terms as permanent
alternative diagnosis, e.g. lymphoma, cannot be excluded) or skin biopsy in cases of erythema dilatation and destruction of lung tissue distal to the terminal bronchioles.
nodosum. A better modern diagnostic method is biopsy via video-assisted thoracoscopy.

Supporting evidence:
Corticosteroid treatment9
 Prednisolone 0.5 mg/kg (up to 50 mg) (o) daily for 4–6 weeks, then reduce to lowest dose that Sisal worker’s lung Sisal dust
maintains improvement.9 If there is a response, taper the dose to 10–15 mg (o) daily as a Sericultural workers Silkworms
maintenance dose for 6–12 months.9
Furrier’s lung Fur dust
Prednisolone 20–30 mg for 2 weeks for erythema nodosum of sarcoidosis. Sausage workers Dust
Prawn workers Prawn fumes
Hypersensitivity pneumonitis
Hypersensitivity pneumonitis (extrinsic allergic alveolitis) is characterised by a widespread
Illness may present as acute or subacute episodes of pyrexia, chills and malaise with dyspnoea
diffuse inflammatory reaction in both the small airways of the lung and the alveoli, due to the
inhalation of allergens, which are usually spores of micro-organisms such as thermophilic and a peripheral neutrophil several hours after exposure.12 Management is based on prevention,
actinomycetes in ‘farmer’s lung’ or (more commonly) avian protein from droppings or feathers namely avoiding exposure to allergens or wearing protective, fine-mesh masks. Prednisolone can
in ‘bird fancier’s lung’. Occupational causes of extrinsic alveolitis have been described by be used (with caution) to control acute symptoms. Note that this allergic disorder is different
from the infection psittacosis.
Molina12 (see TABLE 38.7 ).

Drug-induced interstitial lung disease9

Table 38.7 Various causes of hypersensitivity pneumonitis (extrinsic allergic
alveolitis) Drugs are an important cause of this disorder and have three main effects:

1. Alveolitis with or without pulmonary fibrosis. This is mainly due to cytotoxic drugs,
Occupation/disease Source of antigen nitrofurantoin and amiodarone. The drug should be removed and consideration given to
Farmer’s lung Mouldy hay, grain and straw prescribing prednisolone 50 mg (o) daily for several weeks, depending on response.
Bagassosis Mouldy sugar cane fibre (bagasse) 2. Eosinophilic reactions. This is presumably an immunological reaction, which may present as
Bird fancier’s lung Avian proteins: dropping dust (e.g. from pigeons); ‘bloom’ on wheezing, dyspnoea, a maculopapular rash and pyrexia. The many implicated drugs include
budgerigar feathers various antibiotics, NSAIDs, cytotoxic agents, major tranquillisers and antidepressants, and
anti-epileptics. Treatment is drug removal and a short course of prednisolone 20–40 mg (o)
Mushroom worker’s Mushroom compost
lung daily for 2 weeks. Page 465

Cheese washer’s Moulds or mites on cheese 3. Non-cardiogenic acute pulmonary oedema. This is rare and has been reported to occur with
lung opioids, aspirin, hydrochlorothiazide, β2-adrenoceptor agonists (given IV to suppress
premature labour), cytotoxics, interleukin-2, heroin.
Wheat weevil lung Infested wheat flour (insect)
Ventilator Humidified hot air system
pneumonitis
Occupational pulmonary disease
Air-conditioning system
Wood pulp worker’s Contaminated wood dust Various types of acute and chronic pulmonary diseases are related to exposure to noxious
disorder substances such as dusts, gases and vapours in the workplace. Common chemical causes include
formaldehyde used in processed woods, e.g. chipboard and medium-density fibre. GPs have a
Detergent worker’s Proteolytic enzymes crucial role in the identification of the possible work-relatedness of lung disease.
disorder
Suberosis Mouldy cork bark Disorders due to chemical agents include:

Rat handler’s lung Rat urine and serum obstructive airways disorders, such as occupational asthma, acute bronchitis, (chronic)
Malt worker’s lung Mouldy barley industrial bronchitis, byssinosis (asthma-like condition due to cotton dust)

Coffee worker’s lung Coffee dust hypersensitivity pneumonitis

 pulmonary fibrosis (pneumoconiosis) due to mineral dust
lung cancer due to industrial agents such as asbestos, various hydrocarbons
pleural disorders, usually associated with asbestosis
Pneumoconiosis
The term ‘pneumoconiosis’ refers to the accumulation of dust in the lungs and the reaction of
tissue to its presence, namely chronic fibrosis. The main cause worldwide is inhalation of coal
dust, a specific severe variety being progressive massive fibrosis (complicated coal worker’s
pneumoconiosis) in which the patient suffers severe dyspnoea of effort and a cough often
productive of black sputum. TABLE 38.8 summarises the important causes.
Of particular concern are diseases caused by inhalation of fibres of asbestos, which is a mixture
of silicates of iron, magnesium, cadmium, nickel and aluminium. These diseases include
asbestosis, diffuse pleural thickening, pleural plaques, mesothelioma and increased bronchial
carcinoma in smokers. Pulmonary asbestosis has classic X-ray changes but high-resolution CT
scans may be required to confirm the presence of calcified pleural plaques. It usually takes 10–20
years from exposure for asbestosis to develop and 20–40 years for mesothelioma to develop,8
while bronchial carcinoma is caused by the synergistic effects of asbestosis and cigarette
smoking.
Silicosis
Silicosis, caused by the inhalation of very fibrogenic silica particles, is a constant concern for
workers. Mild cases cause no or minimal symptoms, but those affected experience progressive
dyspnoea, intense dry cough and weakness.

Table 38.8 Selected pneumoconioses Investigations include FBE, chest X-ray, CT scan, pulse oximetry and spirometry (restrictive
ventilatory defect).
Fibrotic lung disease Agent Typical occupations Management: avoid further exposure, wear special protective masks and check for associated
Coal dust tuberculosis.
Coal worker’s pneumoconiosis Coal dust Coal mining
Metal dust
Acute respiratory distress syndrome (ARDS)
Siderosis Metallic iron or iron oxide Mining ARDS, also known as acute lung injury and formerly called ‘adult respiratory distress
Welding syndrome’, refers to acute hypoxaemic respiratory failure following a pulmonary or systemic
insult with no apparent cardiogenic cause of pulmonary oedema. This occurs about 12–48 hours
Foundry work after the event.13 The most common cause is sepsis, which accounts for about one-third of ARDS
Inorganic dusts patients. The mortality rate is 30–40%, increasing if accompanied by sepsis. Management is
based on early diagnosis, early referral, identification and treatment of the underlying condition
Silicosis Silica (silicon dioxide) Quarrying and then optimal intensive care.14 Page 466
Demolition
Rock mining Clinical features
Stone masons Sudden onset of respiratory distress
Sandblasting
Stiff lungs—reduced lung compliance
Silicate dusts
Asbestosis Asbestos Mining Refractory hypoxaemia

Shipbuilding Bilateral pulmonary infiltrates on X-ray

Insulation
No apparent evidence of congestive heart failure
Power stations
Absence of elevated left atrial pressure
Wharf labouring
Specific gas exchange abnormalities
 Signs: tachypnoea, laboured breathing, rib retraction, central cyanosis, fine crackles on
auscultation
The differential diagnoses are pneumonia and acute heart failure. Common risk
factors/associations for ARDS include (indirectly—systemic)—sepsis, shock, trauma, burns,
drug overdose (e.g. heroin), multiple transfusions, obstetric complications (e.g. eclampsia,
amniotic fluid embolism), and many direct causes such as pulmonary aspiration, toxic gas
inhalation, blast injury and pneumonia (e.g. COVID-19, SARS). Admit to an intensive care unit.
Coronavirus infection and COVID-19 15
The disease caused by the SARS-CoV-2 coronavirus was declared by WHO to be a pandemic in
March 2020 (see CHAPTER 18 ). It has since proven to be the most deadly respiratory pandemic
in a century.16 Widespread vaccination commenced around a year after the virus was first
identified. The mortality rate is around 1–2% (around 10 times the seasonal influenza rate), with
most fatalities in those aged over 50 years; deaths in children are very rare.
Effective primary preventive measures at an individual level include: regular handwashing,
social/physical distancing, avoiding large gatherings (particularly indoors), wearing face masks
and coughing/sneezing etiquette. The majority of transmission is via asymptomatic (usually pre-
symptomatic) individuals—hence the need for universal precautions (see CHAPTER 18 ).
Key features
Most get mild symptoms similar to URTIs: mild fever, dry cough, sore throat, rhinorrhoea,
malaise, headache, muscle pain.
Diarrhoea and vomiting are common, and loss of taste/smell is notable.
Dyspnoea (respiratory distress caused by pneumonia) increases with the severity of the illness,
and is a cardinal feature in those requiring ICU admission.
Extrapulmonary complications include septic shock, acute kidney injury (proteinuria is
common), altered mental state and multiorgan failure.
There is no effective, specific treatment for the virus; treatment is supportive.
Long COVID: of those hospitalised, 70% report fatigue and half remain breathless 1–2 months
post-discharge.17
Dyspnoea is usually due to resolving infection and deconditioning—but bear in mind the
increased risk of lung fibrosis, pulmonary embolus, myocarditis, heart failure and rhythm
disturbance.18
GPs should critically review ongoing symptoms, offer supportive treatment and investigate
where necessary.
Practice tips
Remember to order a chest X-ray and pulmonary function tests in all doubtful
cases of dyspnoea.
All heart diseases have dyspnoea as a common early symptom.
Increasing dyspnoea on exertion may be the earliest symptom of incipient heart
failure.
Several drugs can produce a wide variety of respiratory disorders, particularly
pulmonary fibrosis and pulmonary eosinophilia. Amiodarone and cytotoxic drugs,
especially bleomycin, are the main causes.
Dyspnoea in the presence of lung cancer may be caused by many factors, such
as pleural effusion, lobar collapse, upper airway obstruction and lymphangitis
carcinomatosis.
The abrupt onset of severe dyspnoea suggests pneumothorax or pulmonary
embolism.
If a patient develops a relapse of dyspnoea while on digoxin therapy, consider the
real possibility of digoxin toxicity and/or electrolyte abnormalities leading to left
heart failure.
Recurrent attacks of sudden dyspnoea, especially waking the patient at night, are
suggestive of asthma or left heart failure.
Causes of hyperventilation include drugs, asthma, thyrotoxicosis and panic
attacks/anxiety.
Bronchial carcinoma
Dyspnoea is associated with about 60% of cases of lung cancer3 (see CHAPTER 32 ). It is not a
common early symptom unless bronchial occlusion causes extrinsic collapse. In advanced
cancer, whether primary or secondary, direct spread or metastases may cause dyspnoea. Other
factors include pleural effusion, lobar collapse, metastatic infiltration, upper airway obstruction
due to superior vena cava (SVC) obstruction and lymphangitis carcinomatosis. A special
problem arises with coexisting chronic bronchitis and emphysema.
Page 467
When to refer
 Patients with acute onset of severe dyspnoea Papadakis MA, McPhee SP. Current Medical Diagnosis and Treatment (52nd edn). New
8
York: The McGraw-Hill Companies, 2013: 1602.
All patients with heart failure resistant to initial therapy or where the diagnosis is in doubt
9 Interstitial lung disease [updated 2020]. In: Therapeutic Guidelines [digital]. Melbourne:
Patients with pulmonary disease of uncertain aetiology, especially those requiring respiratory Therapeutic Guidelines; 2020. www.tg.org.au, accessed October 2019.
function tests
10 National Institute for Health and Care Excellence (NICE). Idiopathic pulmonary fibrosis
Those in whom lung cancer is suspected [CG163]. London: NICE, 2013. Available from: www.nice.org.uk, accessed 29 May 2018.

11 Raghu G et al. An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis:

Patient education resources evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med,
2011; 183(6): 788–824.
Hand-out sheets from Murtagh’s Patient Education 8th edition:
12 Molina C. Occupational extrinsic allergic alveolitis. In: Pepys J, ed. Clinics in Immunology
Acute respiratory distress syndrome and Allergy. London: WB Saunders, 1984: 173–90.
Asthma 13 Rameri VM et al. Acute respiratory distress syndrome. The ARDS Definition Task Force:
the Berlin definition. JAMA, 2012, Jun 20; 307: 2526–33.
Asthma in children
14 Ware LB et al. The acute respiratory distress syndrome. N Engl J Med, 2000; 342: 1334.
Chronic obstructive pulmonary disease
15 Cascella M et al. Features, evaluation, and treatment of coronavirus. [Updated 4 Oct
Asthma: dangerous asthma 2020]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; January 2020.
Available from: https://www.ncbi.nlm.nih.gov/books/NBK554776/, accessed March 2021.
Heart failure
16 Piper K. Here’s how Covid-19 ranks among the worst plagues in history. Vox, 11 January
Silicosis 2021. Available from: https://www.vox.com/future-perfect/21539483/covid-19-black-
deathplagues-in-history, accessed March 2021.
References
17 Williams F. Long COVID: who is at risk? The Conversation, 5 January 2021. Available
from: https://theconversation.com/long-covid-who-is-at-risk-151797, accessed March
1 Stenton C. The MRC breathlessness scale. Occup Med (Lond), 2008; 58(3): 226–7.
2021.
2 Cormack J, Marinker M, Morrell D. Practice: A Handbook of Primary Health Care.
18 Greenhalgh T et al. Management of post-acute covid-19 in primary care. BMJ, 2020; 370:
London: Kluwer-Harrap Handbooks, 1980; 3(29): 3.
m3026.
3 Walsh TD. Symptom Control. Boston: Blackwell Scientific Publications, 1989: 157–64.

4 Beck ER, Francis JL, Souhami RL. Tutorials in Differential Diagnosis (3rd edn).
Edinburgh: Churchill Livingstone, 1993: 37.

5 Kelly DT. Cardiac failure. In: MIMS Disease Index (2nd edn). Sydney: IMS Publishing,
1996: 97–9.

6 Kumar PJ, Clark ML. Clinical Medicine (7th edn). London: Elsevier, 2009: 819–28.

7 Porter RS, Kaplan JL. The Merck Manual of Diagnosis and Therapy (19th edn). NJ:
Merck Sharp & Dohme Corp., 2011: 1856.
 Barotrauma
Page 468
Acute otitis media
Chronic otitis media and cholesteatoma
Acute mastoiditis
2 Periotic cause
39 The painful ear Dental disorders, e.g. dental abscess; malocclusion
Upper cervical spinal dysfunction
TMJ arthralgia
Parotitis
The ears should be kept perfectly clean; but it must never be done in company. It should never be Temporal arteritis
done with a pin, and still less with the fingers, but always with an ear picker. Lymph node inflammation
Other referred causes
ST JEAN BAPTISTE DE LA SALLE (1651–1719)
Pharyngeal disorders
Pain in the ear (otalgia) is a common symptom in general practice. It affects all ages, but is most Tonsillitis
prevalent in children, where otitis media is the commonest cause. Ear pain may be caused by Glossopharyngeal neuralgia
disorders of the ear or may arise from other structures, and in many instances the precise
diagnosis is difficult to make. Important causes of ear pain are summarised in TABLE 39.1 .1
A patient with a painful ear often requests urgent attention, and calls in the middle of the night
Table 39.1 from anxious parents of a screaming child are commonplace. Infants may present with nothing
Causes of ear pain except malaise, vomiting or screaming attacks.

1 Ear
Key facts and checkpoints
External ear:
Perichondritis Of patients presenting with earache, 77% can be expected to have acute otitis
Otitis externa: media and 12% otitis externa.
– Candida albicans
Approximately 1 in every 25 patients in general practice will present with an
– Aspergillus nigra earache.
– Pseudomonas spp.
– Staphylococcus aureus Two-thirds of children will sustain at least one episode of otitis media by their
Furunculosis second birthday; 1 in 7 children will have had more than 6 episodes by this age.
Peak prevalence is 9–15 months.2
Trauma
Neoplasia Otitis media is unlikely to be present if the tympanic membrane (TM) is mobile.
Herpes zoster (Ramsay–Hunt syndrome) Pneumatic otoscopy greatly assists diagnosis since the most valuable sign of otitis
Viral myringitis media is absent or diminished motility of the TM.
Wax-impacted Bullous myringitis, which causes haemorrhagic blistering of the eardrum or external
Middle ear: ear canal, is an uncommon cause of severe pain. It is caused by a virus, probably
Eustachian insufficiency influenza.3 Consider herpes zoster.
Eustachian tube dysfunction
 The role of antibiotics (usually amoxicillin) is limited. from the wound
from TMJ due to mouth gag
Otitis externa can be distinguished from otitis media by pain on movement of the
pinna. Seven masquerades checklist
Depression
Spinal dysfunction (cervical)
A diagnostic approach Is the patient trying to tell me something?

The five self-posed questions can be answered using the diagnostic strategy model (see Page 469 Unlikely, but always possible with pain. More likely in children. Consider factitious
TABLE 39.2 ). pain.

Table 39.2 The painful ear: diagnostic strategy model Probability diagnosis
Probability diagnosis The commonest cause of ear pain is acute otitis media. Chronic otitis media (often painless) and
otitis externa are also common. In the tropics, ‘tropical ear’ due to acute bacterial otitis is a
Otitis media (viral or bacterial) particular problem. Temporomandibular joint (TMJ) arthralgia, which may be acute or chronic,
Otitis externa (fungal, viral or bacterial) is also common and must be considered, especially when otitis media and otitis externa are
TMJ arthralgia excluded.
Eustachian tube dysfunction
Serious disorders not to be missed
Serious disorders not to be missed
Neoplasia of external ear As always, it is important not to overlook malignant diseases, especially the obscure ones, such
Cancer of other sites (e.g. tongue, nasopharynx) as cancer of the tongue, palate or tonsils, which cause referred pain.
Herpes zoster (Ramsay–Hunt syndrome) Locally destructive cholesteatoma associated with chronic otitis media must be searched for. It
Acute mastoiditis signifies the ‘unsafe’ ear (see FIG. 39.1 ) that must be distinguished from the so-called ‘safe’
Cholesteatoma ear (see FIG. 39.2 ).
Necrotising otitis externa
Pitfalls (often missed)
Foreign bodies in ear
Hard ear wax
Barotrauma
Dental causes (e.g. abscess)
Referred pain: neck, throat
Unerupted wisdom tooth and other dental causes
TMJ arthralgia
Facial neuralgias, esp. glossopharyngeal
Chondrodermatitis nodularis helicis
Furuncles of canal or pinna
Post tonsillectomy:
 FIGURE 39.1 Infected ear: unsafe perforation Downward displacement of pinna

Swelling behind ear

Neurological symptoms (e.g. headaches, drowsiness)

Older person: unexplained, intractable ear pain

Persistent fever

Seven masquerades checklist

FIGURE 39.2 Infected ear: safe perforation
Herpes zoster should be considered; it is easily missed if it does not erupt on the pinna and is
confined to the ear canal (usually the posterior wall), and especially in the older person.
Pitfalls
The medical aphorism ‘more things are missed by not looking than by not knowing’ applies
particularly to the painful ear—good illumination and focusing of the auroscope are mandatory.
Particular attention should be paid to the external canal—look for hard wax, otitis externa,
furuncles and foreign objects such as insects.
Of the conditions in the checklist, depression and dysfunction of the upper cervical spine have to
be considered. Depressive illnesses should be considered in any patient complaining of chronic
pain.
Disorders of the upper cervical spine are an occasional overlooked cause of periotic pain. Pain
from the C2 and C3 levels is referred to the posterior region of the ear.
Psychogenic considerations
Such factors are unlikely, although pain in the periotic region can be magnified by a depressive
state.

It may not be possible to visualise the TMs so consider cleaning the canal to permit this (if
The clinical approach
possible, on the first visit), particularly if there are any atypical presenting features. Otitis media
may coexist with otitis externa. Barotrauma should be considered, especially if pain follows air History
travel or diving. Page 470

In assessing the painful ear the relevant features are:

General pitfalls
site of pain and radiation
Failing to visualise the TM before diagnosis and treatment
details of the onset of pain
Not checking out possible referral sites such as the oropharynx and teeth
nature of the pain
Overlooking musculoskeletal causes such as TMJ arthralgia and cervical spondylosis
aggravating or relieving factors, especially swimming
Failing to recognise the unsafe ear
associated features such as deafness, discharge, vertigo, tinnitus and irritation of the external
ear, sore throat
Red flag pointers for painful ear
Agonising pain may be caused by perichondritis or furunculosis of the external ear and by the
Offensive discharge >9 days rare problem of herpes zoster (Ramsay–Hunt syndrome).3 Movement of the pinna markedly
increases the pain of acute otitis externa and perichondritis, and movement of the jaw usually
causes an exacerbation of TMJ arthralgia or severe otitis externa.
Key questions (especially children)
Where is the pain?

Is it in the ear, behind or below it?

Is it in one ear or both ears?

Have you noticed any other symptoms such as sore throat, fever or vomiting?

Has anyone hit you over the ear?

Has there been a discharge from the ear?

Have you noticed any deafness?

Are you allergic to penicillin?

Have you been swimming in a spa, and where?

Have you been in an aeroplane?

Examination
FIGURE 39.3 Normal right tympanic membrane
The person’s general state and behaviour is observed during the history taking. Sudden, jabbing
pain may indicate neuralgia, particularly glossopharyngeal neuralgia or a severe infection. The If the diagnosis is still doubtful, look for causes of referred pain; inspect the cervical spine, the
external ear is carefully inspected and the pinna manipulated to determine any tenderness. nose and postnasal space and the mouth, including the teeth (percuss molars with a tongue
Palpate the face and neck and include the parotid glands, the regional lymph nodes, the mastoid depressor), pharynx and larynx.
process and the skin. Inspect the TMJs—tenderness from dysfunction typically lies immediately Pharyngeal and mandibular causes of periotic pain are summarised in FIGURES 39.4 and
in front of the external auditory meatus. Palpate the TMJ over the lateral aspect at the joint disc.
39.5 .
Ask the patient to open the mouth fully; tenderness is maximal. The TMJ can be palpated
posteriorly by inserting the little finger into the external canal.

Inspect both ear canals and TMs with the auroscope, using the largest earpiece that comfortably
fits into the canal. Better visualisation of the TM can be achieved by pulling the pinna back and
downwards in young children and up and back in older children—see FIGURE 39.3 for normal
appearance. The diagnostic examination features of acute otitis media are illustrated in
FIGS. 39.8 and 39.9 . Impacted wax does not often explain the otalgia. If herpes zoster
involves the facial nerve, vesicles may be noted in and around the external auditory meatus
(notably the posterior wall). Page 471
 FIGURE 39.4 Pharyngeal causes of otalgia externa, external canal furuncle or abscess, chronic eczema with fissuring of the auricle,
impacted wax, foreign body, barotrauma, perichondritis, mastoiditis and bullous myringitis.
Source: Courtesy of Bruce Black Secondary otalgia includes pharyngeal lesions, dental problems, gingivostomatitis, mumps and
postauricular lymphadenopathy. Peritonsillar abscess (quinsy) may cause ear pain.

Foreign bodies
Foreign bodies (FBs) are frequently inserted into the ear canal (see FIG. 39.6 ). They can
usually be syringed out or lifted with thin forceps. Various improvised methods can be used to
remove FBs in cooperative children. These include a probe to roll out the FB, a hooked needle or
a rubber catheter used as a form of suction, or otherwise a fine sucker.4

Page 472

FIGURE 39.5 Mandibular causes of otalgia

Source: Courtesy of Bruce Black

Inspect sites supplied by the nerves V2, IX, X, XI, C1, C2 and C3 to exclude other causes of
referred pain.

Investigations
Investigations are seldom necessary. Office-based hearing tests are useful, especially for
children; use speech discrimination, hair rubbing and/or tuning fork tests. For potentially
ongoing conditions such as chronic otitis media, refer for audiometry. Audiometry combined
with tympanometry and physical measurement of the volume of the ear canal can be performed
in children, irrespective of age.
Swabs from discharge, especially to determine bacterial causes, such as Staphylococcus aureus
or Pseudomonas spp. infection, may be necessary. However, swabs are of no value if the TM is
intact.
FIGURE 39.6 Foreign body (bead) in ear canal of a 3-year-old child, showing
reactive tissue in ear canal
Probe method
This requires good vision using a head mirror or head light and a thin probe. The probe is
inserted under and just beyond the FB. Lever it in such a way that the tip of the probe ‘rolls’ the
foreign body out of the obstructed passage. With practice, this can be done with the probe
inserted through the middle of an auriscope whose lens is slid half-way open.

Radiology and CT/MRI scanning may be indicated for special conditions such as a suspected
extraotic malignancy.
Ear pain in children
Important causes of primary otalgia in children include otitis media (particularly acute), otitis
Rubber catheter suction method
The only equipment required for this relatively simple and painless method is a straight rubber
catheter (large type) and perhaps a suction pump. The end of the catheter is cut at right angles, a
thin smear of petroleum jelly is applied to the rim and this end is applied to the FB. Suction is
applied either orally or by a pump. Gentle pump suction is preferred but it is advisable to pinch
closed the suction catheter until close to the FB as the hissing noise may frighten the child.
Insects in the ear
Live insects should be immobilised by first instilling drops of vinegar, methylated spirits or olive
oil, and then syringing the ear with warm water.
Dead flies that have originally been attracted to pus are best removed by suction or gentle
syringing.
Note: If simple methods such as syringing fail to dislodge the FB, it is important to refer for
examination and removal under microscopic vision. Syringing should not be performed if there
is a possibility of the FB perforating the TM.
Otitis media in children
Otitis media is very common in children and is the most common reason a child is brought in for
medical attention. Persistent middle-ear effusions may follow and affect the language and
cognitive development of young children. An abrupt onset is a feature.
Clinical features
It is a clinical diagnosis
Two peaks of incidence: 9–15 months of age, and school entry
Seasonal incidence coincides with URTIs
Bacteria cause two-thirds of cases5
The commonest organisms are Streptococcus pneumoniae, Haemophilus influenzae and
Moraxella catarrhalis
Fever, irritability, otalgia and otorrhoea may be present
The main symptoms in older children are increasing earache and hearing loss
Pulling at the ears is a common sign in infants
Removal of wax may be necessary to visualise the TM (about 30% have occluded views),
although with the decreasing role of antibiotics this visualisation becomes less crucial
Visualisation of the tympanic membrane
Use the largest ear speculum that will comfortably fit in the child’s ear. A good technique to
enable the examination of the ears (also nose and throat) in a reluctant child is where the child is
held against the parent’s chest while the parent’s arm embraces the child’s arm and trunk. Use of
the pneumatic otoscope may reveal absent or limited movement.
Note the following features of the TM: translucency, colour, position and motility.
Treatment
Provide adequate pain relief with paracetamol or a NSAID. Short-term use of topical 2%
lignocaine drops is effective for severe cases.
Many children with viral URTIs have mild reddening or dullness of the eardrum and antibiotics
are not warranted, particularly in the absence of systemic features (fever and vomiting).5 Best
practice in healthy, non-Indigenous children over 6 months of age is shared decision making
with parents about symptomatic relief with analgesics and watchful waiting.6
The role of antibiotics in acute otitis media has diminished in response to emerging evidence
from large double-blinded RCTs. The number needed to treat (NNT) with an antibiotic to
prevent pain in one child at day 2–3 is 20, and no reduction in pain is found compared to placebo
at day 1 or day 7.6,7 Page 473
The antibiotic of choice for children who fit into those categories is a 5-day course of:5
amoxicillin 15 mg/kg 8 or 12 hourly up to 500 mg (o)
or
amoxicillin 30 mg/kg 12 hourly (o)
If β-lactamase-producing bacteria are suspected or documented, or initial treatment fails, use:
amoxicillin/clavulanate 22.5+3.2 mg/kg 12 hourly
Possible clinical indications for antibiotics in children with
painful otitis media5,6
Consider immediate and aggressive treatment:
infants <6 months
children <2 years with bilateral OM
acute OM in the only hearing ear
risk of complications in vulnerable groups, e.g. Aboriginal and Torres Strait Islander
children, immunocompromised, cochlear implant (usually IV antibiotics)
Other considerations:
neurological symptoms, e.g. facial palsy, vertigo
 sick child (fever and other systemic features) days.

persistent fever and pain after 48–72 hours’ conservative approach Rare complications. These include labyrinthitis, petrositis, facial paresis and intracranial
abscess. Page 474

For children with penicillin allergy, use:
trimethoprim/sulfamethoxazole 4+20 mg/kg 12 hourly
or
cefuroxime 15 mg/kg 12 hourly
With appropriate treatment most children with acute otitis media are significantly improved
within 48 hours. Parents should be encouraged to contact their doctor if no improvement occurs
within 72 hours. This problem is usually due to a resistant organism or suppuration. With a view
to hospital admission, the patient should be re-evaluated at 10 days.8
Glue ear (serous otitis media)
This represents incomplete resolution of suppurative otitis media. Signs include loss of drum
mobility, hearing loss and abnormal impedance confirmed by pneumatic otoscopy or
tympanometry. Most resolve spontaneously but a Cochrane review7 found that resolution at 2–3
months was more likely if oral antibiotics were used (NNT=5, NNH [harms of side effects]=20).
Consider recommending the safer and cheaper option of autoinflation, using Otovent-assisted
nasal inflation.10 There is no evidence to support the use of nasal steroid sprays,11 antihistamines
or decongestants.12

Antibiotic drops

A randomised trial has found that antibiotic eardrops are superior to oral antibiotics for the
treatment of acute otorrhoea in babies with grommets.9 This method has advocates among
specialists who recommend ciprofloxacin drops following aural toilet.

Symptomatic treatment

Rest the child in a warm room with adequate humidity. Use analgesics such as paracetamol or
ibuprofen in high dosage. Local anaesthetic ear drops are a reasonable option.

Follow-up: at review, check that the otitis media symptoms and signs have resolved, and perform
an office-based hearing screen. If there are doubts about hearing, or a middle-ear effusion
persists, refer for audiological screening.

Complications5,6
Middle-ear effusion. 70% of children will have an effusion present 2 weeks from the time of
diagnosis, 40% at 4 weeks, with 10% having persistent effusions for 3 months or more. If the
effusion is still present at 6–8 weeks, a course of antibiotics should be prescribed.2 If the
effusion persists beyond 3 months, refer for an ENT opinion or earlier if an associated speech
delay or educational difficulty (especially a 20 dB hearing loss).

Acute mastoiditis. This is a rare, major complication that presents with pain, swelling and
tenderness developing behind the ear associated with a general deterioration in the condition
of the child (see FIG. 39.7 ). Such a complication requires immediate referral.
FIGURE 39.7 Mastoiditis in a child with recurrent otitis media showing
Chronic suppurative otitis media. Discharge through a perforation of the TM >6 weeks. erythema and swelling behind the ear. Surgical drainage was performed.
Consider ciprofloxacin 0.3% ear drops, 5 drops 12 hourly until discharge free for at least 3
If an effusion lasts for >3 months, arrange for a hearing assessment and consider referral to an Acute otitis media
ENT surgeon for possible tympanostomy tubes (grommets).
Acute otitis media causes deep-seated ear pain, deafness and often systemic illness (see
However, bear in mind that the evidence of benefit for grommets is also modest—a minor FIG. 39.8 ). The sequence of symptoms is a blocked ear feeling, pain and fever. Discharge may
improvement in hearing (around 10 dB) at 3–6 months that subsequently disappears as natural
follow if the TM perforates, with relief of pain and fever.
resolution catches up. Grommets have not been demonstrated to benefit speech, language or
behaviour.13

A positive outcome from arranging hearing assessment may be altering classroom seating
position and the use of sound amplifiers; these are frequently used in remote area Aboriginal and
Torres Strait Islander schools, where rates of glue ear are very high.

Recurrent acute bacterial otitis media

Antibiotic prevention of acute otitis media is indicated (arguably) if it occurs more often than
every other month or for three or more episodes in 6 months or >4 in 12 months.14 Treat as for
acute otitis media.

Consider:

chemoprophylaxis (for about 4 months)

amoxicillin twice daily (first choice)

FIGURE 39.8 Acute otitis media causing true otalgia. The ear drum bulges
or laterally due to pus in the middle ear. Perforation and otorrhoea imminent.

cefaclor twice daily The commonest organisms are viruses (adenovirus and enterovirus), and the bacteria H.
influenzae, S. pneumoniae, Moraxella catarrhalis and β-haemolytic streptococci.
Consider Pneumococcus vaccine in children over 18 months of age (if not already given) in
combination with the antibiotic. Avoid smoke exposure (cigarettes and wood fires) and group The two cardinal features of diagnosis are inflammation and middle-ear effusion.
child care.
Appearance of the tympanic membrane (all ages)
Consider review by ENT consultant.
Translucency. If the middle-ear structures are clearly visible through the drum, otitis media is
Viral infections unlikely.

Most children with viral URTIs have mild–moderate reddening or dullness of the eardrum and
antibiotics are not warranted. If painful bullous otitis media is present, either prick the bulla with
a sterile needle for pain relief or instil dehydrating eardrops such as anhydrous glycerol.
Ear pain in adults and the elderly
Causes of otalgia that mainly afflict the elderly include herpes zoster (Ramsay–Hunt syndrome),
TMJ arthralgia, temporal arteritis and neoplasia. It is especially important to search for evidence
of malignancy.
Colour. The normal TM is a shiny pale-grey to brown: a yellow colour is suggestive of an
effusion.
Diagnosis
The main diagnostic feature is the redness of the TM. The inflammatory process usually begins
in the upper posterior quadrant and spreads peripherally and down the handle of the malleus (see
FIG. 39.9 ). The TM will be seen to be reddened and inflamed with engorgement of the vessels,
particularly along the handle of the malleus. The loss of light reflex follows and anatomical
features then become difficult to recognise as the TM becomes oedematous. Bulging of the drum
is a late sign. Blisters are occasionally seen on the TM and this is thought to be due to a viral
infection in the epidermal layers of the drum. Page 475
 FIGURE 39.9 The appearances of the left tympanic membrane in the discharge without pain. The discharge occurs through a perforation in the TM: one is safe (see
FIG. 39.10A ), the other unsafe (see FIG. 39.10B ).
progressive development of acute otitis media

Treatment of acute otitis media (adults)

Analgesics to relieve pain

Adequate rest in a warm room

Antibiotics for 5 days, repeated if necessary

Treat associated conditions (e.g. adenoid hypertrophy)

Follow-up: review and test hearing audiometrically

Antibiotic treatment5

First choice:

amoxicillin 750 mg (o) bd for 5 days5

or

500 mg (o) tds for 5 days

A longer course (up to 10 days) may be required depending on severity and response to 5-day
course.

Alternatives:

doxycycline 100 mg (o) bd for 5–7 days (daily for milder infections)

or

cefaclor 250 mg (o) tds for 5–7 days

or

(if resistance to amoxicillin is suspected or proven) amoxicillin/potassium clavulanate

500/125 mg (o) tds for 5 days (the most effective antibiotic)
FIGURE 39.10 (a) Chronic otitis media with loss of the tympanic membrane;
Consider surgical intervention for failed therapy. this is ‘safe ear’, (b) unsafe ear: chronic otitis media with attic cholesteatoma

Page 476

Chronic otitis media Chronic discharging otitis media (safe)5,15

There are two types of chronic suppurative otitis media and they both present with deafness and If aural discharge persists for >6 weeks after a course of antibiotics, treatment can be with topical
steroid and antibiotic combination drops, following ear toilet. The toileting can be done at home Chronic suppurative otitis media
by dry mopping with a rolled tissue spear. If persistent, referral to exclude cholesteatoma or Furuncle (boil) of ear canal
chronic osteitis is advisable.
Infected otitis externa
Reactive skin conditions (e.g. eczema)
Recognising the unsafe ear Liquefied wax
Examination of an infected ear should include inspection of the attic region, the small area of Serious disorders not to be missed
drum between the lateral process of the malleus, and the roof of the external auditory canal
immediately above it. A perforation here renders the ear ‘unsafe’ (see FIG. 39.1 ); other Infections:
perforations, not involving the drum margin (see FIG. 39.2 ), are regarded as ‘safe’.15 Pseudomonas pyocyanea
cholesteatoma
Cholesteatoma16 herpes zoster oticus
mastoiditis
Refer CHAPTER 33 . Cancer:
The status of a perforation depends on the presence of accumulated squamous epithelium malignancy with discharge (e.g. SCC)
(termed cholesteatoma) in the middle ear because this erodes bone. An attic perforation contains Other:
such material; safe perforations do not. cerebrospinal fluid otorrhoea (fractured temporal bone)
necrotising otitis media
Red flags for cholesteatoma include meningitis-type features, cranial nerve deficits,
sensorineural hearing loss and persistent deep ear pain. Pitfalls (often missed)
Cholesteatoma is visible through the hole as white flakes, unless it is obscured by discharge or a Foreign body with infection/liquidisation (e.g. insects)
persistent overlying scab (or wax). Either type of perforation can lead to chronic infective Trauma ± blood
discharge, the nature of which varies with its origin. Mucus admixture is recognised by its stretch Rarities:
and recoil when this discharge is being cleaned from the external auditory canal. The types of keratitis obliterans
discharge are compared in TABLE 39.3 .
branchial or salivary fistula
Wegener granulomatosis
Table 39.3 Comparison of types of discharge
Is the patient trying to tell me something?

Unsafe Safe Factitious

?Excessive manipulation of ear canal
Source Cholesteatoma Mucosa
Odour Foul Inoffensive Diagnostic tip
Amount Usually scant, never profuse Can be profuse Acute ear discharge is most likely due to otitis externa or perforated ear
drum with otitis media
Nature Purulent Mucopurulent

Page 477
Management
Table 39.4 Ear discharge: diagnostic strategy model If an attic perforation is recognised or suspected, specialist referral is essential. Cholesteatoma
cannot be eradicated by medical means: surgical removal is necessary to prevent a serious
Probability diagnosis infratemporal or intracranial complication. Adjunct suction with care may be necessary to
decompress the mass.
Acute otitis media with perforation
Diagnostic strategy for ear discharge (otorrhoea) mass Aspergillus sp.

Clinical features
Otitis externa15
Itching at first
Otitis externa (see FIG. 39.11 ), also known as ‘swimmer’s ear’, ‘surfer’s ear’ and ‘tropical ear’,
is common in a country whose climate and coastal living leads to extensive water sports. It is Otalgia/pain (mild to intense) in 70%
more prevalent in hot humid conditions and therefore in the tropics.
Fullness in ear canal

Scant discharge

Hearing loss

Signs
Oedema (mild to extensive)

Tenderness on moving auricle or jaw

Erythema

Discharge (offensive if coliform)

Pale cream ‘wet blotting paper’ debris—C. albicans (see FIG. 39.12 )
FIGURE 39.11 Otitis externa
Black spores of Aspergillus nigra
Predisposing factors are allergic skin conditions, ear canal trauma, water penetration (swimming,
humidity, showering), water and debris retention (wax, dermatitis, exostoses), foreign bodies, TM granular or dull red
contamination from swimming water including spas, and use of Q tips and hearing aids.

Common responsible organisms

Bacteria:

Pseudomonas sp.

Escherichia coli

S. aureus

Proteus sp.

Klebsiella sp.

Fungi:

Candida albicans
 FIGURE 39.12 Acute otitis externa showing purulent discharge and narrowing Prevent scratching and entry of water
of the ear canal
Use a wick soaked in combination steroid and antibiotic ointment for more severe cases
Obtain culture, especially if resistant Pseudomonas sp. suspected, by using small ear swab.
Follow up ENT opinion for ‘red flags’
Note: ‘Malignant’ otitis externa occurs in diabetics due to Pseudomonas infection at base of
skull. Dressings

Dressings are recommended in moderate and severe otitis media. After cleaning and drying,
Management insert a cotton ear wick (an alternative is 10–20 cm of 4 mm Nufold gauze—see FIG. 39.13 )
impregnated with a steroid and antibiotic cream.
Aural toilet
For severe oedematous otitis externa, a wick (e.g. Pope ear wick) is important and will reduce the
Meticulous aural toilet by gentle suction and dry mopping with a wisp of cotton wool on a fine oedema and pain in 12–24 hours (see FIG. 39.13 ). The wick can be soaked in an astringent (e.g.
brooch under good lighting is the keystone of management. This enables topical medication to be aluminium acetate 4% solution or glycerin and 10% ichthammol). The wick needs replacement
applied directly to the skin. Page 478 daily until the swelling has subsided.

Syringing

This is appropriate in some cases but the canal must be dried meticulously afterwards. For most
cases it is not recommended.

Topical antimicrobials for acute diffuse otitis externa5,17

Most effective, especially when the canal is open, is an antibacterial, antifungal and
corticosteroid preparation, e.g.:

Kenacomb, Otodex or Sofradex drops (2–3 drops tds)

FIGURE 39.13 Insertion of a wick; it is packed gradually by short back-and-
or forth movements of the forceps
Source: Courtesy of Bruce Black
Locacorten-Vioform drops (2–3 drops bd)

or Practice tip for severe ‘tropical ear’

Ciproxin HC (3 drops bd)
Prednisolone (o) 15 mg statim then 10 mg 8-hourly for six doses followed by:
Use all for 7 days. Be cautious of ear drops with neomycin (hypersensitivity). The tragus should
be pumped for 30 seconds after instillation by pressing on it repeatedly, within the limitation of Merocel ear wick
any pain.
topical Kenacomb or Sofradex drops
Other measures15

Strong analgesics are essential Prevention

Antibiotics have a minimal place in treatment unless a spreading cellulitis has developed (refer Keep the ear dry, especially those involved in water sports
if in doubt)
Protect the ear with various waterproofing methods:
 cotton wool coated with petroleum jelly

an antiseptic drying agent (e.g. ethanol) after swimming and showering

tailor-made ear plugs (e.g. EAR foam plugs)

silicone putty or Blu-Tack

a bathing cap pulled well forward allows these plugs to stay in situ

Avoid poking objects such as hairpins and cotton buds in the ear to clean the canal

If water enters, shake it out or use Aquaear drops (acetic acid/isopropyl alcohol), 4–5 drops to
help dry the canal Page 479

Necrotising otitis externa

This severe complication, usually due to Pseudomonas aeruginosa, can occur in the person who
is elderly, immunocompromised or has diabetes. It involves cartilage and bone, and should be FIGURE 39.14 Furuncle (boil) in hair-bearing area at opening of the ear canal
considered where there is treatment failure, severe persistent pain or fever and visible granulation
tissue. Urgent referral is advisable.
Management
Ear exostoses (‘surfer’s ear’) If pointing, it can be incised after a local anaesthetic or freezing spray

These periosteal bony overgrowths are usually caused by water retention in the ear. They are Warmth (e.g. use hot washcloth, hot-water bottle)
often multiple. They tend to trap keratin, wax and water, leading to infection.
If fever with cellulitis—flu/dicloxacillin or cephalexin
Prevention
Perichondritis
Use plugs or Blu-Tack to waterproof ear.
Perichondritis is infection of the cartilage of the ear characterised by severe pain of the pinna,
Dry thoroughly with hair dryer after swimming. which is red, swollen and exquisitely tender. It is rare and follows trauma or surgery to the ear.
As the organism is frequently P. pyocyaneus, the appropriate antibiotics must be carefully
They may require surgical removal.
chosen (e.g. ciprofloxacin).

Acute localised otitis externa (furunculosis) Infected ear lobe

Furunculosis is a staphylococcal infection of the hair follicle in the outer cartilaginous part of the
In a pierced ear, the cause is most likely a contact allergy to nickel in an earring, complicated by
ear canal. It is usually intensely painful. Fever occurs only when the infection spreads in front of
a S. aureus infection.
the ear as cellulitis. The pinna is tender on movement—a sign that is not a feature of acute otitis
media. The furuncle (boil) may be seen in the external auditory meatus (see FIG. 39.14 ).
Management
Discard the earrings

Clean the site to eliminate residual traces of nickel

 Swab the site and then commence antibiotics (e.g. flucloxacillin or erythromycin)
Instruct the person to clean the site daily, and then apply the appropriate ointment
Use a ‘noble metal’ stud to keep the tract patent
Advise the use of only gold, silver or platinum studs in future
Eustachian tube dysfunction
This is a common cause of discomfort.17 Symptoms include fullness in the ear, pain of various
levels and impairment of hearing. The most common causes of dysfunction are disorders causing
oedema of the tubal lining, such as viral URTI and allergy when the tube is only partially
blocked; swallowing and yawning may elicit a crackling or popping sound. Examination reveals
retraction of the TM and decreased mobility on pneumatic otoscopy. The problem is usually
transient after a viral URTI.
Treatment
Systemic and intranasal decongestants (e.g. pseudoephedrine or corticosteroids in allergic
patients)
Autoinflation by forced exhalation against closed nostrils (avoid in active intranasal infection)
Avoid air travel, rapid altitude change and underwater diving
Otic barotrauma
Barotrauma is damage caused by undergoing rapid changes in atmospheric pressure in the
presence of an occluded Eustachian tube (see FIG. 39.15 ). It affects scuba divers and aircraft
travellers. Page 480
FIGURE 39.15 Mechanism of barotrauma, with blocking of the Eustachian
tube due to increased pressure at the sites indicated
Source: Courtesy of Bruce Black
The symptoms include temporary or persistent pain or pressure in both ears, deafness, vertigo,
tinnitus and perhaps discharge.
Inspection of the TM may reveal (in order of seriousness): retraction; erythema; haemorrhage
(due to extravasation of blood into the layers of the TM); fluid or blood in the middle ear;
perforation. Perform conductive hearing loss tests with tuning fork.
Treatment
Most cases are mild and resolve spontaneously in a few days, so treat with analgesics and
reassurance. Menthol inhalations are soothing and effective. Refer if any persistent problems for
consideration of the Politzer bag inflation or myringotomy.
Prevention
Flying. Perform repeated Valsalva manoeuvres during descent. Use decongestant drops or sprays
before boarding the aircraft, and then 2 hours before descent.
Diving. Those with nasal problems, otitis media or chronic tubal dysfunction should not dive.
Penetrating injury to tympanic membrane
A penetrating injury to the TM can occur in children and adults from various causes such as
pencils and slivers of wood or glass. Bleeding invariably follows and infection is the danger.
Management
Remove blood clot by suction toilet or gentle dry mopping
Ensure no FB is present
Check hearing
Prescribe a course of broad-spectrum antibiotics (e.g. cotrimoxazole)
Prescribe analgesics
Instruct the person not to let water enter ear
Review in 2 days and then regularly
At review in 1 month, the drum should be virtually healed
Check hearing 2 months after injury
Complete healing can be expected within 8 weeks in 90–95% of such cases.18
Temporomandibular joint arthralgia
If rheumatoid arthritis is excluded, a set of special exercises, which may include ‘chewing’ a
piece of soft wood over the molars, invariably solves this problem (see CHAPTER 41 ). If an
obvious dental malocclusion is present, referral is necessary.
When to refer
Otitis media
Incomplete resolution of acute otitis media
Persistent middle-ear effusion for 3 months after an attack of acute otitis media
Persistent apparent or proved deafness
Evidence or suspicion of acute mastoiditis or other severe complications
Frequent recurrences (e.g. four attacks a year)
Presence of craniofacial abnormalities
Other ear problems
Attic perforation/cholesteatoma
FBs in ear not removed by simple measures such as syringing
No response to treatment after 2 weeks for otitis externa
Suspicion of carcinoma of the ear canal
Acute TM perforation that has not healed in 6 weeks
Chronic TM perforation (involving lower two-thirds of TM)
Practice tips
The pain of acute otitis media may be masked by fever in babies and young
children.
A red TM is not always caused by otitis media. The blood vessels of the drum
head may be engorged from crying, sneezing or nose blowing. In crying babies,
the TM as well as the face may be red.
In otitis externa, most cases will resolve rapidly if the ear canal is expanded and
then cleaned meticulously.
If an adult presents with ear pain but normal auroscopy, examine possible referral
sites, namely TMJ, mouth, throat, teeth and cervical spine.
Consider mastoiditis if foul-smelling discharge is present over 7+ days.
Antibiotics have no place in the treatment of otic barotrauma.
It is good practice to make relief of distressing ear pain a priority. Adequate
analgesics must be given. There is a tendency to give too low a dose of
paracetamol in children. The installation of nasal drops in infants with a snuffy
nose and acute otitis media can indirectly provide amazing pain relief.
Spirit ear drops APF are a cheap and simple agent to use for recurrent otitis
externa where wetness of the ear canal is a persistent problem.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Earache in children
Ear infection (otitis media)
Ear: otitis externa
Ear: wax in your ear
Resources
National Health and Medical Research Council (NHMRC). Australian Clinical Practice
Page 481
Guidelines: Available from: https://www.clinicalguidelines.gov.au.
National Institute for Health and Care Excellence (NICE). Respiratory tract infection: Antibiotic
prescribing. London: NICE, 2008. Available from:
https://www.nice.org.uk/guidance/cg69/evidence/full-guideline-196853293.
The Royal Children’s Hospital Melbourne. Australian clinical practice guidelines for managing
acute otitis media. Melbourne: RCH, last updated April 2018. Available from:
https://www.rch.org.au/clinicalguide/guideline_index/Acute_otitis_media/.
 17 Wall GM et al. Ciprofloxacin 0.3% dexamethasone 0.1% sterile otic suspension for topical
References treatment ear infections: a review of the literature. Pediatr Infect Dis J, 2009; 28(2): 141–4.

1 Black B. Otalgia. Aust Fam Physician, 1987; 16: 292–6. 18 Kruger R, Black B. Penetrating injury eardrum. Aust Fam Physician, 1986; 15: 735.

2 Lieberthal AS et al. The diagnosis and management of acute otitis media. Pediatrics, 2013;
131(3): e964–99.

3 Ludman H. ABC of Otolaryngology (3rd edn). London: BMJ, 1993.

4 Murtagh J, Coleman J. Practice Tips (8th edn). Sydney: McGraw-Hill, 2019: 126–30.

5 Ear, nose and throat infections [published 2019]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed October
2020.

6 Morris PS, Leach AJ. Managing otitis media: an evidence-based approach. Australian
Prescriber, 2009; 32(6): 155–9.

7 Venekamp RP et al. Antibiotics for acute otitis media in children. Cochrane Database Syst
Rev, 2015 Jun 23; (6): CD000219.

8 Gunasekera H. Otitis media in children: how to treat. Australian Doctor, 18 July 2008: 33–
40.

9 Van Dongen TM et al. Treatment of otitis media in children under 2 years of age. N Eng J
Med, 2014; 370: 723–33.

10 Perera R et al. Autoinflation for hearing loss associated with otitis media with effusion.
Cochrane Database of Syst Rev, 2013; Issue 5: CD006285.

11 Simpson SA et al. Oral or topical nasal steroids for hearing loss associated with otitis
media with effusion in children. Cochrane Database of Syst Rev, 2011; Issue 5:
CD001935.

12 Griffin G, Flynn CA. Antihistamines and/or decongestants for otitis media with effusion
(OME) in children. Cochrane Database of Syst Rev, 2011; Issue 9: CD003423.

13 Browning GG et al. Grommets (ventilation tubes) for hearing loss associated with otitis
media with effusion in children. Cochrane Database of Syst Rev, 2010; Issue 10: Art. No.
CD001801.

14 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines

Handbook Pty Ltd, 2013: 386–7.

15 Kaushik V, Malik T, Saeed SR. Intervention for acute otitis externa (Cochrane Review).
Cochrane Database. Syst Rev, 2010; Issue 1: Art No. CD004740.

16 Black B. Otitis media: how to treat. Australian Doctor, 29 November 2002: I–VIII.
 Herpes zoster ophthalmicus
Page 482 Penetrating injury
Endophthalmitis
Orbital cellulitis
Trachoma
Pitfalls (often missed)
40 The red and tender eye Scleritis/episcleritis
Foreign body
Trauma—contusion, penetrating injury
Ultraviolet light ‘keratitis’
Blepharitis
Those with sore eyes … find the light painful, while the darkness, which permits them to see Cavernous sinus arteriovenous fistula
nothing, is restful and agreeable. Seven masquerades checklist
Drugs (hypersensitivity)
DIO CHRYSOSTOM (40–115 CE) Thyroid disorder (hyperthyroidism)
A red eye accounts for at least 80% of eye problems encountered in general practice.1 An Is the patient trying to tell me something?
accurate history combined with a thorough examination will permit the diagnosis to be made in Unlikely.
most cases without recourse to specialist ophthalmic equipment. A summary of the diagnostic
strategy model is presented in TABLE 40.1 .

Table 40.1
Key facts and checkpoints
The red and tender eye: diagnostic
strategy model
Acute conjunctivitis accounts for over 25% of all eye complaints seen in general
practice.2
Probability diagnosis
Conjunctivitis: Viral conjunctivitis (compared to bacterial) is more common in adults, is usually
bacterial bilateral and discharge is more watery than purulent.3
adenovirus Viral conjunctivitis can be slow to resolve and may last for weeks.
allergic
Irritants: Pain and visual loss suggest a serious condition such as glaucoma, uveitis
(including acute iritis) or corneal ulceration.
stye
pterygium/pinguecula Beware of the unilateral red eye—think beyond bacterial or allergic conjunctivitis. It
Serious disorders not to be missed is rarely conjunctivitis and may be a corneal ulcer, keratitis, foreign body, trauma,
uveitis or acute glaucoma.4
Acute glaucoma
Uveitis: Keratitis (inflammation of the cornea) is one of the most common causes of an
acute iritis uncomfortable red eye. Apart from the well-known viral causes (herpes simplex,
choroiditis herpes zoster, adenovirus and measles), it can be caused by fungal infection
Corneal ulcer (usually on a damaged cornea), bacterial infection, protozoal infection or
Herpes simplex keratitis inflammatory disorder such as ankylosing spondylitis.5
Microbial keratitis (e.g. fungal, amoebic, bacterial)
Herpes simplex keratitis (dendritic ulcer) often presents painlessly, as the
 neurotrophic effect grossly diminishes sensation. irritation

pain (with pus or watering)

The clinical approach loss of vision (red or white eye)

red = front of eye

The five essentials of the history are:
white = back of eye
history of trauma (including wood/metalwork—foreign body)

vision Key questions

the degree and type of discomfort Have you noticed blurring of your vision?

presence of discharge Have you been in close contact with others with the same condition?

presence of photophobia Page 483 Have you had a cold or running nose recently?

The social and occupational history is also very important. This includes a history of exposure to Do you wear contact lenses?
a ‘red eye’ at school, work or home; incidents at work such as injury, welding, foreign bodies or
chemicals; and genitourinary symptoms. Can you recall scratching or injuring your eye?

When examining the unilateral red eye, keep the following diagnoses in mind: What were you doing at the time you noticed trouble?

trauma Have you been putting any drops, ointments or cosmetics in or around your eye?

foreign body, including intra-ocular (IOFB) Do you suffer from hay fever?

corneal ulcer Do you have any problems with your eyelids?

iritis (uveitis) Had your eyes been watering for some time beforehand?

viral conjunctivitis (commonest type) Have you had any other problems?

acute glaucoma Have you been exposed to arc welding?

The manner of onset of the irritation often gives an indication of the cause. Conjunctivitis or Loss of vision in the red eye
uveitis generally has a gradual onset of redness, while a small foreign body will produce a very
rapid hyperaemia. Photophobia occurs usually with uveitis and keratitis. It is vital to elicit careful Consider:
information about visual acuity. The wearing of contact lenses is important as these are prone to
cause infection or the ‘overwear syndrome’, which resembles an acute ultraviolet (UV) burn. iritis (uveitis)

scleritis
The key eye symptoms
acute glaucoma (pain; nausea and vomiting)
The key eye symptoms are:
chemical burns
itch
 Pain with photophobia:
Red eye red flags (urgent ophthalmic referral) 6,7
uveitis

Severe ocular pain episcleritis

Severe orbital pain
Examination
Reduction ophthalmic or loss of vision
The basic equipment:
Diplopia
eye testing charts at 45 cm (18 in) and 300 cm (10 ft)
Dilated pupil
multiple pinholes
Abnormal corneal signs
torch (and Cobalt blue or ultraviolet light)
Globe displacement
magnifying aid (e.g. binocular loupe)
Endophthalmitis
glass rod or cotton bud to aid eyelid eversion
Microbial keratitis ± contact lens use
fluorescein sterile paper strips

anaesthetic drops
The painful red eye
ophthalmoscope
Causes to consider:
Ishihara colour vision test
foreign body
tonometer (if available, e.g. Schiotz)
keratitis
The four essentials of the examination are:
uveitis (iritis)
testing and recording vision
episcleritis
meticulous inspection under magnification Page 484
scleritis
testing the pupils
acute glaucoma
testing ocular tension4
hypopyon (pus in the anterior chamber)
Also:
endophthalmitis (inflammation of internal structures—may follow surgery)
local anaesthetic test
corneal abrasion/ulceration
fluorescein staining
Pain with discharge:
subtarsal examination
keratitis
Inspection
A thorough inspection is essential, noting the nature of the inflammatory injection, whether it is
localised (episcleritis) or diffuse, viewing the iris for any irregularity, observing the cornea, and
searching for foreign bodies, especially under the eyelids, and for any evidence of penetrating
injury. No ocular examination is complete until the upper eyelid is everted and closely inspected.
Both eyes must be examined since many patients presenting with conjunctivitis in one eye will
have early signs of conjunctivitis in the other. Use fluorescein to help identify corneal ulceration.
Local anaesthetic drops instilled prior to the examination of a painful lesion are recommended.
The local anaesthetic test is a sensitive measure of a surface problem—if the pain is unrelieved a
deeper problem must be suspected.
Palpate for enlarged pre-auricular lymph nodes, which are characteristic of viral conjunctivitis.
The nature of the injection is important. In conjunctivitis the vessels are clearly delineated and
branch from the corners of the eye towards the cornea, since it involves mainly the tarsal plate.
Episcleral and scleral vessels are larger than conjunctival vessels and are concentrated towards
the cornea (see FIG. 40.1 ).
FIGURE 40.1 Physical signs to search for in a patient with a red eye (eyelids
everted)
Ciliary injection appears as a red ring around the limbus of the cornea (the ciliary flush), and the
individual vessels, which form a parallel arrangement, are not clearly visible. Ciliary injection
may indicate a more serious deep-seated inflammatory condition such as anterior uveitis or a
deep corneal infection. The presence of fine follicles on the tarsal conjunctivae indicates viral
infection while a cobblestone appearance indicates allergic conjunctivitis.
Note: Slit lamp examination is ideal for the examination of the eye.
Investigations
These include:
swab of discharge for micro and culture or for viral studies
ESR/CRP
imaging
Red eye in children
Children can suffer from the various types of conjunctivitis (commonly), uveitis and trauma. Of
particular concern is orbital cellulitis, which may present as a unilateral swollen lid and can
rapidly lead to blindness if untreated. Bacterial, viral and allergic conjunctivitis are common in
all children. Conjunctivitis in infants is a serious disorder because of the immaturity of tissues
and defence mechanisms. Serious corneal damage and blindness can result.
Neonatal conjunctivitis (ophthalmia neonatorum)
This is conjunctivitis in an infant less than 1 month old and is a notifiable disease. Chlamydial
and gonococcal infections are uncommon but must be considered if a purulent discharge is found
in the first few days of life.3 In both conditions the parents must be investigated for associated
venereal infection and treated accordingly (this includes contact tracing) (see CHAPTER 109 ).
Chlamydia trachomatis accounts for 50% or more of cases. Its presentation in neonates is acute,
usually 1–2 weeks after delivery, with moderate mucopurulent discharge. It is a systemic disease
and may be associated with pneumonia. The diagnosis is confirmed by PCR tests on the
conjunctival secretions.
Treatment is with azithromycin 20 mg/kg orally, daily for 3 days. Regular face washing and the
treatment of all household contacts is recommended.3
Neisseria gonorrhoeae conjunctivitis, which usually occurs within 1–2 days of delivery, requires
vigorous treatment with intravenous cephalosporins or penicillin and local sulfacetamide drops.
The discharge is highly infectious and the organism has the potential for severe corneal infection
with perforation and blindness7 or septicaemia.3 Page 485
Other common bacterial organisms can cause neonatal conjunctivitis, and herpes simplex virus
type II can cause conjunctivitis and/or eyelid vesicles or keratitis.2
Trachoma
More than 6 million people worldwide have trachoma-caused blindness.
Trachoma is a chronic chlamydial conjunctivitis that is prevalent in the Aboriginal and Torres
Strait Islander population, particularly in dry, remote regions. C. trachomatis is usually
transmitted by human contact between children and parents and also by flies, especially where
hygiene is inadequate. It is the most common cause of blindness in the world. Recurrent and
untreated disease leads to lid scarring and inturned lashes (entropion) with corneal ulceration and
 Major causes of a red eye
visual loss. It is important to commence control of the infection in childhood. Table 40.2

Treatment Site of Pain Discharge Vision Photo-

inflammation phobia
Prevention/community education Bacterial Conjunctiva, Irritation Purulent, Normal No
conjunctivitis including —gritty lids stuck
Antibiotics—azithromycin lining of lids in the
(usually morning
Surgical correction (where relevant)
bilateral)

Blocked nasolacrimal duct Viral conjunctivitis Conjunctiva, Gritty Watery Normal No

lining of lids
Delayed development of the nasolacrimal duct occurs in about 6% of infants,3 resulting in often follicular
blocked lacrimal drainage; the lacrimal sac becomes infected, causing a persistent discharge from (uni or
bilateral)
one or both eyes. In the majority of infants, spontaneous resolution of the problem occurs by the
age of 6 months. Allergic (vernal) Conjunctiva, Gritty— Watery Normal No
conjunctivitis papillary itching
Management swellings on
lid linings
Bathing with normal saline (bilateral)
Contact Conjunctiva Itching Watery Normal No
Frequent massage over the lacrimal sac
hypersensitivity and eyelids —may
Referral for probing of the lacrimal passage before 6 months if the discharge is profuse and (dermato- Oedema be
irritating or between 6 and 12 months if the problem has not self-corrected (refer conjunctivitis) blurred
CHAPTER 84 ) Subconjunctival Beefy red No No Normal No
haemorrhage area fading at
Reserve topical antibiotics for true secondary infection (uncommon) edge
(unilateral)
Red eye in the elderly Herpes simplex Unilateral— Yes— No, reflex Blurred, Yes
keratitis circumcorneal gritty lacrimation but
Elderly people have an increased risk of acute glaucoma, uveitis and herpes zoster. Acute angle Dendritic variable,
closure glaucoma should be considered in anyone over the age of 50 presenting with an acutely ulcer depends
painful red eye. on site
Corneal ulcer Unilateral— Yes No, reflex Blurred, Yes
Eyelid conditions such as blepharitis, trichiasis, entropion and ectropion are more common in the circumcorneal lacrimation but
elderly. (exclude variable,
foreign body) depends
Acute conjunctivitis on site
Scleritis/episcleritis Localised Yes No Normal Yes
Acute conjunctivitis is defined as an episode of conjunctival inflammation lasting less than 3 deep redness
weeks.2 The two major causes are infection (either bacterial or viral) and acute allergic or toxic Tender area
reactions of the conjunctiva (see TABLE 40.2 ). Acute uveitis/iritis Maximum Yes— No, reflex Blurred Yes
around radiates lacrimation
cornea to brow,
Major causes of a red eye
 temple, Examination
nose
There is usually a bilateral mucopurulent discharge with uniform engorgement of all the
Acute glaucoma Diffuse but Yes, No, reflex Haloes Yes
conjunctival blood vessels and a non-specific papillary response (see FIG. 40.2 ). Fluorescein
maximum severe lacrimation around
staining is negative.
circumcorneal with lights
nausea
and
vomiting

Practice tip
Be cautious of loss of vision, pain or photophobia—refer if appropriate.

Page 486

Clinical features FIGURE 40.2 Acute bacterial conjunctivitis with mucopurulent discharge, no
corneal stain
Diffuse hyperaemia of tarsal or bulbar conjunctivae

Absence of ocular pain, good vision, clear cornea Causative organisms

Infectious conjunctivitis is usually bilateral (especially after the first day) with a discharge, These include:
and a gritty or sandy sensation
Streptococcus pneumoniae

Bacterial conjunctivitis Haemophilus influenzae

Bacterial infection may be primary, secondary to a viral infection or secondary to blepharitis. Staphylococcus aureus

History Streptococcus pyogenes

Purulent discharge with sticking together of eyelashes in the morning is typical. It usually starts N. gonorrhoeae (a hyperacute onset)
in one eye and spreads to the other. There may be a history of contact with a person with similar
symptoms. The organisms are usually picked up from contaminated fingers, face cloths or Pseudomonas aeruginosa
towels.
Diagnosis is usually clinical, but a swab should be taken for smear and culture with:2 Page 487

Clinical features hyperacute or severe purulent conjunctivitis

Gritty red eye prolonged infection
Purulent discharge, usually without lymphadenopathy neonates
Clear cornea
Management3
Limit the spread by avoiding close contact with others, use of separate towels and good ocular
hygiene. Clear away debris and mucus with saline solution before topical treatment. Exclude
serious causes and a foreign body.
Mild cases
Mild cases may resolve with saline irrigation of the eyelids and conjunctiva but may last up to 14
days if untreated.8 An antiseptic eye drop such as propamidine isethionate 0.1% (Brolene) 1–2
drops, 6–8 hourly for 5–7 days can be used. Cooled black tea is reportedly widely used in Middle
Eastern countries with good effect.
More severe cases
Chloramphenicol 0.5% eye drops, 1–2 drops 2 hourly for 24 hours,1 decrease to 4 times a day for
another 7 days (max. 10 days—cases of aplastic anaemia have been reported with long-term
use).
It is commonly associated with URTIs and is the type of conjunctivitis that occurs in epidemics
(pink eye).1 The conjunctivitis usually has a 2–3 week course; it is initially one-sided but with
cross-infection occurring days later in the other eye. It can be a severe problem with a very
irritable, watering eye.
Examination
The examination should be conducted with gloves. It is usually bilateral with diffuse
conjunctival infection and productive of a scant watery discharge. Viral infections typically but
not always produce a follicular response in the conjunctivae (tiny, pale lymphoid follicles) and
an associated pre-auricular lymph node (see FIG. 40.3 ). Subconjunctival haemorrhages may
occur with adenovirus infection. High magnification, ideally a slit lamp, may be necessary to
visualise some of the changes, such as small corneal opacities, follicles and keratitis.

Also use chloramphenicol 1% eye ointment each night or, alternatively, framycetin 0.5% eye
drops, 1–2 drops every 1–2 hours for the first 24 hours, decreasing to 8 hourly until discharge
resolves for up to 7 days.

Note: Never pad a discharging eye.

Practice tip
Brick-red eye—think of chlamydia.
FIGURE 40.3 Viral conjunctivitis: watery eye, lid swelling, typical eyelid
follicles, associated local lymphadenopathy
Specific organisms
Diagnosis is based on clinical grounds and a history of infected contacts. Viral culture Page 488
Pseudomonas and other coliforms: use topical gentamicin and tobramycin. Chloromycetin and serology can be performed to identify epidemics.
ineffective.
Treatment
N. gonorrhoeae: use appropriate systemic antibiotics depending on sensitivity (use Gram stain
culture and PCR). Use ceftriaxone or cefotaxime 1 g IM or IV as a single dose (adults).3 Limit cross-infection by appropriate rules of hygiene and patient education.

Chlamydia trachomatis—may be sexually transmitted (a full STI screen is advisable). Differs
from trachoma-causing strains. Shows a brick-red follicular conjunctivitis with a stringy
mucus discharge. Treatment is with azithromycin.
Viral conjunctivitis
The most common cause of this very contagious condition is adenovirus.
Treatment is symptomatic—cool compress or saline bathing, possibly with topical lubricants
(artificial tear preparations) or vasoconstrictors (e.g. phenylephrine).
Do not pad; avoid bright light.
Watch for secondary bacterial infection. Avoid corticosteroids, which reduce viral shedding
and prolong the problem.

History Primary herpes simplex infection

This viral infection produces follicular conjunctivitis. About 50% of patients have associated lid Systemic antibiotic treatment:8
or corneal ulcers/vesicles, which are diagnostic.2
neonates: azithromycin 20 mg/kg orally, daily for 3 days3
Dendritic ulceration highlighted by fluorescein staining is diagnostic (see FIG. 40.4 ). Antigen
detection or culture may allow confirmation. children over 6 kg and adults: azithromycin 1 g (o) as single dose

Note: Treat contacts in cases of STI.

Allergic conjunctivitis
Allergic conjunctivitis results from a local response to an allergen. It includes:

vernal (hay fever) conjunctivitis

contact hypersensitivity reactions, e.g. reaction to preservatives in drops

Vernal (hay fever) conjunctivitis

This is usually seasonal and related to pollen exposure, particularly in younger people. There is
FIGURE 40.4 Herpes simplex keratitis—gritty, watery eye with typical usually associated rhinitis (see CHAPTER 72 ).
dendritic ulcer, stained with fluorescein
Treatment3
Treatment (herpes simplex keratitis)
Tailor treatment to the degree of symptoms. Artificial tear preparations may give adequate
Attend to eye hygiene symptomatic relief. Oral antihistamines may be required but topical measures usually suffice.

Aciclovir 3% ointment, five times a day for 14 days or for at least 3 days after healing3 Eye drop options:

Atropine 1% 1 drop, 12 hourly, for the duration of treatment will prevent reflex spasm of the 1. Medications with both antihistamine and mast cell stabilising properties
pupil (specialist supervision)
ketotifen or olopatadine twice daily, or azelastine 2–4 times daily
Debridement by an ophthalmologist
2. Mast cell stabilisers
Never use corticosteroids, and refer all new cases early to an ophthalmologist.
cromoglycate or lodoxamide 4 times daily
Chlamydial conjunctivitis 3. Antihistamines
Chlamydial conjunctivitis is encountered in three common situations: levocabastine 2–3 times daily
neonatal infection (first 1–2 weeks) 4. Topical corticosteroids (severe cases, should refer)
young patient with associated venereal infection Avoid vasoconstrictors (e.g. naphazoline, tetryzoline).
isolated Aboriginal and Torres Strait Islander people with trachoma
Contact hypersensitivity
Take swabs for culture and PCR testing.
Common topical allergens and toxins include topical ophthalmic medications, especially
antibiotics, contact lens solutions (often the contained preservative) and a wide range of Episcleritis and scleritis
cosmetics, soaps, detergents and chemicals. Clinical features include burning, itching and
watering with hyperaemia and oedema of the conjunctiva and eyelids. A skin reaction of the lids Episcleritis and scleritis present as a localised area of inflammation (see FIGS 40.1 and
usually occurs. Page 489 40.6 ). The episclera is a vascular layer that lies just beneath the conjunctiva and adjacent to
the sclera. Both may become inflamed, but episcleritis (which is more localised) is essentially
Treatment self-limiting, while scleritis (which is rare) is more serious as the eye may perforate.6 Both
conditions may be confused with inflammation associated with a foreign body, pterygium or
Withdraw the causative agent. pinguecula. There are no significant associations with episcleritis, which is usually idiopathic,
but scleritis may be associated with connective tissue disease, especially rheumatoid arthritis and
Apply normal saline compresses.
herpes zoster and rarely sarcoidosis and tuberculosis.
Treat with naphazoline or phenylephrine.

If not responding, refer for possible corticosteroid therapy.

Subconjunctival haemorrhage
Subconjunctival haemorrhage, which appears spontaneously, is a beefy red localised
haemorrhage with a definite posterior margin (see FIG. 40.5 ). If it follows trauma and extends
backwards, it may indicate an orbital fracture. It is usually caused by a sudden increase in
intrathoracic pressure such as coughing and sneezing. It is not related to hypertension but it is
worthwhile measuring the blood pressure to help reassure the patient.

FIGURE 40.6 Episcleritis showing inflammation of the conjunctival and

episclerical tissue only. Note the absence of violaceous colour that is seen in
scleritis.

Clinical features
Episcleritis:

no discharge
FIGURE 40.5 Subconjunctival haemorrhage: usually a localised haemorrhage
that appears spontaneously. It is pain free. If traumatic and extends posteriorly, no watering
it may indicate an orbital fracture.
vision normal (usually)
Management
often sectorial
No local therapy is necessary. The haemorrhage absorbs over 2 weeks. Patient explanation and
reassurance is necessary (‘a highly visible minor bruise’). If haemorrhages are recurrent, a usually self-limiting
bleeding tendency should be excluded.
Treat with topical or oral steroids.
Scleritis:

painful loss of vision

urgent referral

History
A red and sore eye is the presenting complaint. There is usually no discharge but there may be
reflex lacrimation. Scleritis is much more painful than episcleritis6 and the eye becomes
intensely red.

Examination
With scleritis, there is a localised area of inflammation that is tender to touch (FIG. 40.6 ), and
which is more extensive than with episcleritis, being uniform across the eye. The inflamed
vessels are larger than the conjunctival vessels. Application of topical phenylephrine 2.5%
produces blanching of superficial episcleral vessels but no blanching of deep scleral vessels. FIGURE 40.7 Diagrammatic representation of eye structures involved in
Page 490 inflammatory disorders
Management
Causes include autoimmune-related diseases such as the seronegative arthropathies (e.g.
An underlying cause such as an autoimmune condition should be identified. Refer the patient, ankylosing spondylitis), SLE, IBD, sarcoidosis and some infections (e.g. toxoplasmosis and
especially for scleritis. Corticosteroids or NSAIDs may be prescribed. syphilis).

Uveitis (iritis) Clinical features

The iris, ciliary body and the choroid form the uveal tract, which is the vascular coat of the Eye redness, esp. around the edge of the iris
eyeball.3 Eye discomfort or pain
Anterior uveitis (acute iritis or iridocyclitis) is inflammation of the iris and ciliary body and this Increased tearing
is usually referred to as acute iritis (see FIG. 40.7 ). The iris is sticky and sticks to the lens. The
pupil may become small because of adhesions, and the vision is blurred. Blurred vision

Sensitivity to light

Floaters in the field of vision

Small pupil

The examination findings are summarised in TABLE 40.2 . The affected eye is red, with the
infection being particularly pronounced over the area covering the inflamed ciliary body (ciliary
flush). However, the whole bulbar conjunctivae can be infected. The patient should be referred to
a consultant. Slit lamp examination aids diagnosis.

Management involves finding the underlying cause. Treatment includes pupil dilatation with
atropine drops and topical steroids to suppress inflammation. Systemic corticosteroids may be
necessary. The prognosis of anterior uveitis is good if treatment and follow-up are maintained, A variety of symptoms
but recurrence is likely.
Dryness, grittiness, stinging and redness
Posterior uveitis (choroiditis) may involve the retina and vitreous membrane. Blurred vision and
floating opacities in the visual field may be the only symptoms. Pain is not a feature. Referral to Sensation of foreign body (e.g. sand)
detect the causation and for treatment is essential.
Photophobia if severe
Acute glaucoma Slit light examination diagnostic with special stains
Acute glaucoma should always be considered in a patient over 50 years presenting with an Treatment
acutely painful red eye. Permanent damage will result from misdiagnosis. The attack
characteristically strikes in the evening or early morning when the pupil becomes semidilated.6 Treat the cause.

Clinical features Bathe eyes with clean water.

Patient >50 years Use artificial tears: hypromellose (e.g. Tears Naturale), polyvinyl alcohol (e.g. Tears Plus).

Pain in one eye Be cautious of adverse topical reactions.

± Nausea and vomiting Refer severe cases.

Impaired vision
Eyelid and lacrimal disorders
Haloes around lights
There are several inflammatory disorders of the eyelid and lacrimal system that present as a ‘red
Hazy cornea and tender’ eye without involving the conjunctiva. Any suspicious lesion should be referred.
Fixed semidilated pupil
Stye (external hordeolum)
Eye feels hard
A stye is an acute abscess of a lash follicle or associated glands of the anterior lid margin, caused
Management usually by S. aureus. The patient complains of a red tender swelling of the lid margin, usually on
the medial side (see FIG. 40.8 ). A stye may be confused with a chalazion, orbital cellulitis or
Urgent ophthalmic referral is essential since emergency treatment is necessary to preserve the dacryocystitis.
eyesight. If immediate specialist attention is unavailable, treatment can be initiated with
acetazolamide (Diamox) 500 mg IV and pilocarpine 4% drops to constrict the pupil or pressure-
lowering drops.

Keratoconjunctivitis sicca
Dry eyes are a common problem, especially in elderly women. Lack of lacrimal secretion can be
functional (e.g. ageing), or due to systemic disease (e.g. rheumatoid arthritis, SLE, Sjögren
syndrome), drugs (e.g. β-blockers) or other factors, including menopause. Up to 50% of patients
with severe dry eye have Sjögren syndrome. Page 491

Clinical features
 FIGURE 40.8 Hordeolum: a stye. This is a focal staphylococcal infection of
the root of an eyelash.

Management
Use heat to help it ‘point’ and discharge by using direct steam from a thermos (see
FIG. 40.9 ) onto the enclosed eye or by hot-water compresses.

If fluctuant and pointing, perform lash epilation to allow drainage of pus (incise with a size 11
blade if epilation does not work). Squeezing is discouraged.

Do not use antibiotics (topical or oral) unless secondary spread (cellulitis).6

FIGURE 40.10 Excision of a meibomian cyst, using a chalazion clamp and

curette

Meibomianitis is usually a staphylococcal micro-abscess of the gland, and oral

antistaphylococcal antibiotics (not topical) are recommended (e.g. di/flucloxacillin 500 mg (o) 6
hourly for adults). Surgical incision and curettage may also be necessary.

FIGURE 40.9 Steaming the painful eye: allow steam to rise from a thermos
onto the closed eye for 10–15 minutes
Chalazion (meibomian cyst)
Also known as an internal hordeolum, this granuloma of the meibomian gland in the eyelid may
become inflamed and present as a tender irritating lump in the lid. Look for evidence of
blepharitis. Differential diagnoses include sebaceous gland carcinoma and basal cell carcinoma.
Blepharitis
This common chronic condition of the eyelids may involve inflammation of the lid margins
(anterior blepharitis) which is commonly associated with secondary ocular effects such as styes,
chalazia and conjunctival or corneal ulceration (see FIG. 40.11 ). Posterior blepharitis, which
involves abnormalities of the submucus meibomian glands at the rim of the eyelids, is frequently
associated with seborrhoeic dermatitis (especially) and atopic dermatitis, and less so with
rosacea.8 There is a tendency to colonisation of the lid margin with S. aureus, which causes an
ulcerative infection. May have lash loss and trichiasis if chronic.

Management
Conservative treatment may result in resolution. This involves heat either as steam from a
thermos or by applying a hot compress (a hand towel soaked in hot water) followed by light
massage. If the chalazion is very large, persistent or uncomfortable, or is affecting vision, it can
be incised and curetted under local anaesthesia. This is best performed through the inner
conjunctival surface using a chalazion clamp (blepharostat) (see FIG. 40.10 ). Page 492
 FIGURE 40.11 Blepharitis: common complicating features for several months) (e.g. tetracycline hydrochloride 1% or framycetin 0.5% or
chloramphenicol 1% ointment to lid margins 3–6 hourly).8
The two types are:
If not controlled by topical measures, use systemic antibiotics such as doxycycline 50 mg
anterior blepharitis—staphylococcal daily for at least 8 weeks (erythromycin for children <8 years), or flucloxacillin may be
required for lid abscess.
posterior blepharitis—seborrhoeic (mainly) and rosacea
Avoid wearing make-up and contact lenses if inflammation is present.
Clinical features9
Dacryocystitis
Persistent sore eyes or eyelids
Acute dacryocystitis is infection of the lacrimal drainage system secondary to obstruction of the
Irritation, grittiness, burning, dryness and ‘something in the eye’ sensation, worse in mornings nasolacrimal duct at the junction of the lacrimal sac (see FIG. 40.12 ). Inflammation is localised
over the medial canthus. There is usually a history of a watery eye for months beforehand. The
Lid or conjunctival swelling and redness problem may vary from being mild (as in infants) to severe with abscess formation. Page 493

Crusts or scales around the base of the eyelids

Discharge or stickiness, especially in morning

Inflammation and crusting of the lid margins

Management

Anterior blepharitis

Eyelid hygiene is the mainstay of therapy. The crusts and other debris should be gently
cleaned with a cotton wool bud dipped in a 1:10 dilution of baby shampoo or a solution of
sodium bicarbonate, once or twice daily. Application of a warm water compress or saline soak
with gauze for 5 minutes is also effective. Proprietary lid solutions or wipes can also be used.
If not controlled, apply chloromycetin 1% ointment once or twice daily for up to 4 weeks and FIGURE 40.12 Acute dacryocystitis with abscess formation. Associated
review. Refer resistant cases. obstruction of the nasolacrimal duct at the junction of the lacrimal sac, which
has become infected.
Posterior blepharitis
Management
Follow the same hygiene methods as above but with firm eye massage in a circular motion
towards the lid margins to closed eyes, for 5–10 minutes twice a day. Use local heat: steam or a hot moist compress.

Ocular lubricants such as artificial tear preparations may greatly relieve symptoms of Use analgesics.
keratoconjunctivitis sicca (dry eyes).
In mild cases, massage the sac and duct with warm compresses, and instil astringent drops
Control scalp seborrhoea with regular medicated shampoos. (e.g. zinc sulphate + phenylephrine) or chloramphenicol 0.5% eye drops if inflammation.

If persistent, short-term use of a mild topical corticosteroid ointment (e.g. hydrocortisone For acute cases, systemic antibiotics are best guided by results of Gram stain and culture but
0.5%) can be effective. initially use di/flucloxacillin or cephalexin.

Treat infection with an antibiotic ointment smeared on the lid margin (this may be necessary Measures to establish drainage are required eventually. Recurrent attacks or symptomatic
 watering of the eye are indications for surgery such as dacryocystorhinostomy.

Dacryoadenitis
Dacryoadenitis is infection of the lacrimal gland presenting as a tender swelling on the outer
upper margin of the eyelid. It may be acute or chronic and has many causes. It is usually caused
by a viral infection (e.g. mumps), which is treated conservatively with warm compresses.
Bacterial infection is treated with appropriate antibiotics.

Orbital cellulitis
Orbital cellulitis includes two basic types—peri-orbital (or preseptal), which is soft tissue
infection of the eyelids, and orbital (or postseptal) cellulitis. The latter, which arises from
infection of the paranasal sinus, dental abscess or orbital trauma, is a potentially blinding and
life-threatening condition. It is especially important in children in whom blindness may develop
in hours. The patient, often a child, presents with unilateral swollen eyelids that may be red. Ask
about a history of sinusitis, peri-ocular trauma, surgery, bites and immunocompromise issues.

Features to look for in orbital cellulitis include:6

a systemically unwell patient FIGURE 40.14 Peri-orbital cellulitis following an abrasion to the eye. Treat this
as an urgent condition.
proptosis
Immediate referral to hospital for specialist treatment is essential for both types. Treatment is
peri-ocular swelling and erythema usually with IV cefotaxime until afebrile, then amoxicillin/clavulanate for 7–10 days for peri-
orbital cellulitis and for orbital cellulitis, IV cefotaxime + flucloxacillin together followed by
tenderness over the sinuses amoxicillin/clavulanate (o) 10 days.3 Page 494

ocular nerve compromise (reduced vision, impaired colour vision or abnormal pupils)
Herpes zoster ophthalmicus
restricted and painful eye movements (see FIG. 40.13 )
Herpes zoster ophthalmicus (shingles) affects the skin supplied by the ophthalmic division of the
trigeminal nerve. The eye may be affected if the nasociliary branch is involved. The rash usually
appears on the tip of the nose. Ocular problems include conjunctivitis, uveitis, keratitis and
glaucoma.

FIGURE 40.13 Important signs in the patient presenting with orbital cellulitis
In peri-orbital cellulitis, which usually follows an abrasion, there is no pain or restriction of eye
movement (see FIG. 40.14 ).
Immediate referral is necessary if the eye is red, vision is blurred or the cornea cannot be
examined. Apart from general eye hygiene, treatment usually includes one of the oral antiherpes
virus agents such as oral aciclovir 800 mg, five times daily for 10 days or (if sight is threatened)
aciclovir 10 mg/kg IV slowly 8 hourly for 10 days (provided this is commenced within 3 days of
the rash appearing)5,8 and topical aciclovir ointment 4 hourly (see CHAPTER 114 ).
Pinguecula and pterygium10
Pinguecula is a yellowish elevated nodular growth on either side of the cornea in the area of the
palpebral fissure. It is common in people over 35 years. The growth tends to remain static but
can become inflamed—pingueculitis. Usually no treatment is necessary unless they are large,
craggy and uncomfortable, when excision is indicated. If irritating, topical astringent drops such
as naphazoline compound drops (e.g. Albalon) can give relief.
Symptoms
Pterygium is a fleshy overgrowth of the conjunctiva onto the nasal side of the cornea and usually
occurs in adults living in dry, dusty, windy areas. Excision of a pterygium by a specialist is Ocular pain
indicated if it is likely to interfere with vision by encroaching on the visual axis, or if it becomes
Foreign body sensation
red and uncomfortable or disfiguring.
Watering of the eye (epiphora)
Corneal disorders 11
Blepharospasm
Patients with corneal conditions typically suffer from ocular pain or discomfort and reduced Blurred vision
vision. The common condition of dry eye may involve the cornea while contact lens disorders,
abrasions/ulcers and infection are common serious problems that threaten eyesight. Inflammation Diagnosis is best performed using fluorescein staining, ideally with a slit lamp and a cobalt blue
of the cornea—keratitis—is caused by factors such as UV light, e.g. ‘arc eye’, herpes simplex, filter, or use an ultraviolet light (small LED UV lights can replace the traditional Wood’s lamp).
herpes zoster ophthalmicus and the dangerous microbial keratitis. Bacterial keratitis is an
ophthalmological emergency that should be considered in the contact lens wearer presenting with Management (corneal ulcer)
pain and reduced vision.
Stain with fluorescein.
Topical corticosteroids should be avoided in the undiagnosed red eye.
Check for a foreign body.
Corneal abrasion and ulceration
Treat with chloramphenicol 1% ointment qid ± homatropine 2% (if pain due to ciliary spasm).
There are many causes of abrasions, particularly trauma from a foreign body embedded on the
corneal surface or ‘cul-de-sac’ FB, contact lenses, fingernails including ‘french nails’, and UV Double eye pad (if not infected).
burns. The abrasion may be associated with an ulcer, which is a defect in the epithelial cell layer Review in 24 hours.
of the cornea. Common causes of a corneal ulcer are listed in TABLE 40.3 .
A 6 mm defect heals in 48 hours.
Table 40.3 Corneal ulceration: common causes Consider early specialist referral.

Trauma Superficial punctate keratitis

Contact lens wear/injury
Punctate keratopathy presents as scattered small lesions on the cornea that stain with fluorescein
Infection—microbial keratitis:
if they are deep enough. It is a non-specific finding and may be associated with blepharitis, viral
bacterial (e.g. Pseudomonas [contact lens]) conjunctivitis, trachoma, keratitis sicca (dry eyes), UV light exposure (e.g. welding lamps,
viral (e.g. herpes simplex [dendritic ulcer], herpes zoster ophthalmicus) sunlamps), contact lenses and topical ocular agents. Management involves treating the cause and
fungal careful follow-up. Page 495

protozoal (e.g. Acanthamoeba)

Neurotrophic (e.g. trigeminal nerve defect) Practice tips
Immune-related (e.g. rheumatoid arthritis)
Spontaneous corneal erosion Think corneal abrasion if the eye is ‘watering’ and painful (e.g. caused by a large
Chronic blepharitis insect such as a grasshopper or other foreign body).
Overexposure (e.g. eyelid defects)
 If a slit lamp is unavailable, the direct ophthalmoscope and a magnifying loupe Hard lens trauma
can be used to view the cornea, but the standard blue light does not cause
fluorescence; use a UV light instead. This may cause corneal abrasions with irreversible endothelial changes or ptosis, especially with
the older polymethyl-methacrylate-based lenses. Recommend patient should change to modern
gas-permeable hard lenses.
Microbial keratitis Lost lenses
This is responsible for at least 1.5 million new cases of blindness every year in the developing Patients should be reassured that lenses cannot go behind the eye. The edge of the lens can
world and for significant morbidity in developed countries. It is a sight-threatening emergency. usually be seen by everting the upper lid.
Risk factors Preventive measures13
Contact lens wear Wash hands before handling lenses.
Corneal trauma, especially agriculture trauma Do not use tap water or saline.
Corneal surgery Clean lenses with disinfecting solution.
Postherpetic corneal lesion Store overnight in a clean airtight case with fresh disinfectant.
Dry eye Change the lens container solution daily.
Corneal anaesthetic Discard disposable lenses after 2 weeks.
Corneal exposure (e.g. VII nerve lesion)
Do not wear lenses while sleeping.
Ocular surface disease, including ulceration Do not wear lenses while swimming in lakes, rivers or swimming pools.
Pseudomonas aeruginosa is the most common causative organism in contact lens wearers. Refer to an ophthalmologist if a painful red eye develops, especially if a discharge is present.
Acanthamoeba is associated with bathing or washing in contaminated water.
Flash burns
Urgent referral to an ophthalmologist or eye clinic is needed to avoid rapid corneal destruction
with perforation, especially with bacterial keratitis. An appropriate ‘covering’ topical antibiotic is A common problem, usually presenting at night, is bilateral painful eyes caused by UV ‘flash
ciprofloxacin 0.3% or ofloxacin 0.3% eye drops. burns’ to both corneas some 5–10 hours previously. The mechanism of injury is UV rays from a
welding machine causing superficial punctate keratitis. Other sources of UV light such as
Problems with contact lenses sunlamps and snow reflection can cause a reaction.

Because a contact lens is a foreign body, various complications can develop and a history of the Management
use of contact lenses is important in the management of a red eye.
Local anaesthetic (long-acting) drops: once-only application (do not allow the patient to take
Infection home more drops).

Infection is more likely to occur with soft rather than hard lenses. They should not be worn when
sleeping since this increases the risk of infection 10-fold.12 One cause is Acanthamoeba keratitis
acquired from contaminated water that may be used for cleaning the lenses.
Instil homatropine 2% drops statim or other short-acting ocular dilating agent (be careful of
glaucoma) or plain tear lubricants.
Use analgesics (e.g. codeine plus paracetamol) for 24 hours.
 If severe, use chloramphenicol eye ointment in lower fornix (to prevent infection). the ruptured vessel could fill the anterior chamber with blood, blocking the escape of aqueous
humour and causing a severe secondary glaucoma. Loss of the eye can occur with a severe
Use firm eye padding for 24 hours, when eyes reviewed (avoid light). haemorrhage. It is likely to happen 2–4 days after the injury.

The eye usually heals completely in 48 hours. If not, check for a foreign body.

Note: Contact lens ‘overwear syndrome’ gives the same symptoms. Page 496

Cavernous sinus arteriovenous fistula

Such a fistula produces conjunctival hyperaemia but no inflammation or discharge. The lesion
causes raised orbital venous pressure. The fistula may be secondary to head injuries or may arise
spontaneously, particularly in postmenopausal women. It needs radiological investigation.

The classic symptom is a ‘whooshing’ sound synchronous with the pulse behind the eye, and the
sign is a bruit audible with the stethoscope placed over the orbit.

Penetrating eye injuries FIGURE 40.15 Hyphaemia of the eye showing blood in the anterior chamber;
this occurred in a 29-year-old man who was struck in the eye by a squash ball
These require urgent referral to an ophthalmologist. Do not remove any foreign body.

Consider:
Management
First, exclude a penetrating injury.
imaging: X-ray or CT scan

tetanus prophylaxis Avoid unnecessary movement: vibration will aggravate bleeding. (For this reason, do not use a
helicopter if evacuation is necessary.)
transport by land (i.e. full atmospheric pressure)
Avoid smoking and drinking alcohol.
injection of anti-emetic (e.g. metoclopramide)
Do not give aspirin (can induce bleeding).
Use no ointment or eye drops, including local anaesthetic.
Prescribe complete bed rest for 5 days and review the patient daily.
If significant delay is involved, give one dose (in adults) of:8
Apply padding over the injured eye for 4 days.
gentamicin 1.5 mg/kg IV plus
Administer sedatives as required.
cefotaxime 1 g or ceftriaxone 1 g IV (can give ceftriaxone IM but with lignocaine 1%)
Beware of ‘floaters’, ‘flashes’ and field defects.
or
Arrange ophthalmic consultation after 1 month to exclude glaucoma and retinal detachment. No
vancomycin IV + oral ciprofloxacin sport before this time.

Hyphaema
With hyphaema, a common blunt sporting injury, bleeding from the iris collects in the anterior
chamber of the eye (see FIG. 40.15 ). The danger is that, with exertion, a secondary bleed from
Endophthalmitis14
This is an intra-ocular bacterial infection that may complicate any penetrating injury, including
intra-ocular surgery. It should be considered in patients with such a history presenting with a red
painful eye. Pus may be seen in the anterior chamber (hypopyon).
Urgent referral is mandatory. If significant delay, use ciprofloxacin (o) + vancomycin or uveitis/acute iritis
gentamicin IV as single doses.3
Behçet syndrome
Epiphora (watering eyes) acute glaucoma
This has many causes and is more common in older people. giant cell arteritis
The main causes are drainage obstruction and excessive tear production, which includes physical orbital cellulitis (pre- and post-)
and chemical irritants, blepharitis and entropion. Management depends on the person’s age.
Remove any mucoid discharge and massage the nasolacrimal sac. acute dacryocystitis

Antibiotics are indicated only for conjunctivitis, blepharitis or dacryocystitis. Probing of the keratitis
ducts or even surgery may be required.
episcleritis/scleritis
Page 497
endophthalmitis
When to refer
herpes zoster ophthalmicus
Uncertainty about the diagnosis
Note: As a general rule never use corticosteroids or atropine in the eye before referral to an
Uveitis, acute glaucoma, episcleritis/scleritis or corneal ulceration ophthalmologist.

Deep central corneal and intra-ocular foreign bodies

Practice tips
Prolonged infections, with a poor or absent response to treatment or where therapy may be
complicating management Avoid long-term use of any medication, especially antibiotics (e.g.
chloramphenicol: course for a maximum of 10 days).2
Infections or severe allergies with possible ocular complications
Note: Beware of allergy or toxicity to topical medications, especially antibiotics, as
Sudden swelling of an eyelid in a child with evidence of infection suggestive of orbital a cause of persistent symptoms.
cellulitis—this is an emergency
As a general rule, avoid using topical corticosteroids or combined
Emergency referral is also necessary for hyphaema, hypopyon, penetrating eye injury, acute corticosteroid/antibiotic preparations.
glaucoma, severe chemical burn
Never use corticosteroids in the presence of a dendritic ulcer.
Herpes zoster ophthalmicus: if the external nose is involved then the internal eye may be
involved To achieve effective results from eye ointment or drops, remove debris such as
mucopurulent exudate with bacterial conjunctivitis or blepharitis by using a warm
Summary for urgent referral: solution of saline (dissolve a teaspoon of kitchen salt in 500 mL of boiled water) to
bathe away any discharge from conjunctiva, eyelashes and lids.
trauma (significant)/penetrating injury
A gritty sensation is common in conjunctivitis but the presence of a foreign body
hyphaema >3 mm
must be excluded.6
corneal ulcer
Beware of the contact lens ‘overwear syndrome’, which is treated in a similar way
severe conjunctivitis to flash burns.

Red eye golden rules
References
Always test and record vision
Beware of the unilateral red eye
Conjunctivitis is almost always bilateral
Irritated eyes are often dry
Never use steroids if herpes simplex is suspected
A penetrating eye injury is an emergency
Consider an intra-ocular foreign body
Watering eyes
1 McDonnell P. Red eye: an illustrated guide to eight common causes. Modern Medicine
Australia, 1989; October: 37–9.
2 Della NG. Acute conjunctivitis. In: MIMS Disease Index. Sydney: IMS Publishing, 1991–
92: 113–15.
3 Eye infections [published 2019]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed October 2019.
4 Colvin J, Reich J. Systematic examination of the red eye. Aust Fam Physician, 1976; 5:
153–65.

Beware of herpes zoster ophthalmicus if the nose is involved
Irregular pupils: think iritis, injury and surgery
Never pad a discharging eye
Refer patients with eyelid ulcers
5 Butler TK et al. Infective keratitis in older patients: a 4 year review. Br J Ophthalmol,
2005: 89(5): 591–6.
6 Kuzniarz M. Red eye. Medical Observer, 11 May 2012: 27–30.
7 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2018: 485–6.

If there is a corneal abrasion look for a foreign body 8 Lindsley K et al. Interventions for chronic blepharitis (Cochrane Review). Cochrane
Database. Syst Rev, 2012; Issue 5: Art No. CD005556.
Source: Based on J Colvin and J Reich4
9 Colvin J. Painful eye: an emergency call. Aust Fam Physician, 1985; 14: 1258.

10 Watson SL. Common corneal conditions. MedicineToday, 2005; 6(5): 22–30.

Patient education resources
11 Schein OD, Poggio EC. Ulcerative keratitis in contact lens wearers. Cornea, 1990; 9(1):
Hand-out sheets from Murtagh’s Patient Education 8th edition: 55–8.

Blepharitis 12 Lazarus MG. Complications of contact lenses. In: MIMS Disease Index (2nd edn). Sydney:
IMS Publishing, 1996: 121–3.
Bloodshot eye
13 Sehu W, Zagora S. The red eye. Australian Doctor. 12 October 2012: 23–30.
Chalazion (meibomian cyst)
14 Barry P, Cordovés L, Gardner S. European Society of Cataract Refractive Surgeons
Conjunctivitis (ESCRS). Guidelines for prevention and treatment of endophthalmitis following cataract
surgery. Dublin, Ireland, 2013.
Flash burns to the eyes

Foreign body in the eye

Stye
 tonsillitis
erosive lichen planus
Paranasal sinus disorders
Parotid gland:
41 Pain in the face mumps
sialectasis
cancer
pleomorphic adenoma
Page 498
It’s as though the devil suddenly thrust red hot electric needles through my right cheek TMJ dysfunction
towards my ear. Temporal arteritis
Absent physical signs
PATIENT (ANONYMOUS), DESCRIBING ‘TIC DOULOUREUX’
Atypical facial pain
When someone complains of pain in the face rather than the head, the physician has to consider
Chronic paroxysmal hemicrania
foremost the possibilities of dental disorders, sinus disease, especially of the maxillary sinuses,
temporomandibular joint (TMJ) dysfunction, eye disorders, lesions of the oropharynx or Depression-associated facial pain
posterior third of the tongue, trigeminal neuralgia and chronic paroxysmal hemicrania. Facial migraine (lower half headache)
The key to the diagnosis is the clinical examination because even the most sophisticated Glossopharyngeal neuralgia
investigation may provide no additional information. Migrainous neuralgia (cluster headache)
A basic list of causes of facial pain is presented in TABLE 41.1 .1 The causes can vary from the Trigeminal neuralgia (tic douloureux)
simple, such as aphthous ulcers, herpes simplex and dental caries, to serious causes, such as
carcinoma of the tongue, sinuses and nasopharynx or osteomyelitis of the mandible or maxilla.

Key facts and checkpoints

Table 41.1 Diagnoses to consider in orofacial pain
Dental disorders are the commonest cause of facial pain, accounting for up to 90%
Positive physical signs of pain in and about the face.2
Cervical spinal dysfunction The most common dental disorders are dental caries and periodontal diseases.
Dental pathology
Dental pain is invariably localised to the dental region of the face.
Erysipelas
Eye disorders The mean age of onset of trigeminal neuralgia is 50 years.

Herpes zoster There is a similarity in the ‘occult’ causes of pain in the ear and in the face (refer to
Nasopharyngeal cancer FIGS 39.4 and 39.5 ).

Oropharyngeal disorders: Sinusitis occurs mainly as part of a generalised upper respiratory infection.
ulceration (aphthous, infective, traumatic, others) Swimming is another common predisposing factor.
cancer
Dental root infection must be sought in all cases of maxillary sinusitis.
gingivitis/stomatitis
 iritis
A diagnostic approach optic neuritis
Chronic dental neuralgia (odontalgia)
A summary of the diagnostic strategy model is presented in TABLE 41.2 .
Salivary gland:
infection, mumps, suppuration, calculus, obstruction, cancer
Table 41.2 Pain in the face: diagnostic strategy model Acute glaucoma (upper face)
Cranial nerve neuralgias:
Probability diagnosis trigeminal neuralgia
Dental pain: glossopharyngeal neuralgia
caries
Seven masquerades checklist
periapical abscess
fractured tooth Depression
Maxillary/frontal sinusitis Spinal dysfunction (cervical spondylosis)
TMJ dysfunction Is the patient trying to tell me something?
Serious disorders not to be missed Quite probably. Atypical facial pain has underlying psychogenic elements.
Cardiovascular:
myocardial ischaemia
aneurysm of cavernous sinus Probability diagnosis
internal carotid aneurysm The commonest cause of facial pain is dental disorders, especially dental caries. Another
ischaemia of posterior inferior cerebellar artery common cause is sinusitis, particularly maxillary sinusitis.
Neoplasia:
cancer: mouth, sinuses, nasopharynx, tonsils, tongue, larynx, salivary gland TMJ dysfunction causing TMJ arthralgia is a very common problem encountered in Page 499
general practice and it is important to have some simple basic strategies to give the
metastases: orbital, base of brain, bone patient.
Severe infections:
herpes zoster
erysipelas Red flag pointers for pain in the face
periapical abscess → osteomyelitis
acute sinusitis → spreading infection Persistent pain: no obvious cause
Temporal arteritis Unexplained weight loss
Pitfalls (often missed)
Trigeminal neuralgia: possible serious cause
TMJ dysfunction
Migraine variants: Herpes zoster involving nose
facial migraine
Person >60 years: consider temporal arteritis, malignancy
chronic paroxysmal hemicrania
Atypical facial pain
Eye disorders:
Serious disorders not to be missed
glaucoma
It is important not to overlook cancer of various structures, such as the mouth, sinuses, (see FIG. 41.1 ) nerves, which may give pain around the ear. It is important to remember that
nasopharynx, tonsils, tongue, larynx and parotid gland, which can present with atypical chronic the C2 and C3 nerves share a common pathway with the trigeminal nerve (see CHAPTER 51 ).
facial pain.

It is important therefore to inspect these areas, especially in the elderly, but lesions in the
relatively inaccessible nasopharynx can be easily missed. Nasopharynx cancer spreads upwards
to the base of the skull early and patients can present with multiple cranial nerve palsies before
either pain or bloody nasal discharge.1

Tumours may arise in the bones of the orbit, for example, lymphoma or secondary cancer, and
may cause facial pain and proptosis. Similarly, any space-occupying lesion or malignancy arising
from the region of the orbit or base of the brain can cause facial pain by involvement (often
destruction) of trigeminal sensory fibres. This will lead to a depressed ipsilateral corneal reflex.

Also, aneurysms developing in the cavernous sinus1 can cause pain via pressure on any of the
divisions of the trigeminal nerve, while aneurysms from the internal carotid arising from the
origin of the posterior communicating artery can cause pressure on the oculomotor nerve.

Temporal arteritis typically causes pain over the temporal area but can cause ischaemic pain in
the jaws when chewing.

Pitfalls
Commonly overlooked causes of facial pain include TMJ arthralgia and dental disorders, FIGURE 41.1 Dermatomes of C2 and C3, with the overlap area indicated
especially of the teeth, which are tender to percussion, and oral ulceration. Diagnosing the
uncommon migraine variants, particularly facial migraine and chronic paroxysmal hemicrania, Depressive illness can present with a variety of painful syndromes and facial pain is no
often presents difficulties, including differentiating between the neuralgias. Glossopharyngeal exception. The features of depression may be apparent and thus antidepressants should be
neuralgia, which is rare, causes pain in the back of the throat, around the tonsils and adjacent prescribed. Usually the facial pain and the depression subside concomitantly.
fauces. The lightning quality of the pain of neuralgia gives the clue to diagnosis.

Page 500 Psychogenic considerations

Common pitfalls Psychogenic factors have to be considered in every painful condition. They are considered to be
high in patients with atypical facial pain.
Failing to refer unusual or undiagnosed causes of facial pain

Overlooking infective dental causes, which can cause complications The clinical approach
Failing to consider the possibility of malignant disease of ‘hidden’ structures in the older
patient History
Unaware that facial pain never crosses the midline Diagnosis of nearly all types of facial pain must be based almost entirely on the history. It is
often difficult to delineate the exact nature and distribution of the pain. The history should
Seven masquerades checklist include the typical analysis of pain, especially noting the site and radiation of the pain.

Of these, depression and cervical spinal dysfunction must be considered. The upper cervical Examination
spine can cause facial pain from lesions of C2 or C3 via the lesser occipital or greater auricular
Examination can often confirm the clinical impression given by the history—particularly
palpation/percussion/pressure around the teeth, TMJs and sinuses.
The patient’s general state and behaviour should be noted. Any sudden jabbing pain in the face
causing the characteristic ‘tic’ may indicate neuralgia.
Palpate the face and neck to include the parotid glands, eyes, regional lymph nodes and the skin.
Inspect and palpate the TMJs and cervical spine. Carefully inspect the nose, mouth, pharynx and
postnasal space. In particular inspect the teeth, percussing each tooth if dental disorder is
suspected. Bimanual palpation of the floor of the mouth is performed to detect induration or
submandibular and submental lymph node enlargement.
The sinuses, especially the maxillary sinuses, should be inspected and a (hygienically protected)
torch light can be placed inside the mouth to test transillumination of the maxillary sinuses. This
works best when one symptomatic side can be compared with an asymptomatic side.
Perform a neurological examination on the cranial nerves with special emphasis on the
trigeminal, oculomotor and glossopharyngeal nerves.
Dental disorders
Dental caries
Dental caries, impacted teeth, infected tooth sockets and dental roots can cause pain in the
maxillary and mandibular regions. Caries with periapical and apical abscess formation produces
pain from infection extending around the apex of the tooth into the alveolar bone. Retention of a
fractured root may cause unilateral paroxysmal pain. Impacted third molars (wisdom teeth) may
be associated with surrounding soft tissue inflammation (pericoronitis), causing pain that may be
localised to the mandible or radiate via the auriculotemporal nerve to the ear. Candida albicans,
which is an oral commensal, may colonise dentures causing hyperaemia and painful superficial
ulceration of the denture-bearing mucosa. Antibiotics are of no proven use.
Features of dental caries
Pain is usually confined to the affected tooth but it may be diffuse.

Pain is almost always aggravated by thermal changes in the mouth:

Investigations
cold—if dental pulp vital
If investigations are being contemplated referral may be appropriate, particularly as fibre-optic
nasopharyngoscopy is so commonly available as an ENT or maxillofacial ‘office test’. The hot—if dental pulp is necrotic
association of multiple sclerosis and tumours with neuralgias may have to be investigated.
Radiological investigations include plain X-rays of the paranasal sinuses, CT scans, MRI and Pain may be felt in more than one tooth.
orthopantomograms.
Dental pain will not cross the midline.
Page 501
Antibiotics are not indicated.
Facial pain in children
Treatment of dental pain
Apart from trauma, facial pain in children is almost invariably due to dental problems, rarely
migraine variants and occasionally childhood infections such as mumps and gingivostomatitis. A Arrange urgent dental consultation
serious problem sometimes seen in children is orbital cellulitis secondary to ethmoiditis.
Pain relief:3
Sinusitis occurs in children, especially older children, and it should be suspected with persistent
pain and bilateral mucopurulent rhinorrhoea (beyond 10 days). aspirin 600 mg (o) 4–6 hourly

or
Facial pain in the elderly
ibuprofen 400 mg (o) 4–6 hourly
Many of the causes of facial pain have an increased incidence with age, in particular trigeminal
neuralgia, herpes zoster, cancer, glaucoma, TMJ dysfunction, sialolithiasis and cervical or
spondylosis. Glossopharyngeal neuralgia does not seem to have a particular predilection for the
paracetamol 0.5–1 g (o) 4–6 hourly
elderly. Xerostomia due to decreased secretions of salivary glands may cause abrasion with
minor trauma. It may aggravate the pain of glossitis, which is common in the elderly.
Tooth abscess, inflamed wisdom tooth, spreading dental
infection or root canal infection FIGURE 41.2 Dry tooth socket: this is a very painful condition mainly in the
lower molars, unrelieved by analgesics following a tooth extraction 1–3 days
Dental treatment will usually alleviate the problem; however, if severe: earlier. The socket has few or no blood clots and sensitive bone surfaces are
covered by a greyish layer of necrotic tissue.
metronidazole 400 mg (o) 12 hourly for 5 days

plus either
Knocked-out or broken teeth

amoxicillin 500 mg (o) tds for 5 days If a permanent (second) tooth is knocked out, it can be saved by immediate proper care.
Likewise, a broken tooth should be saved and urgent dental attention sought.
or
The knocked-out tooth
phenoxymethylpenicillin 500 mg (o) 6 hourly for 5 days
Using a glove, hold the tooth by its crown and place it in its original position, preferably
If unresponsive, or if single preparation preferred: immediately (see FIG. 41.3 ); if dirty, put it in milk or saline before replacement or, better
still, place it under the tongue and ‘wash it’ in saliva. Do not use water, and do not wipe or
amoxicillin/clavulanate 875/125 mg (o) bd touch the root.
(adjust all preparations for children’s dosages) Fix the tooth by moulding strong aluminium foil over it and the adjacent teeth. Page 502

For patients hypersensitive to penicillin: Refer to a dentist or dental hospital as soon as possible.
clindamycin 300–450 mg (o) 8 hourly for 5 days

Gingivitis and periodontitis

Refer to CHAPTER 61.

Alveolar osteitis (dry socket)

This complicates about 5% of tooth extractions and is due to failure of healing. Refer for
toileting (socket irrigation with warm saline) and insertion of dressing to reduce pain. This
usually heals naturally in 14–21 days. Antibiotics are of no proven use (see FIG. 41.2 ).3,4
FIGURE 41.3 Replacement of a knocked-out tooth

Note: Teeth replaced within half an hour have a 90% chance of successful re-implantation.

Ludwig angina4
This is a rapidly swelling cellulitis occurring in both the sublingual and submaxillary spaces
without abscess formation, often arising from a root canal infection. It resembles an abscess and
should be treated as one. It is potentially life-threatening as it can compromise the airway.

Management
Culture and sensitivity testing
 Specialist consultation Prolonged fever

Empirical treatment: Epistaxis

amoxicillin 2 g IV, 6 hourly Suspect bacterial cause if high fever and purulent nasal discharge.

plus Clinical features (chronic sinusitis)

metronidazole 500 mg IV, 12 hourly Vague facial pain

Pain from paranasal sinuses Offensive postnasal drip

Nasal obstruction
Infection of the paranasal sinuses may cause localised pain. Localised tenderness and pain may
be apparent with frontal or maxillary sinusitis. Sphenoidal or ethmoidal sinusitis causes a Toothache
constant pain behind the eye or behind the nose, often accompanied by nasal blockage. Chronic
infection of the sinuses may be extremely difficult to detect. The commonest organisms are Malaise
Streptococcus pneumoniae, Haemophilus influenzae and Moraxella catarrhalis.
Halitosis
Expanding lesions of the sinuses, such as mucocoeles and tumours, cause local swelling and
displace the contents of the orbit—upwards for maxillary, laterally for the ethmoids and Some simple office tests
downwards for the frontal.
Diagnosing sinus tenderness7
Maxillary sinusitis
Page 503
To differentiate sinus tenderness from non-sinus bone tenderness palpation is useful.
The maxillary sinus is the one most commonly infected.5 It is important to determine whether the This is best done by palpating a non-sinus area first and last (see FIG. 41.4 ), systematically
sinusitis is caused by stasis following a URTI or acute rhinitis, or due to dental root infection. exerting pressure over the temporal bones (T), then the frontal (F), ethmoid (E) and maxillary
Most episodes are of viral origin, and in the first few days this is indistinguishable from bacterial (M) sinuses, and finally zygomas (Z), or vice versa.
infections.6

Clinical features (acute sinusitis)

Facial pain and tenderness (over sinuses)

Toothache

Headache

Purulent postnasal drip

Nasal discharge

Nasal obstruction

Rhinorrhoea

Cough (worse at night)

 Control predisposing factors.

Consider antibiotic therapy, but remember it is a self-limiting condition that has equal
outcomes at day 10 with or without antibiotics.6 The ‘number needed to harm’ with antibiotic
side effects is unfavourable compared to the ‘number needed to treat’ with symptom
resolution.

Establish drainage by stimulation of mucociliary flow and relief of obstruction.

Guidelines for antibiotic therapy

Consider therapy for severe cases that fail to improve over the first 5–7 days and display at least
three of the following:

persistent mucopurulent nasal discharge (>7–10 days)

facial pain

poor response to decongestants

tenderness over the sinuses, especially maxillary

FIGURE 41.4 Diagnosing sinus tenderness: T (temporal) and Z (zygoma)
tenderness on percussion of maxillary molar and premolar teeth that cannot be attributed to by
represent no sinus bony tenderness, for purposes of comparison
a single tooth
Differential tenderness both identifies and localises the main sites of infection (see FIG. 41.4 ).
Measures
Diagnosing unilateral sinusitis
Analgesics
A simple way to assess the presence or absence of fluid in the frontal sinus, and in the maxillary
sinus (in particular), is the use of transillumination. It works best when one symptomatic side can Antibiotics (if indicated):3
be compared with an asymptomatic side.
amoxicillin 500 mg (o) tds or 1 g (o) bd for 5 days
It is necessary to have the patient in a darkened room and to use a small, narrow-beam torch. For
or (if sensitive to penicillin)
the maxillary sinuses remove dentures (if any). Shine the light inside the mouth (with lips sealed,
and torch hygienically covered e.g. plastic bag), on either side of the hard palate, pointed at the doxycycline 100 mg (o) bd for 5 days
base of the orbit. A dull glow seen below the orbit indicates that the antrum is air-filled.
Diminished illumination on the symptomatic side indicates sinusitis. or
In the first few days, viral and bacterial sinusitis are indistinguishable. cefuroxime 500 mg (o) tds for 5 days
A CT scan may show mucosal thickening without fluid levels. Plain films are not indicated. or

Management (acute bacterial sinusitis) amoxicillin + clavulanate 875/125 mg (o) tds for 5–10 days if poor response to above
(indicates resistant H. influenzae)
Principles
In complicated or severe disease, use intravenous cephalosporins or flucloxacillin
Exclude dental root infection.
 Nasal decongestants (oxymetazoline-containing nasal drops or sprays)5 for 5 days (only if
congestion)
Inhalations (an important adjunct)
Nasal saline irrigation
Antihistamines and mucolytics are of no proven value. Cefuroxime is preferred to cephalexin or
cefaclor because of superior anti-pneumococcal activity.3
Page 504
Invasive methods
Surgical drainage may be necessary by atrial lavage or frontal sinus trephine.
Inhalations for sinusitis
The old method of towel over the head and inhalation bowl can be used, but it is better to direct
the vapour at the nose. Equipment needed is a container, which can be an old disposable bowl, a
wide-mouthed bottle or tin, or a plastic container. Guard against accidental burns.
For the inhalant, several household over-the-counter preparations are suitable such as Friar’s
Balsam (5 mL), Vicks VapoRub (1 teaspoon) or menthol (5 mL).
The cover can be made from a paper bag (with its base cut out), a cone of paper or a small
cardboard carton (with the corner cut away).
Method
1. Add 5 mL or 1 teaspoon of the inhalant to 0.5 L (or 1 pint) of boiled water in the container.
2. Place the paper or carton over the container.
3. Get the patient to apply nose and mouth to the opening and breathe in the vapour deeply and
slowly through the nose, and then out slowly through the mouth.
4. This should be performed for 5–10 minutes, three times a day, especially before retiring.
After inhalation, upper airway congestion can be relieved by autoinsufflation.
Chronic sinusitis
Chronic sinusitis (>12 weeks) or recurrent sinusitis may arise from chronic infection or allergy.
It may be associated with nasal polyps and vasomotor rhinitis, but is frequently associated with a
structural abnormality of the upper airways. Refer to CHAPTER 48 .
It does not usually cause pain unless an acute infection intervenes. Initial measures are the same
as for allergic rhinitis;6 use oral or intranasal antihistamine and add in an intranasal corticosteroid
(see CHAPTER 72 ). Nasal saline irrigation is a useful addition or alternative. After one month,
resistant cases (particularly those with nasal polyps) should be referred to a specialist. While
waiting, a temporary trial of oral prednisolone 25 mg may be reasonable. Surgical intervention
will benefit chronic recurrence with mechanical blockage.
TMJ dysfunction
This condition is due to abnormal movement of the mandible, especially during chewing. The
basic causes are dental malocclusion and masticatory muscle dysfunction. Check for bruxism.
The pain is felt over the joint and tends to be localised to the region of the ear and mandibular
condyle, but it may radiate forwards to the cheek and even the neck.
Examination
Check for pain and limitation of mandibular movements, especially on opening the mouth.
Palpate about the joint bilaterally for tenderness, which typically lies immediately in front of
the external auditory meatus; palpate the temporalis and masseter muscles.
Palpate the TMJ over the lateral aspect of the joint disc.
Ask the patient to open the mouth fully when tenderness is maximal. The TMJ can be palpated
posteriorly by inserting the little finger into the external canal.
Check for crepitus in mandibular movement.
Management
If organic disease such as rheumatoid arthritis and obvious dental malocclusion is excluded, a
special set of instructions or exercises can alleviate the annoying problem of TMJ arthralgia in
about 3 weeks. Warm packs may help. Provide patient education advice and self-care.
Method 1: ‘Chewing’ the piece of soft wood
Obtain a rod of soft wood approximately 15 cm long and 1.5 cm wide. An ideal object is a
large carpenter’s pencil.
Instruct the patient to position this at the back of the mouth so that the molars grasp the object
with the mandible thrust forward.
The patient then rhythmically bites on the object with a grinding movement for 2–3 minutes at
least 3 times a day.
Method 2: The ‘six by six’ program
This is a specific program recommended by some dental surgeons. The six exercises should be
carried out six times on each occasion, six times a day, taking about 1–2 minutes. in patients over the age of 50, affecting the second and third divisions of the trigeminal nerve and
on the same side of the face. Brief paroxysms of pain, often with associated trigger points, are a
Instruct the patient as follows: feature.

1. Hold the front one-third of your tongue to the roof of your mouth and take six deep Page 505
Clinical features
breaths.
Site: sensory branches of the trigeminal nerve (see FIG. 41.5 ) almost always unilateral (often
2. Hold the tongue to the roof of your mouth and open your mouth six times. Your jaw should right side)
not click.
Radiation: tends to commence in the mandibular division and spreads to the maxillary division
3. Hold your chin with both hands keeping the chin still. Without letting your chin move, push and (rarely) to the ophthalmic division
up, down and to each side. Remember, do not let your chin move.
Quality: excruciating, searing jabs of pain like a burning knife or electric shock
4. Hold both hands behind your neck and pull chin in.
Frequency: variable and no regular pattern
5. Push on upper lip so as to push head straight back.
Duration: seconds to 1–2 minutes (up to 15 minutes)
6. Pull shoulders back as if to touch shoulder blades together.
Onset: spontaneous or trigger point stimulus
These exercises should be pain-free. If they hurt, do not push them to the limit until pain eases.
Offset: spontaneous
Treatments
Precipitating factors: talking, chewing, touching trigger areas on face (e.g. washing, shaving,
Injection into the TMJ8 eating), cold weather or wind, turning onto pillow

Aggravating factors: trigger points usually in the upper and lower lip, nasolabial fold or lower
Indications: painful rheumatoid arthritis, osteoarthritis or TMJ dysfunction not responding to
eyelid (see FIG. 41.6 )
conservative measures. Inject a 1 mL solution of local anaesthetic and corticosteroid in equal
parts, around 1 cm anterior to where the top of the tragus meets the face. Relieving factors: nil
Dental management that may be required for malfunction of the bite includes dental occlusal Associated features: rarely occurs at night; spontaneous remissions for months or years
splinting.
Signs: there are no signs, normal corneal reflex
NSAIDs: a trial of NSAIDs, e.g. ibuprofen 400 mg (o) tds for 10 days, for TMJ inflammation
may need consideration. Cease if no response after 10 days.

Inflammatory or ulcerative oropharyngeal lesions

A variety of ulcerative conditions and infections of structures such as gingivae, tongue, tonsils,
larynx and pharynx can cause facial pain (refer to CHAPTER 61 ). Gingivostomatitis, herpes
labialis (cold sores) and aphthous ulceration are common examples. Lesions of the posterior third
of the tongue, the oropharynx, tonsils and larynx may radiate to the region of the ear via the
tympanic branch of the ninth nerve or the auricular branch of the tenth nerve.

Trigeminal neuralgia
Trigeminal neuralgia (tic douloureux) is a condition of often unknown cause that typically occurs
 Causes
Page 506
Unknown

Local pressure on the nerve root entry zone by tortuous pulsatile dilated small vessels
(probably up to 75%)

Multiple sclerosis

Neurosyphilis

Tumours of the posterior fossa

Note: Precise diagnosis of a condition that can become a burdensome ‘label’ is important. MRI
may be helpful.

Treatment
Patient education, reassurance and empathic support is very important in these patients.

Medical therapy
FIGURE 41.5 Typical cutaneous sensory distribution of the trigeminal nerve
and its branches carbamazepine (from onset of the attack to resolution)9 50 mg (elderly patient) or 100 mg (o)
bd initially; gradually increase the dose to avoid drowsiness every 7 days to 400 mg bd

Alternative drugs if carbamazepine not tolerated or ineffective (but question the diagnosis if lack
of response):

oxcarbazepine 300 mg bd

gabapentin 300 mg at night initially, increasing gradually to 600–1200 mg tds

lamotrigine 25 mg (o) alternate daily, slowly increasing every 14 days if necessary to

100 mg bd

phenytoin 300–500 mg daily

phenytoin 300 mg daily

baclofen 5 mg bd initially, increasing every 4 days up to 10–20 mg tds

Surgery

Refer to a neurosurgeon if medication ineffective

FIGURE 41.6 Trigeminal neuralgia: typical trigger points Possible procedures include:

decompression of the trigeminal nerve root (e.g. gel foam packing between the nerve and
 blood vessels)
neuroablative treatment, e.g. thermocoagulation/radiofrequency neurolysis
surgical division of peripheral branches
Glossopharyngeal neuralgia9,10,11
This is an uncommon condition of the ninth cranial nerve and branches of the vagus nerve with
similar clinical features of severe, lancinating pains, particularly felt in one ear, the base of the
tongue or beneath the angle of the jaw. The pain usually lasts 30–60 seconds.
Sites: back of throat around tonsillar fossa and adjacent fauces deep in ear, back of tongue
Radiation: ear canal, neck
Triggers: swallowing (esp. cold liquids), coughing, talking, yawning, laughing
Treatment: as for trigeminal neuralgia
Migrainous neuralgia (cluster headache)
As described in CHAPTER 45 , the pain is unilateral and centred around the eye with associated
lacrimation and stuffiness of the nose.
Facial migraine (lower half headache)9
Migraine may rarely affect the face below the level of the eyes, causing pain in the area of the
cheek and upper jaw. It may spread over the nostril and lower jaw. The pain is dull and
throbbing, and nausea and vomiting are commonly present. The treatment is as for other varieties
of migraine with simple analgesics or ergotamine for infrequent attacks.
Paroxysmal hemicrania/hemicrania continua
In the rare condition of chronic or episodic paroxysmal hemicrania, there is a unilateral facial
pain that can resemble chronic cluster headache but the duration is briefer, about 15 minutes, and
it may recur many times a day even for years. It responds dramatically to indomethacin, e.g.
indomethacin 25 mg (o) tds initially, then adjusting.12 The chronic form is termed hemicrania
continua, which persists for more than 3 months.
Page 507
Herpes zoster and postherpetic neuralgia
Refer to CHAPTER 114 . Herpes zoster may present as hyperaesthesia or a burning sensation in
any division of the fifth nerve, especially the ophthalmic division.
Atypical facial pain
Also known as persistent idiopathic facial pain, it is mainly a diagnosis of exclusion whereby
patients, usually middle-aged to elderly women, complain of diffuse pain in the cheek (unilateral
or bilateral) without demonstrable organic disease. The pain does not usually conform to a
specific nerve distribution (although in the maxillary area), varies in intensity and duration and is
not lancinating as in trigeminal neuralgia. It is usually described as deep-seated and ‘boring’,
severe, continuous and throbbing in nature. It is a very confusing and difficult problem to treat.
These patients tend to show psychoneurotic tendencies and it can be exacerbated by stress, but
caution is needed in labelling them as functional.
Treatment
Trial of an antidepressant,9 e.g.:
amitriptyline 10–75 mg nocte (first line)
or
dothiepin 25–150 mg nocte
Temporal arteritis
This may produce mild or severe unilateral or bilateral headache. There may be ischaemic pain
in the jaws when chewing. There may be marked scalp tenderness over the affected arteries. See
CHAPTER 21 for management.
Erysipelas
Classical erysipelas is a superficial form of cellulitis involving the face. It usually presents with
the sudden onset of butterfly erythema with a well-defined edge (see FIG. 41.7 ). It often starts
around the nose and there may be underlying sinus or dental infection which should be
investigated. There is an associated ‘flu-like’ illness and fever. It is invariably caused by
Streptococcus pyogenes. Treatment is by phenoxymethylpenicillin or di/flucloxacillin for 7–10
days.

FIGURE 41.7 Erysipelas: typical spreading distribution of the infection
When to refer
Severe trigeminal or glossopharyngeal neuralgia
Unusual facial pain, especially with a suspicion of malignancy
Continuing pain of uncertain cause
Positive neurological signs, such as impaired corneal reflex, impaired sensation in a trigeminal
dermatome, slight facial weakness, hearing loss on the side of the neuralgia
Possible need for surgical drainage of sinusitis—indications for surgery include failure of
appropriate medical treatment, anatomical deformity, polyps, uncontrolled sinus pain5
Dental root infection causing maxillary sinusitis
Other dental disorders
Practice tips
Malignancy must be excluded in the elderly with facial pain.
Problems from the molar teeth, especially the third (wisdom), commonly present
with peri-auricular pain without aural disease and pain in the posterior cheek.
Facial pain never crosses the midline; bilateral pain means bilateral lesions.13
If no obvious cause of persistent pain, refer to exclude sinister cause: don’t
overdiagnose sinusitis.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Sinusitis
Temporomandibular joint dysfunction
Page 508
References
1 Beck ER, Francis JL, Souhami RL. Tutorials in Differential Diagnosis. Edinburgh:
Longman Cheshire, 1987: 161–4.
2 Gerschman JA, Reade PC. Orofacial pain. Aust Fam Physician, 1984; 13: 14–24.
3 Oral and dental [published 2019]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed February 2021.
4 Kumar R, Sambrook P, Goss AW. Mismanagement of dental infection. Aust Prescr, 2011;
34: 40–1.
5 Chow AW et al. IPSA clinical practice guidelines for acute bacterial rhinosinusitis in
children and adults. Clin Infect Dis, 2012; 54(8): e72–e112.
6 Acute rhinosinusitis [published 2019]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed February 2021.
7 Bridges-Webb C. Diagnosing sinus tenderness: practice tip. Aust Fam Physician, 1981; 10:
742.
8 Murtagh J, Coleman J. Practice Tips (8th edn). Sydney: McGraw-Hill, 2019: 48–9.
9 Headache and facial pain [published 2017]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed September
2017.
10 Mendelsohn M, Lance J, Wheatley D. Facial pain: how to treat. Australian Doctor, 7
November; 2003: 31–6.
11 Wiffen PJ et al. Carbamazepine for acute and chronic pain in adults (Cochrane Review).
Cochrane Database. Syst Rev, 2011; Issue 19: Art No. CD005451.
12 Burns R. Pitfalls in headache management. Aust Fam Physician, 1990; 19: 1825.
13 Quail G. Diagnosing facial pain: non oro-dental causes. New Zeal Dent J, 2017; 113: 17–
21.
 Page 509
42 Fever and chills
Why! The fever itself is nature’s instrument.
THOMAS SYDENHAM (1624–1689), MEDICAL OBSERVATIONS
Although fever is a sign of disease and usually occurs in response to infection (mainly viral), its
presence is recognised as playing an important role in the individual’s defence against infection.
The infecting pathogen triggers hypothalamic receptors, causing the thermostatic mechanisms to
be reset to maintain core temperature at a higher level. The elevation in temperature results from
increased heat production (e.g. shivering) or decreased loss (e.g. peripheral vasoconstriction).
The elevation in body temperature activates T-cell production, increases the effectiveness of
interferons and limits the replication of some common viruses.1
Key facts and checkpoints
Fever plays an important physiological role in the defence against infection.
Normal body temperature (measured orally mid-morning) is 36–37.2°C (average
36.8°C).
Fever can be defined as an early-morning (6 am) maximal oral temperature
>37.2°C or a temperature >37.8°C at other times of the day, typically 4 pm.2
Oral temperature is about 0.4°C lower than core body temperature.
Axillary temperature is 0.5°C lower than oral temperature.
Rectal, vaginal and ear drum temperatures are 0.5°C higher than oral and reflect
core body temperature.
There can be a normal diurnal variation of 0.5–1°C.
Fevers due to infections have an upper limit of 40.5–41.1°C.
Hyperthermia (temperature above 41.1°C) and hyperpyrexia appear to have no
upper limit.
Infection remains the most important cause of acute fever.3
Symptoms associated with fever include sweats, chills, rigors and headache.
Causes of fever besides infections include malignant disease, mechanical trauma
(e.g. crush injury), vascular accidents (e.g. infarction, cerebral haemorrhage),
immunogenic disorders (e.g. drug reactions, SLE), acute metabolic disorders (e.g.
gout), and haemopoietic disorders (e.g. acute haemolytic anaemia).3
Drugs can cause fever, presumably because of hypersensitivity.3 Important
examples are allopurinol, antihistamines, barbiturates, cephalosporins, cimetidine,
methyldopa, penicillins, isoniazid, quinidine, phenolphthalein (including laxatives),
phenytoin, procainamide, salicylates and sulfonamides.
Drug fever should abate by 48 hours after discontinuation of the drug.4
Infectious diseases at the extremes of age (very young and aged)3 often present
with atypical symptoms and signs. Their condition may deteriorate rapidly.
Overseas travellers or visitors may have special, even exotic infections and require
special evaluation (refer to CHAPTER 129 ).
Immunologically compromised patients (e.g. those with AIDS) pose a special risk
for infections, including opportunistic infections.
A febrile illness is characteristic of the acute infection of HIV: at least 50% have an
illness that presents like glandular fever.
Chills/rigors2
The abrupt onset of fever with a chill or rigor is a feature of some diseases. Examples include:
bacteraemia/septicaemia
pneumococcal pneumonia
pyogenic infection with bacteraemia
lymphoma
pyelonephritis
visceral abscesses (e.g. perinephric, lung)
malaria
 biliary sepsis (Charcot triad—jaundice, right hypochondrial pain, fever/rigors)
Features of a true chill are teeth chattering and bed shaking, which is quite different Page 510
from the chilly sensations that occur in almost all fevers, particularly those in viral
infections. The event lasts 10–20 minutes.
Other features:
shaking cannot be stopped voluntarily
absence of sweating
cold extremities and pallor (peripheral vascular shutdown)
dry mouth and pilo-erection: lasts 10–20 minutes
Hyperthermia
Hyperthermia or hyperpyrexia is a temperature greater than 41.1°C. A more accurate definition
is a state when the body’s metabolic heat production or environmental heat load exceeds normal
heat loss capacity. Hyperthermia may be observed particularly in the tropics, in malaria and
heatstroke. It can occur with CNS tumours, infections or haemorrhages because of their effect on
the hypothalamus.
Heatstroke (sunstroke, thermic fever)5
This is the sudden onset of hot, dry, flushed skin with a rapid pulse, temperature above 40°C, and
confusion or altered conscious state in a person exposed to a very hot environment. The BP is
usually not affected initially but circulatory collapse may precede death. It is a life-threatening
emergency. The diagnosis is clinical. Differential diagnoses include severe acute infection, toxic
shock, food, chemical and drug poisoning. The elderly and debilitated are susceptible, as are
children left in cars.
Treatment
Immediate effective cooling water applied to skin—cool sprays, fanning
Icepacks at critical points (e.g. axillae, neck, head)
Full body immersion works, but caution in sick people
Aim to bring down temperature by 1°C every 10 minutes
Malignant hyperthermia
This is a rare hereditary disorder characterised by rapidly developing hyperpyrexia, muscular
rigidity and acidosis in patients undergoing major surgery.
Sweats
Sweating is a heat loss mechanism, and diffuse sweating that may soak clothing and bedclothing
permits rapid release of heat by evaporation. In febrile patients the skin is usually hot and dry—
sweating occurs in most when the temperature falls. It is characteristic of only some fevers (e.g.
septic infections and rheumatic fever).
Febrile neutropenia
This is fever usually with a temperature ≥38°C in a patient with neutrophils <0.5 × 109/L. It is a
common complication of people undergoing cancer therapy. If possible, the pathogen should be
identified and broad-spectrum antibiotics initiated urgently. Refer to the appropriate hospital or
specialist service.
Factitious fever
Factitious fever is usually encountered in hospitalised patients attempting to malinger. The
situation is usually suspected when:
a series of high temperatures is recorded to form an atypical pattern of fluctuation
there is excessively high temperature (41.1°C) and above
a recorded high temperature is unaccompanied by warm skin, tachycardia and other signs of
fever such as a flushed face and sweating
there is an absence of diurnal variation
The patient may have surreptitiously dipped the thermometer in warm water, placed it in contact
with a heat source or heated the bulb by friction with bedclothes or even mucous membranes of
the mouth.
Neuroleptic malignant syndrome
This is often confused with ‘malignant’ hyperthermia and heat stroke. The syndrome includes
high temperature, muscle rigidity, autonomic dysfunction and altered consciousness. It is a rare
and potentially lethal reaction in patients taking antipsychotic drugs, particularly occurring with
haloperidol alone or with other drugs, especially lithium carbonate. Refer to CHAPTER 68 .
Measurement of temperature
Temperature can be measured by several methods, including the liquid crystal thermometer, the
electronic probe thermometer, the digital infrared aural device, the forehead skin (temporal area) Don’t:
device and the digital peak-hold thermometer, which is the favoured general instrument for oral
and rectal use. dig thermometer in too hard

Oral use hold it too rigidly

1. Place under the tongue at the junction of the base of the tongue and the floor of the Page 511 allow the child to move around
mouth to one side of the frenulum—the ‘heat’ pocket.
Axillary use
2. Ensure that the mouth is kept shut.
This is unreliable with poor sensitivity and generally should be avoided but may be practical in
3. Remove dentures. young children.6

Rectal use If used, place high in the axilla for 3 minutes. Fever is present if the temperature is above 37.2°C.

This is an appropriate route for babies and young children under the age of 4 years but should be Groin use
used with care. The rule is ‘2–3 cm in for 2–3 minutes’ and some authorities claim that this
method is the gold standard for infants. This route is not ideal but is more reliable than the axilla. It closely approximates oral
temperature. In infants, the thigh should be flexed against the abdomen.
Method
Vaginal use
1. Lubricate the stub with petroleum or KY jelly.
This is self-administered as an adjunct to the assessment of ovulation during the menstrual cycle.
2. Insert for 2–3 cm past anal verge. It should be placed deeply in the vagina for 5 minutes before leaving bed in the morning.

3. Keep the thermometer between the flexed fingers with the hand resting on the buttocks (see
FIG. 42.1 ).
Infrared aural (eardrum) use
Tympanic (otic) thermography is now accepted standard practice. The temperature can be
measured in 3 seconds, with the infrared device placed in the ear canal. First, hold the child’s
head firmly to avoid any movement, then take temperature. The tympanic membrane (TM)
accurately reflects hypothalamic temperature, which in turn reflects core body temperature. The
TM is also immune from the effects of eating, drinking and smoking. A systematic review in the
Cochrane study questions its reliability. It is poor in small infants but useful over the age of 6
months.7 However, some Australian authorities believe that in general practice the benefits of
convenience outweigh the lack of accuracy.8 The normal range is the same as for rectal
temperature.

The same infrared technology is used to measure skin temperature overlying the temporal artery.
This no-touch ‘forehead’ thermometer has markedly increased in popularity since the COVID-19
pandemic.

Digital electronic pacifier (dummy) thermometer

This is a popular method for infants and younger children, favoured by many paediatricians in
the US.
FIGURE 42.1 Rectal temperature measurement in infants
Skin use
Plastic strip thermometers placed on the forehead are very inaccurate and should not be used. Quotidian fever: The fever recurs daily. Morning spikes are characteristic of Pseudomonas
infection (e.g. pulmonary superinfection); afternoon spikes are indicative of cytomegalovirus
infection; and evening spikes suggest localised collection of pus (e.g. empyema of the gall
The clinical approach bladder).

The initial approach is to evaluate the severity of the problem and the nature of the illness. Some Page 513
infections, particularly bacterial infections, are life-threatening and this requires urgent diagnosis
and hospital admission.

According to Yung and Stanley3 it is helpful to consider fever in three categories: less than 3
days duration; between 4 and 14 days duration; and protracted fever (more than 14 days).

Fever of less than 3 days duration

This is very commonly encountered in family practice, often due to a self-limiting viral Page 512
infection of the respiratory tract. It is important, however, to be vigilant for other infections, so
evidence of an infectious disease, urinary tract infection, pneumonia or other infection should be
sought. Where there is no obvious focus of infection, a urine examination, especially in adult
females and children, is an important screening investigation. The majority of patients can be
managed conservatively.

Fever present for 4–14 days

If fever persists beyond 4–5 days a less common infection should be suspected since most
common viral infections will have resolved by about 4 days.3 A careful history is mandatory, as
outlined later in the chapter for fever of unknown origin (FUO). The basic examination and
investigations are along similar lines.

Patterns of fever
The patterns of fever may be of diagnostic help as some febrile conditions follow predictable
temperature patterns (see FIG. 42.2 ).9

Intermittent fever: The temperature rises for a few hours each day and then returns to normal.
Typical of most pyogenic infections, cytomegalovirus and lymphoma.
Relapsing fever: The fever returns to normal for days before rising again. Malaria is the classic
example of periodic relapsing fever: every third day for Plasmodium malariae and every
second day for Plasmodium vivax.
Remittent fever: The temperature returns towards normal for a variable period but is always
elevated. Common examples are larger collections of pus: pelvic abscess, wound infection,
empyema and also carcinoma.
Undulant fever: Bouts of continuous or remittent fever for several days, followed by afebrile
remissions lasting a variable number of days. It is commonly a feature of brucellosis infection
but is also seen in the lymphomas, especially Hodgkin lymphoma where ‘Pel–Ebstein’ fever
lasts 3–10 days followed by afebrile periods of 3–10 days.
Continuous fever: Common with viral infections such as influenza.
 FIGURE 42.2 Examples of fever patterns

Postoperative fever
This is fever occurring within 24 hours after surgery—common with abdominal surgery.

Causes to consider:

pulmonary atelectasis (common)

wound haematoma

deep venous thrombosis

myocardial infarction

allergic drug reaction

transfusion reaction

Septic problems related to the operation usually develop after several days.

Fever in children
In children, most authorities would consider a fever of 38.5°C and above to be significant and
warrant close scrutiny.10

Important causes not to be missed:

urinary infection

meningitis/encephalitis

pneumonia

septicaemia/bacteraemia

osteomyelitis

septic arthritis

pertussis

abscess
The fever is usually a response to a viral infection. Fever itself is not harmful until it reaches a
level of 41.5°C.1 Hyperthermia is uncommon in children. Temperatures above 41°C are usually
due to CNS infection or the result of human error, for example:
shutting a child in a car on a hot day
overwrapping a febrile child
Complications include dehydration (usually mild) and febrile convulsions, which occur in 5% of
febrile children between 6 months and 5 years. Febrile convulsions are triggered by a rapid rise
in temperature rather than its absolute level. They are not prevented by paracetamol or ibuprofen.
Note: Teething does not cause fever.
Approach to the febrile infant
It is important to decide whether the child looks well or seriously ill. Identification of the very ill
child is presented in CHAPTER 89 .
If the child is well and has no risk factors (such as unreliable caregiver, poor access to treatment,
medical risk factors, taking antibiotics) treat expectantly. The only test required is urine
microscopy and culture. Educate the caregiver about review if serious signs develop. Treat the
fever as outlined in TABLE 89.1 , in CHAPTER 89 .
Page 514
Management
Treatment of low-grade fevers should be discouraged.
Treatment of high-grade fevers includes:
treatment of the causes of the fever (if appropriate)
adequate fluid intake/increased fluids
paracetamol (acetaminophen) is the preferred antipyretic since aspirin is potentially
dangerous in young children (use paracetamol if temperature >38.5°C). The usual dose of
10–15 mg/kg every 4–6 hours may represent undertreatment. Use 20 mg/kg as a loading
dose and then 15 mg/kg maintenance
ibuprofen 5–10 mg/kg every 6 hours is a suitable antipyretic
Summary: Tepid sponging for the first 30 minutes combined with paracetamol is preferred
management.
Advice to parents
Dress the child in light clothing (stripping off is unnecessary).
Do not overheat with too many clothes, rugs or blankets.
Give frequent small drinks of light fluids, especially water.
Sponging the forehead with water is optional, but do not immerse in a cold bath.
Febrile convulsions
Refer to CHAPTER 89 .
Fever in the elderly
The elderly tend to have a problem with impaired thermoregulation and so they may not develop
a fever in response to suppurative infection compared with younger people. This can be
misleading in the diagnostic process.
Important facts
Any fever in the elderly is significant.
Viral infection is a less common cause of fever in the elderly.
Fever in the elderly is sepsis until proven otherwise (common sites are the lungs and urinary
tract).
The elderly are more vulnerable to hyperthermia and hypothermia. Heatstroke classically occurs
in epidemic form during a heatwave. The syndrome consists of hyperpyrexia, decreased
sweating, delirium and coma. The core temperature is usually over 41°C.
‘Alarm bell’ signs
In many patients the existence of a life-threatening infective illness is obvious and prompt action
is essential. In others the diagnosis is not clear-cut but there are certain warning signs (see
Red flags box ).
These ‘red flag’ symptoms and signs are obviously super ‘sensitive’. Patients with some of these
features may have potentially life-threatening diseases, but this list would include many with
viral infections. A more targeted subset of this list using specific numerical thresholds is used to
create Early Warning Scores (EWS), variations of which include REWS (Remote—Australia),
MEWS (Modified), NEWS (National—UK) and PEWS (Paediatric).
Fever of undetermined origin
Fever of undetermined origin (FUO), also referred to as pyrexia of unknown origin (PUO), has babies <3 months of age
the following (Petersdorf–Beeson modified) criteria:11
children with fever >40°C
illness for at least 3 weeks
adults >50 years
fevers >38.3°C (100.9°F) on several occasions
people with diabetes
undiagnosed after 1 week of intensive study
the immunocompromised

travellers
Red flag pointers for fever
High fever A diagnostic approach
Repeated rigors A knowledge of the more common causes of FUO is helpful in planning a diagnostic approach
(refer to TABLE 42.1 ).
Drenching night sweats

Severe myalgia (?sepsis) Table 42.1 Diagnostic strategy for fever that is prolonged (FUO)

Severe pain anywhere (?sepsis)

Probability diagnosis
Severe sore throat or dysphagia (?Haemophilus influenzae epiglottitis) Pyogenic abscess (anywhere, e.g. liver, pelvis)
Pneumonia (viral, bacterial, atypical)
Altered mental state
Epstein–Barr mononucleosis
Incessant vomiting Viral upper respiratory tract infection
Urinary infection (incl. chronic pyelonephritis)
Unexplained rash
Serious disorders not to be missed
Jaundice Vascular:
Marked pallor vasculitides (polyarteritis nodosa, giant cell arteritis/polymyalgia)
Infection:
Tachycardia HIV/AIDS
malaria and other tropical diseases
Tachypnoea
zoonoses (e.g. leptospirosis, Q fever, listeriosis)
typhoid/paratyphoid fever
Most cases represent unusual manifestations of common diseases and not rare or exotic diseases. tuberculosis
Examples are tuberculosis, bacterial endocarditis, hepatobiliary disease and lung cancer.12 osteomyelitis
chronic septicaemia/bacteraemia
Keep in mind that the longer the duration of fever, the less likely the diagnosis is to be infectious
—fevers that last greater than 6 months are rarely infectious (only 6%). One study showed that infective endocarditis
9% are factitious.13 Lyme disease
syphilis (secondary)
Patients with FUO in definite need of further investigation are: Page 515
Cancer (up to 30%):
 lymphoma and leukaemia lungs—abnormalities including consolidation, pleuritic rub
solid cancers (e.g. lung, kidney)
abdomen—enlarged/tender liver, spleen or kidney
disseminated
Other: rectal and pelvic examination (note genitalia)
febrile neutropenia
lymph nodes, especially cervical (supraclavicular)
inflammatory bowel disease (e.g. Crohn)
blood vessels, especially of the legs—?thrombosis
Pitfalls (often missed)
Connective tissue disorder (e.g. rheumatoid arthritis, systemic lupus urine (analysis)
erythematosus)
Sarcoidosis
Drug idiosyncrasies
Rarities:
factitious fever

Note: Up to 20% remain unknown.

History
The history should include consideration of past history, occupation, travel history, sexual
history, IV drug use (leads to endocarditis and abscesses), animal contact, medication and other
relevant factors. Symptoms such as pruritus, a skin rash and fever patterns may provide clues for
the diagnosis. The average patient with a difficult FUO needs to have a careful history taken on
at least three separate occasions.14

Examination
A common mistake is the tendency to examine the patient only once and not re-examine. The
patient should be examined regularly (as for history taking) as physical signs can develop
eventually. HIV infection must be excluded. Special attention should be paid to the following
(see FIG. 42.3 ):

skin—look for rashes, vesicles and nodules

the eyes and ocular fundi

temporal arteries

sinuses and ears (canal and TM)

teeth and oral cavity—?dental abscess, other signs

FIGURE 42.3 Sites to consider in FUO
heart—murmurs, pericardial rubs
Investigations15 echocardiography—for suspected endocarditis

FUOs in primary care (not hospitalised) should be investigated as a ‘series’, rather than ordering isotope scanning for specific causes
everything at once in ‘parallel’. Start with a broad brush, then focus in on likely possibilities.
Basic investigations include: aspiration or needle biopsy

haemoglobin, red cell indices and blood film laparoscopy for suspected pelvic infection

white cell count tissue biopsies (e.g. lymph nodes, skin, liver, bone marrow) as indicated

ESR/C-reactive protein FUO in children

chest X-ray and sinus films Fever in children is usually a transient phenomenon and subsides within 4–5 days. At Page 517
least 70% of all infections are viral. Occasionally a child will present with FUO whose clinical
urine examination (analysis and culture) symptoms and signs may be masked from antibiotic administration. Common causes of
prolonged fever in children differ from those in adults. Most cases are not due to unusual or
routine blood chemistry
esoteric disorders,16 the majority representing atypical manifestation of common diseases.
blood cultures
A summary of the common causes (with the most common ranked first) is as follows.16
Further possible investigations (depending on clinical features):
Infectious causes (40%)
stool microscopy and culture Page 516
Viral syndrome
culture of sputum (if any)
Urinary tract infection
specific tests for malaria, typhoid, EBM, Q fever, brucellosis, psittacosis, cytomegalovirus,
toxoplasmosis, syphilis, various tropical diseases and others Pneumonia

NAAT (e.g. PCR) tests Pharyngitis

HIV screening Sinusitis

tests for rheumatic fever Meningitis

tuberculin test Collagen–vascular disorders (15%)

tests for connective tissue disorders (e.g. DNA antibodies, C-reactive protein) Rheumatic arthritis
upper GIT series with small bowel follow-through Systemic lupus erythematosus
CT and ultrasound scanning for primary and secondary neoplasia Rheumatic fever
gall bladder functioning Henoch–Schönlein syndrome
occult abscesses
Neoplastic disorders (7%)
MRI—best for detecting lesions of the nervous system
Leukaemia
 Reticulum cell sarcoma hypotension with two or more of: fever, tachycardia, tachypnoea and elevated
WCC.
Lymphoma
Septic shock Sepsis with critical tissue perfusion causing acute circulatory failure
Inflammatory diseases of the bowel (4%) including hypotension that does not respond to IV fluid administrations and
peripheral shutdown—cool extremities, mottled skin, cyanosis. Consider S. aureus
(food poisoning, tampon use) and S. pyogenes.
Septicaemia
Pyaemia A serious manifestation of septicaemia whereby organisms and
The diagnosis of septicaemia can be easily missed, especially in small children, the elderly and neutrophils undergo embolisation to many sites, causing abscesses, especially in
the immunocompromised, and in the absence of classic signs, which are: the lungs, liver and brain.
fever (± shivering) Primary septicaemia Septicaemia where the focus of infection is not apparent,
while in secondary septicaemia a primary focus can be identified.
muscle pain
Examples of secondary septicaemia in adults are:
rash (suggestive of meningococcus)
urinary tract (e.g. Escherichia coli)
tachycardia
respiratory tract (e.g. Streptococcus pneumoniae)
tachypnoea
pelvic organs (e.g. Neisseria gonorrhoeae)
cool extremities
skin (e.g. Staphylococcus aureus)
Patients with septicaemia require urgent referral as it has a very high mortality rate.17
Investigations should include two sets of blood cultures and other appropriate cultures (e.g. gall bladder (e.g. E. coli, Streptococcus faecalis)
urine, wound, sputum). Empirical initial treatment in adults (after blood cultures) is vancomycin
IV and gentamicin IV.18 Patients with septicaemia require urgent referral.

Glossary of terms
Patient education resources
Bacteraemia The transient presence of bacteria in the blood (usually implies
asymptomatic) caused by local infection or trauma. Hand-out sheets from Murtagh’s Patient Education 8th edition:
Septicaemia (sepsis) The multiplication of bacteria or fungi in the blood, usually Febrile convulsions
causing a systemic inflammatory response (SIRS). SIRS is defined as two or
more of (in adults): Fever

temperature >38°C or <36°C

References
respiratory rate >20/min
1 Sewell J. Fever in childhood. Problems in clinical medicine. Australian Paediatric Review,
heart rate >90/min 1990; 2: 2.
WCC >12 × 109/L or <4 × 109/L 2 Yung AP et al. Infectious Diseases: A Clinical Approach. Melbourne: Self-published,
2001: 13–16.
Severe sepsis Sepsis associated with organ dysfunction, hypoperfusion or
 Yung A, Stanley P. Problems in infectious diseases. In: Kincaid Smith P et al. Problems in Page 519
3 Clinical Medicine. Sydney: MacLennan & Petty, 1990: 326–35.

4 Lipsky BA, Hirshmann JV. Drug fever. JAMA, 1981; 245: 851–4.

5 McPhee S, Papadakis S. Current Medical Diagnosis and Treatment (52nd edn). New
York: The McGraw-Hill Companies, 2013: 1548. 43 Faints, fits and funny turns
6 Craig JV et al. Temperature measurement at the axilla compared with rectum in children
and young people: systematic review. BMJ, 2000; 320: 1174–8.

7 Duce SJ. A systematic review of the literature to determine optimal methods of Page 518
temperature measurement in neonates, infants and children (Cochrane Review). Persons who have had frequent and severe attacks of swooning, without any manifest cause, die
In: The Cochrane Library, 1996: 1–124. suddenly.

8 Nogrady B. Ear temperature readings get green light. Australian Doctor, 30 August, 2002: HIPPOCRATES (?460–377 BCE), APHORISMS, 11, 41
3.
When patients present with the complaint of a ‘funny turn’ it is usually possible to determine that
9 Beck ER, Francis JL, Souhami RL. Tutorials in Differential Diagnosis (3rd edn). they have one of the more recognisable presenting problems, such as fainting, ‘blackouts’,
Edinburgh: Churchill Livingstone, 1995: 209–13. lightheadedness, weakness, palpitations, vertigo or migraine. However, there are some who do
present with confusing problems that warrant the label of ‘funny turn’. The most common
10 Fitzgerald D. Assessing fever in children. Medical Observer, 23 May 2003: 36–7. problem with funny turns is that of misdiagnosis, so it is essential to take a proper and adequate
history.
11 Roth AR, Basello GM. Approach to the adult patient with fever of unknown origin. Am
Fam Physician, 2003; 68: 2223–8. It is important to remember that phrases like ‘funny turn’ or ‘feeling weird’ are ways of
communicating subjective symptoms seen through a particular cultural and linguistic lens, often
12 Papadakis S, McPhee S. Current Medical Diagnosis and Treatment (52nd edn). New
York: The McGraw-Hill Companies, 2013: 1276–8. during times of stress.1 Various causes of faints, fits and funny turns are presented in
TABLE 43.1 . A useful simple classification is to consider them as:
13 Gelfand JR. Fever of unknown origin. In: Braunwald E et al. Harrison’s Principles of
syncope
Internal Medicine (15th edn, Vol. 1). New York: McGraw-Hill, 2001: 805–6.
seizures
14 Braunwald E et al. Harrison’s Principles of Internal Medicine (15th edn). New York:
McGraw-Hill, 2001: 90–106.
sleep disorders—sleep apnoea/narcolepsy/cataplexy
15 Naito T et al. Diagnostic workup for fever of unknown origin: a multicenter collaborative
labyrinthine
retrospective study. BMJ Open, 2013; 3.

16 Tunnessen WW Jr. Signs and Symptoms in Paediatrics (2nd edn). Philadelphia: JB Table 43.1 Faints, fits and funny turns: checklist of causes
Lippincott, 1988: 3–6.

17 Burrell AR et al. Sepsis kills: early intervention saves lives. Med J Aust, 2016; 204: 73. Psychogenic/communication problems
18 Sepsis and bacteraemia [published 2019]. In: Therapeutic Guidelines [digital]. Melbourne: Breath-holding attack
Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed October 2017. Conversion reactions (hysteria)
Culture/language conflicts
Fugue states
Hyperventilation
Malingering lightheadedness, often related to psychogenic factors such as anxiety, panic and
Personality disorders hyperventilation.2 Patients usually call this ‘dizziness’.
Phobia/anxiety states
Absence attacks occur with minor forms of epilepsy and with partial seizures such
Psychoses/severe depression as complex partial seizures.
Other conditions
The psychomotor attack of complex partial seizure presents as a diagnostic
Transient ischaemic attacks and strokes difficulty. The most commonly misdiagnosed seizure disorder is that of complex
Complex partial seizure (temporal lobe epilepsy) partial seizures or variants of generalised tonic–clonic seizures (tonic or clonic or
Tonic, clonic or atonic seizures atonic).
Primary absence seizure The diagnosis of epilepsy is made on the history (or video
Migraine variants or equivalents, e.g. acute confusional migraine electroencephalogram/EEG), rather than on the standard EEG, although a sleep-
Familial periodic paralysis deprived EEG is more effective.
Cardiovascular disorders:
The triad—angina + dyspnoea + blackout or lightheadedness—indicates aortic
arrhythmias stenosis.
Stokes–Adams attacks
postural hypotension Severe cervical spondylosis can cause vertebrobasilar ischaemia by causing
pressure on the vertebral arteries that pass through the intervertebral foramina,
long QT syndrome
especially with head turning or looking up.
aortic stenosis
Vertigo
Drug reaction
Alcohol and other substance abuse
A diagnostic approach
Hypoglycaemia
A summary of the diagnostic strategy model is presented in TABLE 43.2 .
Anaemia
Head injury
Amnesic episodes Table 43.2 Faints, fits and funny turns: diagnostic strategy model
Metabolic/electrolyte disturbances
Vasovagal/syncope Probability diagnosis
Carotid sinus sensitivity Anxiety related/hyperventilation
Cervical spondylosis Vasovagal syncope
Sleep disorders: Postural hypotension
sleep apnoea Breath-holding attacks/febrile convulsions (children)
narcolepsy/cataplexy
Serious disorders not to be missed
Autonomic failure
Cardiovascular:
arrhythmias
aortic stenosis
Key facts and checkpoints postural orthostatic tachycardia syndrome (POTS)
Cerebrovascular:
The commonest cause of ‘funny turns’ presenting in general practice is
TIAs
Neoplasia: Tachycardia
space-occupying lesions
Irregular pulse
Subdural/extradural haematomas
Severe infections: Fever
infective endocarditis Rash
Hypoglycaemia
Drugs: social or prescribed
Pitfalls (often missed)
Atypical migraine Cognitive impairment
Cardiac arrhythmias/long QT syndrome
Confusion: gradual onset
Simple partial seizures
Complex partial seizures
Atypical tonic–clonic seizures
Acute confusional state/delirium
The clinical approach
Drugs/alcohol/marijuana
Electrolyte disturbances (e.g. hypokalaemia) History
Sleep disorders
The clinical history is of paramount importance in unravelling the problem. A reliable eye-
Transient global amnesia
witness account of the ‘turn’ is invaluable, as is the setting or circumstances in which the
Rarities: ‘episode’ occurred.
atrial myxoma
It is essential at first to determine exactly what the patient means by ‘funny turn’. In the Page 520
Seven masquerades checklist process of questioning it is appropriate to evaluate the mental state and personal and
Depression social factors of the patient. It may be appropriate to confront the patient about feelings of
depression, anxiety or detachment from reality.
Diabetes (hypoglycaemia)
Drugs It is important to break up the history into three components. First is the lead-up to the episode;
Anaemia second is an adequate description of what took place during the episode; third are the events that
Spinal dysfunction (cervical spondylosis) took place after the episode.

Is the patient trying to tell me something?
Highly likely. Pseudo-seizures, psychogenic and ‘communication’ disorders quite
significant.
Red flag pointers for faints, fits and funny turns
Onset in older person
Apart from the events, note the patient’s feelings, symptoms, circumstances and provocative
factors. Search for possible secondary gain.
Onset
A sudden onset may be due to cardiovascular causes, especially arrhythmias, which may include
the more common supraventricular tachycardias in addition to the less common but more
dramatic arrhythmias that may cause unconsciousness. Other causes of a sudden onset include
the various epilepsies, vasovagal attacks and TIAs.
Page 521

Neurological symptoms and signs Precipitating factors2

Headache Enquire about precipitating factors such as emotion, stress, pain, heat, fright, exertion, suddenly
standing up, coughing, head movement or hypersomnolence: Antihypertensives
Barbiturates
emotion and stress suggest hyperventilation
Benzodiazepines
fright, pain → vasovagal attack Opioids
OTC anticholinergic compounds
standing up → postural hypotension
Peripheral vasodilators:
exertion → aortic stenosis ACE/ARB inhibitors
glyceryl trinitrate
head movement → cervical spondylosis with vertebrobasilar insufficiency
hydralazine
hypersomnolence → narcolepsy prazosin
Phenoxybenzamine
Associated symptoms2 Antidepressants
Certain associated symptoms give an indication of the underlying disorder:

breathing problems and hyperventilation suggest an anxiety state

Table 43.4 Important causes of convulsive
tingling in extremities or tightening of the hand → anxiety/hyperventilation seizures
visual problems → migraine or TIA
Epilepsy:
fear or panic → anxiety or complex partial seizure (or realistic fear) first presentation
hallucinations (taste/smell/visual) → complex partial seizure known epilepsy with recurrence
Cerebral hypoxia
speech problems → TIA or anxiety Hypoglycaemia
sweating, hunger feelings → hypoglycaemia Poor cerebral perfusion:
oedema of eclampsia
related to food → migraine
Neurotrauma
first thing in morning → consider ‘hangover’ Cerebrovascular accident
CNS infections:
Drug history meningitis
This requires careful analysis and includes alcohol intake and most illicit drugs, including encephalitis
marijuana, cocaine and amphetamines. Prescribed drugs that can cause lightheadedness or septicaemia
unconsciousness are listed in TABLE 43.3 and those causing seizures in TABLE 43.4 . septic emboli
cerebral abscess
Table 43.3 Toxins
Typical drugs that may cause
lightheadedness or blackouts Alcohol excess
Hyperthermia
Alcohol Metabolic disorders
Anti-epileptics Drugs:
 antidepressants If the person is currently well and asymptomatic, a number of manoeuvres can try to induce
theophylline various sensations in order to identify the one that affects them. These include sudden
assumption of the erect posture from a squat, spinning around and then a sudden stop, head
amphetamine
positioning with either ear down (see FIG. 35.3 , CHAPTER 35 ), Valsalva manoeuvre and
antibiotics, e.g. norfloxacin, ciprofloxacin hyperventilation for 60 seconds. Children blowing hard on a toy windmill mimics
cocaine hyperventilation. Ask ‘Which one mimics your complaint?’
local anaesthetics
Anaphylaxis Investigations
Expanding brain lesion:
Depending on the clinical findings, investigations can be selected from the following tests:
neoplasm
haematoma full blood count: ?anaemia ?polycythaemia

blood sugar: ?diabetes ?hypoglycaemia

Sudden cessation of certain drugs such as phenothiazine antipsychotics can also be responsible metabolic studies: urea and electrolytes, calcium, magnesium
for ‘funny turns’.
ECG: ?ischaemia ?arrhythmia
Past history
24-hour ambulatory cardiac (Holter) monitor: ?arrhythmia
The past history may give an indication of the cause of the ‘turn’. Such conditions include
hypertension, migraine, epilepsy, rheumatic heart disease, diabetes, atherosclerosis (e.g. angina, radiology/imaging and neuroimaging:
vascular claudication), alcohol or other substance abuse and psychiatric disorders.
cervical X-ray
Diary of events
chest X-ray
If the diagnosis is elusive it may help to get the individual to keep a diary of circumstances in
carotid duplex Doppler scan: ?carotid artery stenosis
which events take place, keeping in mind the importance of the time period prior, during and
post episode. CT scan
Page 522
MRI scan
Examination
EEG or video EEG; include those recorded with sleep deprivation, hyperventilation or photic
Important focal points of the physical examination include: stimulation

evaluation of the mental state, especially for anxiety positron emission tomography (PET) or single photon emission computerised tomography
(SPECT) may show localised brain dysfunction when others are negative
looking for evidence of anaemia, alcohol abuse and infection

cerebrovascular examination: carotid arteries, ocular fundi, bruits

In neonates and children
cardiovascular examination: pulses, BP, heart (the BP should be taken lying and standing) The various forms of seizures are also encountered in childhood, when most epilepsy is first
diagnosed. Seizures can be categorised as subtle (staring, eye deviation, abnormal sucking or lip
the cervical spine smacking) or tonic and clonic. Benign sleep myoclonus occurs in infants normally only during
sleep and usually resolves by 2 months of age. It is appropriate to take a visual recording of the
Various manoeuvres attack.3
Neonatal seizures are dangerous and require specialised care to identify the cause and quickly
stop the seizure. Pyridoxine may be used.
Epilepsy syndromes in children
The following are particular age-related epilepsy syndromes seen in children.4,5
Febrile seizures
Tonic–clonic seizures occur in 2–5% of children usually aged 3 months to 6 years who have a
high fever generally caused by a viral infection. The long-term prognosis is good. For seizures
lasting more than 5 minutes, use midazolam or diazepam.
Infantile spasms
Also known as West syndrome or Salaam attacks, these are generalised tonic seizures with
sudden flexion of the arms, forward flexion of the trunk and extension of the legs, lasting only a
few seconds, with the usual age of onset between 4 and 12 months. They are usually restricted to
the first 3 years of life and are replaced by other forms of attacks. ECG shows typical
hypsarrhythmias. Prognosis for cognitive development is unfavourable. The most effective
therapy is corticotrophin (ACTH), e.g. tetracosactrin IM injection. Otherwise, oral prednisolone,
vigabatrin, benzodiazepines or sodium valproate can be used.
Lennox–Gastaut syndrome (myoclonic epilepsy of
infancy)
This uncommon syndrome refers to a triad of severe difficult-to-control seizures (usually tonic
with drop attack), intellectual disability and characteristic EEG. The seizures usually begin
between the ages of 1 and 6 years, with a peak onset at 3–5 years. Prognosis is poor. Sodium
valproate is the therapy of choice.
Benign focal childhood epilepsy with centrotemporal
spikes
This disorder usually begins in children aged 2–13 years, with a peak age of 5–8 years. Page 523
It is the most common form of childhood focal epilepsy, and there is a strong family history of
epilepsy. The main feature is a simple partial motor or somatosensory seizure involving the face
and mouth during sleep, producing a typical ‘glugging’ sound. The child usually wakes from
sleep, goes to the parents and is unable to speak and has hemifacial contortions. It may progress
to a tonic–clonic seizure. There is a characteristic EEG pattern. The prognosis is excellent as
remission usually occurs around puberty. Carbamazepine is the therapy of choice.
Childhood and juvenile absence epilepsy
These children present with frequent absence seizures (formerly ‘petit mal’), often over a
hundred daily. Peak age of onset is 4–9 years. The absence seizures can be very subtle. Signs
include alteration of awareness (usually in the classroom), sudden onset, facial and other
automatisms. Juvenile absence epilepsy presents later (10–15 years). First-line treatment is
ethosuximide (best tolerated) or sodium valproate.
Juvenile myoclonic epilepsy (myoclonic epilepsy of
Janz)
This is a triad of seizures: myoclonic jerks, tonic–clonic seizures and absences. Onset is around
puberty but may occur earlier. The myoclonic jerks and tonic–clonic seizures usually occur in
the early morning after waking. Intellectual development is usually as normal, but the disorder is
generally lifelong and is well controlled with sodium valproate.
Medial temporal lobe epilepsy
This syndrome of complex partial seizures, which usually last 1–3 minutes, is seen in childhood.
Transient postictal confusion and speech dysfunction is common. Those with medically
intractable seizures respond well to surgery.
Dravet syndrome
Known as severe myoclonic epilepsy of infancy, it is a catastrophic form with a very poor
prognosis. It is largely inherited. Early diagnosis and treatment are essential.
Non-epileptic events resembling epileptic seizures in
children4
Many normal and abnormal behaviours seen in children resemble seizures but are unrelated to
epilepsy. A careful history is very important. The following are examples:
Postures of spasticity and movement disorders. These occur in children with neurological
disorders such as cerebral palsy.
Syncope. The child may describe a ‘sinking feeling’, or ‘everything getting louder’ prior to the
loss of consciousness.
Breath-holding. This often occurs after a crying spell and clonic movements may be seen at
the end of the event.
Masturbation. This behaviour leads to a tonic-like posture of the legs and preoccupation,
especially in young girls.6
Munchausen by proxy.7 This syndrome of fictitious epilepsy described by a parent is
becoming more recognised.
 Psychogenic seizures (pseudo seizures). A diagnostic dilemma exists when these coexist with the patient’s history (e.g. family history, toxin exposure, accidents, febrile convulsions,
genuine seizures. These should be suspected when they occur in particular circumstances and eclampsia)
the description of the ‘seizure’ is bizarre.
the observation of a witness to the seizure
Shuddering. Shuddering or shivering spells can resemble myoclonic jerks.
a general and neurological examination
Night terrors.8
These episodes, which usually affect children aged 2–4 and 6–9, generally
develop within 2 hours of sleep onset and last 1–2 minutes (sometimes longer). They are an EEG, although this has considerable limitations
alarming and the child usually cannot be reassured or settled. A 6-week trial of phenytoin or
imipramine can be used for severe problems. a CT scan or preferably MRI (especially if the EEG is focal and a tumour is suspected)

Tics. Motor tics can be quite complex but are usually brief involuntary movements involving Long-term ambulatory EEG recording now provides more information and, coupled with video
the face and upper limbs. monitoring, provides a permanent record of the seizure which can be reviewed at will. The CT or
MRI scan is necessary to exclude a focal cause (such as a cyst, tumour, malformation or abscess)
Cardiac causes. For example, long QT syndrome. which might be treatable by surgery. The MRI scan can indicate developmental migration
disorders.

Blackouts
The important causes of blackout include the various syncopes that are listed in TABLE 64.4
(see CHAPTER 64 ) and the various forms of epilepsy. Epileptic seizures are the commonest
cause of blackouts.
The scan may identify mesotemporal sclerosis (an abnormality in the hippocampus due to birth
hypoxia), thereby making some ‘idiopathic’ seizures into secondary seizures from a known
cause.
Epilepsy usually starts in early childhood.

Important causes of convulsions (tonic–clonic seizures) are listed in TABLE 43.4 . Optimal management includes adequate psychosocial support with education, counselling,
advocacy and appropriate referral. Advice about appropriate lifestyle using the NEAT approach
(see CHAPTER 5 ) is important.
Epilepsy
An underlying organic lesion becomes more common in epilepsy presenting for the first time in
Epilepsy is defined as a ‘tendency to recurrence of seizures’. It is a symptom, not a Page 524 adults over the age of 25 years, and thus more detailed investigation is required.9
disease. A person should not be labelled as having epilepsy until at least two attacks have
Secondary causes of seizures include:
occurred.9 Epilepsy is common. Prevalence depends on definition, and is often quoted as 1 in 30
or 50, but a 2017 systematic review found an overall lifetime prevalence of 0.0076 (1 person in
intracerebral tumours
130).10 It affects both sexes almost equally, with increased rates at the extremes of young and old
age. Some forms run in families. trauma—head injuries
The most important factors in the management of epilepsy are the accurate diagnosis of the type postcerebral surgery
of seizures; identification of the cause and appropriate investigation; the use of first-line drugs as
the sole therapy of some weeks; and adjustment of the dose, according to clinical experience and metabolic (e.g. calcium and sodium electrolyte disturbances, hypoglycaemia, uraemia, hepatic
plasma levels, to give maximum benefit. failure)

Once epilepsy is diagnosed, the long-term prognosis falls into three broad categories: drugs and other toxins (e.g. alcohol, amphetamines including withdrawal)
spontaneous remission (20–30%), remission with treatment (20–30%) or continuing seizures
(30–40%).11 intracerebral infections (e.g. meningitis, cysticercosis-specific refugees)

To be accurate in diagnosing seizures the diagnosis must be based on:12 autoimmune encephalitis (CHAPTER 20 )

the patient’s memory of the seizure vascular—cerebrovascular, arteritis, hypertension

 eclampsia with psychic symptoms

MELAS syndrome (CHAPTER 23 ) Complex partial (consciousness impaired)

hypoxia Page 525

degenerative diseases Generalised seizures

sleep deprivation
prescribed drugs, including antidepressants (e.g. SSRIs, TCAs, venlafaxine, mirtazapine),
antibiotics (e.g. norfloxacin, ganciclovir, isoniazid), amantadine, antipsychotics, chloroquine,
interferons, pizotifen, promethazine, theophylline
Generalised seizures arise in both cerebral hemispheres simultaneously from the outset. The
seizure may be primary with generalised onset (no focus), or secondary, which starts focally and
spreads to become secondary and may be due to acquired cerebral pathology.
The main features are:

Types of epileptic seizures/syndromes abrupt impairment or loss of consciousness

Epileptic seizures are classified in general terms as generalised and partial (see TABLE 43.5 ). possible bilateral symmetrical motor events
Some others are unclassifiable. Partial seizures are about twice as common as generalised
seizures and are usually due to acquired pathology.12 Types
Tonic–clonic (formerly called grand mal) seizure: this is the classic convulsive seizure with
Table 43.5 Classification of epileptic seizures12 muscle jerking

Tonic seizure: stiffness only, often with a ‘drop’ (hallmark of Lennox–Gastaut syndrome)
1 Generalised seizures
Motor—convulsive: Clonic seizure: jerks only

tonic–clonic (previously called grand mal) Atonic seizure: loss of tone, and ‘drops’
clonic
Absence seizure (formerly called petit mal): involves loss of consciousness with no or only
myoclonic
very minor bilateral muscle jerking, mainly of the face12
secondary generalised
Motor—non-convulsive: Myoclonic seizure: bilateral discrete muscle jerks, which may be very severe, and loss of
tonic (drop attacks) consciousness
atonic (drop attacks)
Non-motor (absence):
Tonic–clonic seizures
typical absence—childhood (petit mal) and juvenile The classic seizure sequence: aura—cry—fall—fit (clonic then tonic)—incontinence.
atypical absence
Variants of tonic–clonic seizures are more common than realised. Some individuals may simply
eyelid myoclonia
stiffen or drop to the ground while others may have one or two jerks or shakes only:
2 Focal (partial) seizures
stiffen and fall = tonic
Simple partial (consciousness retained):
with motor signs (Jacksonian) floppy and fall = atonic
with somatosensory symptoms shaking only = clonic
The typical features (in sequential order) of a tonic–clonic convulsion are:12 adults: 500 mg (o)/d for 1 wk, then bd for 1 wk ↑ every 2–4 wks to achieve control (up to 2–3
g/d)
aura (sensory or psychological feelings)
Some prefer carbamazepine or lamotrigine in young women because of risk of teratogenicity
initial rigid tonic phase (up to 60 seconds) with valproate, which, however, is less sedating.

convulsion (clonic phase) (seconds to minutes) Carbamazepine (second choice)

mild coma or drowsiness (15 minutes to several hours)—postictal confusion Other choices: phenytoin, lamotrigine, topiramate, levetiracetam (usually added on to achieve
optimal control—check interactions)
Associated features:
Continue treatment until fit-free for at least 2 years. Avoid use of prochlorperazine and
cyanosis, then heavy ‘snoring’ breathing benzodiazepines. Monitor with annual LFTs and FBE.
eyes rolling ‘back into head’ The management of status epilepticus is presented in CHAPTER 120 .
± tongue biting
Absence seizure
± incontinence of urine or faeces
This type of generalised epilepsy typically affects children from 4 years up to puberty:2
It should be noted that sphincter incontinence is not firmly diagnostic of epilepsy. In less severe
episodes the person may fall without observable twitching of the limbs.12 child ceases activity and stares suddenly

In atonic epilepsy, which occurs in those with tonic–clonic epilepsy, the person falls to the child is motionless (may blink or nod)
ground and is unconscious for only a brief period.
no warning
Diagnosis sometimes clonic (jerky) movement of eyelids, face, fingers

Check short-term aggravating factors (e.g. lack of sleep, medications, drugs inc. alcohol) may be lip-smacking or chewing (called complex absence)

Investigate and treat any cause. Usual tests—EEG, CT or MRI (preferable) scan, basic only lasts few seconds—usually 5–10 seconds
biochemistry and haematology
child then carries on as though nothing happened
Management usually several per day (not just one or two)
Note: Do not usually treat on one fit. Refer to FIGURE 43.1 . may lead to generalised seizures in adulthood
Profound psychosocial support two types—childhood and juvenile
Education, counselling, advocacy Page 526

Appropriate referral Diagnosis

Best evoked in the consulting room by hyperventilation (child—blow a toy windmill).
Medication
EEG:
sodium valproate (first choice for tonic–clonic)
classic 3 Hz wave and spike
 may be normal fasting glucose

always include hyperventilation EEG (usually with sleep deprivation)

easier with sleep deprivation syphilis serology

Medication Other tests may include:

ethosuximide (first choice)5,13 chest X-ray

or ECG (?↑ QT interval)

sodium valproate (second choice) video EEG (limited mainly to frequent seizures or to diagnostic dilemmas)

or (others) e.g. clonazepam, gabapentin MRI

Childhood absence may not need pharmacotherapy. CT scanning (if MRI unavailable)

Note: Beware of hepatoxicity with sodium valproate, especially in those under 2 years. other cerebral imaging (e.g. SPECT and PET)

The first seizure
The decision to treat the first seizure with medication is based on several factors. Since 50% of
patients will never have another seizure, treatment is not usually recommended. However, if two
or more seizures occur over more than 24 hours, patients are likely to experience more and
require treatment. The risk is increased in specific types, such as partial (focal) seizures, those
with ECG abnormalities and a lesion on neuroimaging.5,14
Partial seizures
In partial seizures the epileptic discharge begins in a localised focus of the brain and then spreads
out from this focus. The clinical pattern depends on the part of the brain affected:
A person presenting with the first seizure after the age of 25 years will require more detailed
investigation.
Complex partial seizures
In complex partial seizures (known also as temporal lobe epilepsy) the symptomatology varies
considerably from patient to patient and is often a diagnostic problem. It is the commonest type
of focal epilepsy and the attacks vary in time from momentary to several minutes (usually 1–3
minutes).
Possible manifestations2
Commonest: slight disturbance of perception and consciousness

simple partial seizures: consciousness is retained Hallucinations: visual, taste, smell, sounds

complex partial seizures: consciousness is clouded so that the patient does not recall the Absence attacks or vertigo
complete seizure
Illusions—objects/people shrink or expand
Both these types of partial seizure can evolve into a bilateral tonic–clonic seizure; this is termed
a secondary generalised seizure and is usually due to diffuse brain pathology.9 Affective feelings—fear, anxiety, anger

Dyscognitive effects: déjà vu (familiarity), jamais vu (unreality), waves emanating from

Investigations epigastrium
Standard minimum investigations are:
Objective signs: lip-smacking, swallowing/chewing/sucking, unresponsive to commands or
questions, pacing around a room
serum calcium, magnesium and electrolytes
 Postictal drowsiness or (others)

Unreal or detached feelings are common in complex partial seizures. There can be permanent
short-term memory loss. The sensation of strange smells or tastes is more common than auditory
or visual hallucinations.1 They can progress to tonic–clonic seizures.
Diagnosis
EEG is diagnostic in 50–60% of cases; a repeat
EEG will increase rate to 60–80%
EEG/video telemetry helpful with frequent attacks
CT or MRI scan—to exclude tumour when diagnosis confirmed
phenytoin, vigabatrin, gabapentin
The single unprovoked seizure: to treat or not15
Starting drugs after a single afebrile seizure can be a difficult decision. It basically depends on
the EEG findings and also on whether the impact of further seizures outweighs the risk of
treatment. If not treated, the risk of recurrence over a 3-year period is 40% with a risk of
approximately 25% if treated.5 The lowest recurrence rates are associated with a normal EEG.
Drug therapy should be offered to the patient following two or more seizures within 6–12
months except when there is a clear avoidable precipitant.

Medication Approaches to management

carbamazepine (first choice):5,9 children and adults Shared care between GP and consultant is optimal management.

or An accurate diagnosis of the seizure type is essential.

sodium valproate (second choice): not <2 years An underlying brain disease has to be investigated and treated.

or (others) Treatment is based on drugs and lifestyle management. Alcohol abstinence is preferable.

vigabatrin, phenytoin, phenobarbitone, tiagabine, benzodiazepines, ethosuximide, Aim for monotherapy.

levetiracetam
A decision has to be made about whether drug therapy is appropriate. Pharmacotherapy should
Page 527 be offered if the patient has had two or more seizures within 6–12 months.5,16 Treatment is
usually commenced after the second seizure. Most seizures require long-term anti-epileptic
Simple partial seizures (anticonvulsant) drug therapy aimed at suppressing the underlying seizure activity in the hope
that it may subside, so that ‘cure’ ultimately occurs and treatment may be ceased. A summary
In simple partial seizures (Jacksonian epilepsy) there is no loss of consciousness. These include
of anti-epileptic drugs is presented in TABLE 43.6 .
focal seizures, which may proceed to a generalised tonic–clonic seizure or to motor seizures.
The choice of drug depends on the seizure type, the age and sex of the patient, and efficacy in
Jacksonian (motor seizure) relation to toxicity.

Typically, jerking movements begin at the angle of the mouth or in the thumb and index finger
and ‘march’ to involve the rest of the body (e.g. thumb → hand → limb → face ± leg on one side
and then on to the contralateral side). A tonic–clonic or complex partial seizure may follow.
Medication
Treatment should be initiated with one drug and pushed until it controls the events or causes
side effects, irrespective of the medication blood level. The disorder can usually be controlled
by one drug, provided adequate serum or plasma concentrations are reached.16 Seventy to
eighty per cent of people will have no seizures after treatment with a first-line drug.
If a maximum tolerated dosage of this single drug fails to control the seizures, Page 528

carbamazepine (first choice):5 children and adults replace it with an alternative agent with a different action. Add the second drug and
obtain a therapeutic effect before removing the first drug.
or
An example of an initial drug regimen in a young man with idiopathic generalised tonic–
sodium valproate (second choice) not <2 years clonic seizures is: valproate 500 mg (o) daily for 2 weeks, then bd, up to 3 g or more per day.
 If not controlled, second-line (add on): lamotrigine 12.5 mg (o) once daily for 2 weeks, Tiagabine
increasing up to 100 mg.
Topiramate
Pay special attention to the adverse psychological and social effects of epilepsy. Emotional Vigabatrin
and social support is important and advice about epilepsy support groups is appropriate.
Zonisamide
Cannabinoids (evidence is emerging, e.g. Dravet syndrome)
Table 43.6 Anti-epileptic drugs

The following anti-epileptic drugs are used A flow chart for the initial management of epilepsy is presented in FIGURE 43.1 .

Benzodiazepines:
clobazam
clonazepam
diazepam
midazolam
nitrazepam
Carbamazepine
Tetracosactrin
Phenobarbitone and related drugs:
methylphenobarbitone
primidone
Phenytoin
Sodium valproate (valproate)—avoid in reproductive phase. If necessary, ensure
adequate contraception.
Succinimides:
ethosuximide
Newer drugs (mainly as ‘added on’ therapy)
Gabapentin
Lacosamide
Lamotrigine
Levetiracetam
Oxcarbazepine
FIGURE 43.1 Initial management of epilepsy
Perampanel
Source: Adapted with permission from Choosing an antiepileptic drug [published 2017 Nov; amended 2021 Mar]. In: Therapeutic
Pregabalin Guidelines [digital]. Melbourne: Therapeutic Guidelines Limited; 2015 Mar. www.tg.org.au

Sulthiame
Cessation of drug therapy
It is important to review the need for anti-epileptics every 12 months. The only way to find out if
drug therapy is still needed is to withdraw it. It may be ceased if the patient has been free of
seizures for at least 2–3 years, particularly if epileptiform activity has disappeared from the EEG
(best under specialist supervision). Up to 60% of children have a mild, self-limiting condition
and can settle after medication is withdrawn. It is usual to wean children off drugs after 2–3
years (seizure free) and advise about buccal midazolam in the event of a seizure.
Patient education
The following points are worth emphasising.
Most patients can achieve complete control of seizures, but medication compliance is
essential.
work close to heavy machinery, in dangerous surroundings, at heights (such as climbing ladders)
or near deep water. Careers are not available in some services, such as the police, military,
aviation (pilot, traffic controller) or public transport (e.g. bus driver).
Sport and leisure activities
Most activities are fine, but people with epilepsy should avoid dangerous sports such as scuba
diving, hang-gliding, parachuting, rock climbing, car racing and swimming alone, especially
surfing.
TABLE 43.7 outlines contraindications for sporting activities. These apply to patients who
suffer from very frequent seizures, especially the complex partial seizures with prolonged
postictal states.16

Most people lead a normal life—they can expect to marry, have a normal sexual life and have
normal children. Table 43.7 Sporting activities: contraindications18

Patients need good dental care, especially if taking phenytoin.

Absolute contraindications
A seizure in itself will not usually cause death or brain damage unless prolonged or in a risk Flying and parachuting
situation such as swimming.
Motor racing
Patients cannot swallow their tongue during a seizure. Mountain and rock-climbing
Take special care with open fires. High diving
Scuba diving
Encourage patients to cease intake of alcohol. Intoxication is very harmful.
Underwater swimming, especially competitive
Adequate sleep is important. Deprivation is harmful. Hang-gliding
Avoid fatigue. Abseiling

Advise showering in preference to bathing. Relative contraindications

Aiming sports such as archery and pistol shooting
Driving Contact sports such as boxing, rugby, football, including soccer, where heading the
ball is involved
One has to be very careful about driving. Most people with epilepsy can drive but each case has
Competitive cycling for children with absence epilepsy
to be considered individually. Applicants for a learner’s licence need to be seizure-free for 2
years (varies between states/territories), with an annual medical review for 5 years following Bathing and swimming
receipt of the licence. Restrictions range from 1 month to 2 years, depending on the Gymnastics, especially activities such as trampolining and climbing on bars
circumstances of the seizures. For a new patient the usual rule is suspension of driving until 3–6
months seizure free.17 Ice skating and skiing
Javelin throwing
Employment
People with epilepsy can hold down most jobs, but if liable to seizures they should not Page 529
Avoid trigger factors
 Fatigue
Pregnancy and epilepsy16,19
Lack of sleep
Pregnancy is associated with a 30% increase in seizures. Although the outcome is successful for
Physical exhaustion more than 90% of women with epilepsy, there is a slightly increased risk of prematurity, low
birthweight, mortality, defects and intervention. About 45% of women have an increased number
Stress of seizures, due mainly to a fall in anti-epileptic drug levels.
Excess alcohol All anti-epileptic drugs are potentially teratogenic, with different drugs being related to different
defects: phenytoin has been related to cleft lip and palate and congenital heart disease, while
Prolonged flashing lights if photosensitive (e.g. video games—this applies to those with a sodium valproate (in particular) and carbamazepine have been associated with spina bifida.
proven response to a proper EEG with photic stimulation) Sodium valproate should be avoided unless other drugs are unlikely to prevent seizures. All anti-
epileptic drugs are expressed in breast milk but in such reduced concentrations as not to preclude
Epilepsy in children breastfeeding, although it is preferable for mothers taking lamotrigine and levetiracetam to
abstain from breastfeeding.20

Single (first) episode tonic–clonic seizure in school-aged Page 530

child Neurosurgical treatment

1. Take a comprehensive history: family history, past history, developmental history, any loss of
skills, recent head injury, headache, drowsiness, dizziness, recent school performance
2. Investigations:
biochemistry (glucose, electrolytes incl. Ca++, Mg++)
Surgical techniques are based on resection such as for temporal lobe epilepsy for a highly select
group of patients and also on disconnection techniques. The latter includes corpus callosotomy,
multiple subpial transection, hemispherectomy and vagal nerve stimulation. The treatments are
limited to a select group with poorly controlled seizures who require detailed evaluation in a
specialist centre.

ECG (?QT interval)

Pitfalls in management of epilepsy5
EEG (specialist input)

Imaging—brain CT or MRI
Misdiagnosis
3. Management: The main pitfall associated with seizure disorders and epilepsy is misdiagnosis. It should be
realised that not all seizures are generalised tonic–clonic in type. The most common
Reassure may be one-off event misdiagnosed seizure disorders are complex partial seizures (an underdiagnosed disorder) or the
tonic or atonic seizures.
Usually no medication
The diagnosis of epilepsy is made on the history rather than the EEG so a very detailed
If recurs, start sodium valproate (see FIG. 43.1 ) description of the events from eyewitnesses is important.

Photosensitive epilepsy in children
Some children suffer from photosensitive epilepsy related to exposure to computer and video
games and 3D television. There is some evidence that such children may not have seizures if
they keep one eye covered. If television provokes seizures, strategies such as watching it with
ambient lighting and using the remote control rather than approaching the set will minimise the
problem.
The features of complex partial seizure (described in earlier in the chapter) have many variations,
the commonest being a slight disturbance of perception or consciousness. The complex partial
seizure may evolve to a generalised tonic–clonic seizure. A simple partial seizure may also do
this.
In tonic–clonic seizures the patient may become momentarily rigid or fall to the ground and
perhaps have one or two jerks only.
Misdiagnosing behavioural disorders Other features:

It is important to differentiate between a fit and a behavioural disorder, but it can be difficult. onset in teens or 20s
About 20% of apparently intractable ‘seizures’ are considered to be non-epileptic
(pseudoseizures, i.e. emotionally based).20 These often resemble tonic–clonic seizures but can have several attacks per day
usually there are bizarre limb movements. Ancillary testing, especially with video EEG
Refer to CHAPTER 60 .
recording, can help overcome these diagnostic problems but the differentiation may be difficult
as the most common situation for pseudoseizures is in the person who has real fits.
Diagnosis
Overtreatment A clinical diagnosis
Polypharmacy If doubtful:

Polypharmacy may be counterproductive for the patient and the seizure disorder. This is EEG monitoring
especially applicable to drugs with a high incidence of side effects. If a patient is taking several
medications, management of the case needs questioning and perhaps reconsidering with a sleep laboratory studies (sleep latency test)—rapid eye movement is a hallmark
consultant’s help.
Page 531
Seizure control may be improved by reducing polypharmacy. When initiating treatment it is best
to select one drug and increase its dose until its maximum recommended level, the onset of side
Medication21
effects or appropriate control. If control is not obtained, the drug should be replaced with an dexamphetamine (in slowly increasing doses to 60 mg daily)
alternative agent but a crossover period is essential. Monotherapy is preferred but combination
therapy is often acceptable. or

Prolonged treatment methylphenidate (immediate release) up to 60 mg daily

The question should be asked at some stage ‘Does this patient really need medication?’ Some
patients are kept on anti-epileptics for too long without any attempt being made to wean them off
medication or to transfer them onto anti-epileptics less prone to side effects. Patients should not
be left on inappropriate drugs, especially if side effects and drug interactions are a problem.
Drug interactions
Drug interactions with anti-epileptics should always be kept in mind. The most serious of all is
the interaction with the oral contraceptive pill because pregnancy can occur. Erythromycin and
carbamazepine interact.
Narcolepsy
Narcolepsy is characterised by brief spells of irresistible sleep during daytime hours, usually in
inappropriate circumstances, even during activity. Its cause is unknown. Although patients are
usually aware of their disorder, some may have no insight into the problem and present with the
complaint of unusual turns. Narcolepsy can present as ‘attacks’ in which the patient may crumple
and fall without losing consciousness. It can be part of a tetrad syndrome (daytime
hypersomnolence, cataplexy, hypnagogic and hypnopompic hallucinations, sleep paralysis).
or
modafinil 200–400 mg (o) daily
or
tricyclic antidepressants (e.g. clomipramine, imipramine, fluoxetine), for associated cataplexy
Amnesic episodes
Amnesic episodes in which people cannot recall events or their own identity can be psychogenic
(commonly), such as fugue states, conversion disorder, severe depression and factitious states.
They may be related to an organic problem such as epilepsy, sleep apnoea, cerebrovascular
disorder, post-trauma, Wernicke–Korsakoff syndromes and drugs (e.g. alcohol, cannabis and
anaesthetic agents).
Transient global amnesia5,22,23
This is a benign, self-limited profound amnesic episode of unknown aetiology tending to occur
in middle-aged or elderly people. Proposed causation includes transient ischaemia or dysfunction
of the temporal lobes, similar to temporal lobe epilepsy or a migraine variant.
Clinical features
Typically last 4–8 hours (up to 24 hours)
Cerebrovascular disease is one of the major causes of mortality and morbidity in developed
countries and can cause recurrent attacks of ischaemia in the carotid and vertebrobasilar systems
(particularly vertebrobasilar insufficiency), which may present as ‘funny turns’. In particular,
brain-stem ischaemia causes ‘funny turns’ such as impaired consciousness, including transient
global amnesia, drop attacks and the ‘locked-in’ syndrome.

Identity and conscious state preserved

Orthostatic intolerance and syncope
Agitated, perplexed, anxious There are three main syndromes of autonomic instability with orthostatic intolerance leading to
syncope.
State of bewilderment (e.g. ‘where am I?’)
1. Reflex (vasovagal) syncope. This affects 30% of the population, has a strong family history
Anterograde and retrograde amnesia and an onset in the young. There is a hypotensive response. The multiple precipitants include
coughing, micturition, fright, standing, heat and defecation (straining). Although
Frequent repetition of questions consciousness quickly returns, recovery can be delayed (e.g. malaise for 12–24 hours). See
CHAPTER 64 .
Able to perform complex motor skills (e.g. driving)
2. Postural orthostatic tachycardia syndrome (POTS).24 This is orthostatic intolerance with
Usually single episode (20% recurrence) dysautonomia upon changing from the supine to the upright position or head up tilt.
Tachycardia with decreased ventricular filling is a feature with hypotension and possibly
Complete resolution: good prognosis syncope. There are myriad symptoms including dizziness, fatigue, blurred vision, chest pain
and cognitive impairment. It is sometimes found while investigating chronic fatigue
No abnormal neurological signs
syndrome. It has an adolescent onset and a familial history. Referral to a ‘syncope’ unit is
All investigations unhelpful recommended for this complex and debilitating condition. One treatment option is
fludrocortisone acetate. Another is the vasopressor/hypertensive agent midodrine to treat
dysautonomia and orthostatic hypotension.
Four diagnostic criteria (Caplan)14
3. Autonomic failure. This is age related and can be primary (e.g. multiple system atrophy) or
Witnessed onset of attack (essential for diagnosis) secondary (e.g. diabetes, amyloid). It leads to hypoperfusion syncope. Precipitants include
orthostasis, meals and alcohol. Recovery from syncope is rapid.
Dysfunction during attack limited to amnesia and repetitive queries
Page 532
No other neurological features
Psychogenic or communication disorders
Memory loss should be transient, lasting no longer than 24 hours
Psychogenic causes have to be considered. ‘Hysterical fugue’ is one such manifestation. The
Management problem can be a communication disorder, such as an emotional person trying to communicate a
problem in a language foreign to them.
Reassuring explanation/education
Patients with psychiatric disorders such as schizophrenia or depression may experience feelings
Special investigations, including angiography, not needed if conform to above criteria of depersonalisation or unreality, which can be interpreted as a ‘turn’ or even temporal lobe
epilepsy.
No active treatment usually needed
Patients who complain of vague and bizarre symptoms, such as ‘queer feelings in the head’,
Cerebrovascular disorders ‘swimming sensation’, ‘unreal feelings’ and ‘walking on air’ quite possibly have an anxiety
state.
Severe anxiety or panic attacks typically cause lightheadedness that presents as a ‘funny turn’. Remember that migraine is a great mimic and can cause confusion in diagnosis.
Other somatic symptoms include palpitations, sweating, inability to swallow, headache,
breathlessness and manifestations of hyperventilation. Remember that the EEG can be normal in the confirmed epileptic.

The more bizarre the description of a ‘funny turn’, the more likely a functional
Pitfalls in management2 problem is the cause.

The main pitfall associated with seizure disorders and epilepsy is failure to diagnose, Transient hypoglycaemia can mimic a TIA.
particularly seizures not obviously generalised tonic–clonic.

Failing to place appropriate emphasis on the history in making the diagnosis.

Epilepsy
Misdiagnosing syncope with some involuntary movements as epilepsy.
Specialist referral is advisable under the following circumstances:
Overlooking cardiac arrhythmias as a cause of funny turns, including recurrent dizziness.
uncertainty of diagnosis
Failing to consider the possibility of aortic stenosis with syncopal attacks.
at onset of seizure disorder to help obtain a precise diagnosis
Misdiagnosing vertigo and syncope as TIA.
when seizures are not controlled by apparently suitable therapy. ?wrong drug, ?suboptimal
Mistaking visual or sensory migraine equivalents in young adults for TIA. dose, ?progressive underlying disorder

Overlooking drugs (including self-administered drugs) as a cause of lightheadedness. when the patient is unwell, irrespective of laboratory investigation

when a woman is considering pregnancy (preferable) or has become pregnant: to obtain

When to refer12 therapeutic guidance during a difficult phase of management

Transient ischaemic attacks, especially if the diagnosis is in doubt for assessment of the prospects for withdrawing treatment after some years of absolute seizure
control
Clinical suspicion of or proven cardiac arrhythmias

Evidence of aortic stenosis

Patient education resources
Seizures Hand-out sheets from Murtagh’s Patient Education 8th edition:

General uncertainty of the diagnosis Epilepsy

Fainting (syncope)
Practice tips
A detailed clinical analysis is more important in the first instance than laboratory
References
tests. The key to accurate diagnosis is a very careful history, taking the person
second-by-second through the attack and events preceding the turn. 1 Kincaid-Smith P, Larkins R, Whelan G. Problems in Clinical Medicine. Sydney:
MacLennan & Petty, 1990: 159–64.
Talk to as many eyewitnesses as possible in unravelling the cause.
2 Porter RS, Kaplan JL. The Merck Manual of Diagnosis and Therapy (19th edn).
For ‘undiagnosed turns’, ask the patient to keep a diary with an accurate record of Whitehouse Station, N.J.: Merck Sharp & Dohme Corp., 2011: 2041–8.
the attack, including preceding events.
3 Hindley D, Ali A, Robson C. Diagnoses made in a secondary care ‘fits, faints and Page 533
 funny turns’ clinic. Arch Dis Child, 2006; 91(3): 214–8. 20 Ahmed R, Apen K, Endean C. Epilepsy in pregnancy. Aust Fam Physician, 2014; 43(3):
112–6.
4 Stewart I, Bye A. The diagnosis of childhood fits and funny turns. Modern Medicine
Australia, 1994; 37(8): 65–72. 21 Sofou K et al. Management of prolonged seizures and status epilepticus in childhood: a
systematic review. J Child Neurol, 2009; 24(8): 918–26.
5 Epilepsy and seizures [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed October 2018. 22 Caplan LR. Transient global amnesia: criteria and classification. Neurology, 1986; 36:
441.
6 Fleisher DR, Morrison A. Masturbation mimicking abdominal pain or seizures in young
girls. J Paediatr, 1990; 116: 810–14. 23 Horne M. Neurology quiz. Aust Fam Physician, 1994; 23: 935.

7 Meadow R. Fictitious epilepsy. Lancet, 1984; 2: 25–8. 24 Thieben MJ et al. Postural orthostatic tachycardia syndrome: the Mayo Clinic experience.
Mayo Clin Proc, March 2007; 82(3): 308–13.
8 Rothner AD. Not everything that shakes is epilepsy: the differential diagnosis of
paroxysmal nonepileptiform disorders. Cleve Clin J Med, 1989; 56(Suppl, part 2): 206S–
213S.

9 Scott AK. Management of epilepsy. In: Central Nervous System. London: British Medical
Association, 1995: 1–2.

10 Fiest KM et al. Prevalence and incidence of epilepsy: a systematic review and meta-
analysis of international studies. Neurology, 2017 Jan; 88(3): 296–303.

11 Kwan P, Sander JW. The natural history of epilepsy: an epidemiological view. J Neurol
Neurosurg Psychiatry, 2004; 75: 1376–81.

12 Beran R. Management of epilepsy. Update 2008. Part 1. Medical Observer, 11 July: 31–3.

13 Levine M et al. Drugs of Choice: A Formulary for General Practice. Ottawa: Canadian
Medical Association, 1995: 98–9.

14 Bonnett LJ et al. Risk of recurrence after a first seizure and implications for driving:
further analysis of the Multicentre study of early Epilepsy and Single Seizures. BMJ,
2010; 341.

15 Berg AT, Shinnar S. The risk of seizure recurrence following a first unprovoked seizure: a
quantitative review. Neurology 1991; 41(7): 965–72.

16 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines

Handbook Pty Ltd, 2018: 757–9.

17 Austroads. Assessing Fitness to Drive for commercial and private vehicle drivers 2016 (as
amended up to August 2017), Part 6.2 Seizures and epilepsy. Available from:
www.austroads.com.au/drivers-vehicles/assessing-fitness-to-drive, accessed April 2018.

18 Cordova F. Epilepsy and sport. Aust Fam Physician, 1993; 22: 558–62.

19 Kilpatrick C. Epilepsy poses special problems. Australian Doctor Weekly, 1993; 19

February: 48.
 Page 534 Melaena is generally less life-threatening than haematemesis.

Resuscitation of the patient is the first task.

A sudden loss of 20% or more of circulatory blood volume usually produces signs
of haemorrhagic shock such as tachycardia, hypotension, faintness, syncope and
44 Haematemesis and melaena sweating. Younger people can compensate better and tolerate a larger loss prior to
the development of shock.1 A useful guide is that shock in a previously well 70 kg
male indicates an acute blood loss of at least 1000–1500 mL.

The ‘once smelt never forgotten’ sickly smell of melaena can be diagnosed from a distance of 20
metres without trying.
Causes of upper GI bleeding
The major cause of bleeding is chronic peptic ulceration of the duodenum and stomach,
EMERGENCY ROOM SUPERVISOR, BRISBANE 1985
accounting for about half of all cases.3,4 The other major cause is acute gastric ulcers and
Acute severe upper GI haemorrhage is an important medical emergency. The dramatic symptom erosions, which account for at least 20% of cases. Aspirin and NSAIDs are responsible for many
of haematemesis follows bleeding from the oesophagus, stomach and duodenum. More than half of these bleeds. Causes are summarised in TABLE 44.1 and illustrated in FIGURE 44.1 .
the patients are over 60 years of age.1
Table 44.1Diagnostic strategy model for upper
Haematemesis is the vomiting of blood appearing as fresh blood or ‘coffee grounds’. Melaena is
the passage of black tarry stools, with 50 mL or more of blood required to produce melaena stool gastrointestinal bleeding
(Greek melas = black). Melaena occurs in most patients with upper GI haemorrhage and (haematemesis)5,6
haematemesis occurs in over 50%.1

Although the incidence is declining, the mortality rate of upper GI haemorrhage remains high at Probability diagnosis
approximately 6–8%.2 Chronic peptic ulcer (stomach and duodenum)
Acute gastric ulcers/erosions
Key facts and checkpoints Oesophagitis (incl. GORD)/duodenitis
Mallory–Weiss (emetogenic) syndrome
Chronic peptic ulceration accounts for most cases of upper GI haemorrhage. Drugs: aspirin, NSAIDs, anticoagulants, clopidogrel
No obvious cause
Haematemesis is almost always associated with some degree of blood in the
stools, although melaena may not necessarily accompany it, especially if bleeding Serious disorders not to be missed
occurs from the oesophagus. Vascular:
oesophageal varices
Black stool caused by oral iron therapy or bismuth-containing antacid tablets can
cause confusion. blood dyscrasias
vascular malformation/angiodysplasia
Always check for a history of drug intake, especially aspirin and NSAIDs. hereditary coagulopathy; drugs
Corticosteroids in conventional therapeutic doses are thought to have no influence Cancer:
on GI haemorrhage. gastric or oesophageal
Other:
The volume of bleeding is best assessed by its haemodynamic effects rather than chronic liver disease
relying on the patient’s estimation, which tends to be excessive.
 Pitfalls (often missed) Mortality is about 30%, despite advances, and 70% for untreated patients.6
Stomach ulcer
Primary prevention of bleeding from varices is with the use of beta blockers such as propranolol
Swallowed blood (e.g. epistaxis) if no contraindications.7 There is a high bleeding rate.
Collagen diseases (e.g. scleroderma)
Rarities: Management includes injection sclerotherapy, and then intravenous octreotide or terlipressin if it
ruptured oesophagus fails. Passage of a Sengstaken–Blakemore or Minnesota tube into the oesophagus and stomach to
provide tamponade and the radiological procedure of using a transjugular intrahepatic
hereditary haemorrhagic telangiectasia portosystemic stent are possible options.
scurvy
ingested poisons (e.g. acid, alkali, arsenic)
gastric antral vascular ectasia
The clinical approach
History
It is important to establish the nature of the vomitus and the possibility of bleeding arising from
the mouth, nose or pharynx. A coffee grounds vomitus indicates that the blood has been in
contact with gastric acid. Oesophageal bleeding tends to lead to vomiting of fresh blood. Patients
may confuse vomiting up and coughing up blood.

Key questions
What drugs have you been taking? (see TABLE 44.2 )

Have you been taking aspirin or tablets for arthritis or back pain?

How much have you vomited?

What did the vomit look like?

Did you notice black dots like coffee grounds or any blood clots?
FIGURE 44.1 Important causes of haematemesis and melaena
Have you had any indigestion, heartburn or stomach pains recently?
Mallory–Weiss syndrome
Have you lost any weight unexpectedly?
In this condition a tear occurs at the lower end of the oesophageal mucosa (at the Page 535
oesophagogastric junction) because of an episode of severe or protracted vomiting or coughing. Have you opened your bowels and if so was it black or unusual in any way?
Blood appears in the vomitus after a bout of heavy vomiting or dry retching. It is usually seen in
How much alcohol do you drink?
alcoholic addiction, and is usually a self-limiting lesion. A definite diagnosis can only be made
by endoscopy. Have you had any previous operations on your stomach for a peptic ulcer?

Gastro-oesophageal varices Were you vomiting normal vomit before the blood appeared?

Such varices are caused by portal hypertension, which in turn is usually due to cirrhosis of the Have you been eating beetroot or other bright red foodstuffs?
liver. There is a raised incidence of peptic ulcer in those with liver cirrhosis, especially in biliary
and alcohol-induced cirrhosis, so this should be kept in mind as a possible source of bleeding.
Table 44.2 Drugs associated with gastrointestinal
haemorrhage2
 haemorrhage2 signs of shock. Such patients require insertion of intravenous lines and rapid infusion of isotonic
saline followed by a plasma expander (e.g. Haemaccel) followed by transfusion with blood
commenced as soon as possible.
Aspirin
Clopidogrel Proton-pump inhibitors should be commenced in most cases especially as 50% of bleeding is
Other antiplatelet drugs from peptic ulceration. Oral administration may be possible in most cases but intravenous PPI
(e.g. omeprazole 80 mg over 15–30 minutes followed by IV infusion for up to 3 days or
Heparin/new oral anticoagulants
pantoprazole IV)7,8 is appropriate for the seriously ill.4 Eventually switch to oral PPIs.
NSAIDs/COX-2 inhibitors
Prednisolone In many patients bleeding is insufficient to decompensate the circulatory system and they settle
SSRI antidepressants spontaneously. Approximately 85% stop bleeding within 48 hours.3
Warfarin
In some instances intervention via upper endoscopy to achieve haemostasis of bleeding point
with electrocautery, a heater probe (e.g. Gold Probe) or injection with adrenaline (or both), or
application of clips will be employed. Occasionally surgery will be necessary to arrest bleeding
Examination but should be avoided if possible in patients with acute gastric erosion.

The patient’s general state, particularly the circulation, should be assessed immediately on Practice tips
presentation. It is critical to assess haemodynamic status with vital signs of heart rate, blood
pressure and postural changes.2 A careful abdominal examination should be performed including
a digital rectal examination. As a rule abdominal findings are not remarkable except when a Ask the patient not to dispose of the evidence of vomitus, if possible.
mass, hepatomegaly or splenomegaly is found. Other evidence of liver disease should be sought.
Patients with haematemesis should be assessed in the emergency department.

Investigations Upper endoscopy is the gold standard for diagnosis and therapy for acute upper
gastrointestinal bleeding.
Investigations to determine the source of the bleeding should be carried out in a Page 536
specialist unit. Upper gastrointestinal endoscopy is the single most useful test and will detect the Many episodes of gastric bleeding stop spontaneously—possibly as high as 80%
cause of the bleeding in at least 80% of cases.3 Sometimes no visible cause can be identified. in one study.

The haemoglobin level will not be an appropriate guide to blood loss or the need for transfusion
during the early stages because haemodilution occurs gradually over the 24 hours following a
severe bleed. However, a level below 90 g/L during this period is usually regarded as an References
indication for transfusion.
1 Papadakis MA, McPhee SJ. Current Medical Diagnoses and Treatment (56th edn). New
Other tests to consider include FBE, H. pylori, LFTs, plain abdominal X-ray, coagulation profile. York: The McGraw-Hill Companies, 2017: 504–7.

Management 2 Worthley DL, Fraser RJ. Management of acute bleeding in the upper gastrointestinal tract.
Australian Prescriber, 2005; 28: 62–6.
The immediate objectives are:
3 Kumar PJ, Clark ML. Clinical Medicine (7th edn). London: Elsevier Saunders, 2009: 291–
1. stabilise patient; restore an effective blood volume (if necessary) 3.

2. establish a diagnosis to allow definitive treatment 4 Fulde GW. Emergency Medicine (4th edn). Marrickville: Elsevier, 2007: 299–301.

All patients with a significant bleed should be admitted to hospital and referred to a specialist 5 Beck ER, Francis JL, Souhami RL. Tutorials in Differential Diagnosis (3rd edn).
unit. Urgent resuscitation is required where there has been a large bleed and there are clinical Edinburgh: Churchill Livingstone, 1995: 75–9.
6 Norton I, Chan C. Upper gastrointestinal bleeding: clinical review. Medical Observer, 9 Page 537
April 2010: 1–3.

7 Bleeding peptic ulcers [published 2016]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed October 2019.

8 Sachar H, Vaidya K, Laine L. Intermittent vs continuous proton pump inhibitor therapy for 45 Headache
high-risk bleeding ulcers: a systematic review and meta-analysis. JAMA Intern Med,
2014: 174(11): 1755–62.

When the head aches, all the body is out of tune.

MIGUEL DE CERVANTES (1547–1616)

Headache, one of the cardinal symptoms known to human beings, is a very common complaint
in general practice. When someone presents with ‘headache’ we need to have a sound diagnostic
and management strategy as the problem can be confusing. The key to analysing the symptom of
headache is to know and understand the cause, for ‘one only sees what they know’.

The patient’s manner of presentation can confuse us because many tend to influence us with
preconceived ideas that they will verbalise—‘I think I need my blood pressure checked’ or ‘My
eyes need testing’—or they may not mention their anxiety about a cerebral tumour or an
impending stroke.

Hypertension is such a rare cause of headache that one is tempted to stress the adage
‘hypertension does not cause headache’, but we do encounter the occasional exception and it is
mandatory (and expected by patients) to measure the blood pressure of anyone presenting with
headache. However, where headaches and hypertension coexist, assume that the headaches are
not due to hypertension.

The diagnosis of serious causes of headache depends on a careful history, a high index of
suspicion of the ‘different’ presentations and the judicious use of CT scanning.

Key facts and checkpoints

Half to three quarters of adults aged 18–65 years in the world reported a headache
in the last year, and of those, 30% reported a migraine.1

Forty per cent of children will have experienced one or more headaches by the age
of 7 and 75% by the age of 15.2

Headache can be classified as primary or secondary, e.g. intracranial pathology,

eyes, cervical spine, which requires urgent investigation.

Migraine affects at least 10% of the adult population and one-quarter of these
 patients require medical attention for their attacks at some stage.3 It is under- subarachnoid haemorrhage
recognised and poorly managed in the community.4 stroke/TIA
intracranial haemorrhage
Five per cent of children suffer from migraine by the age of 11 years.3 carotid or vertebral artery dissection
Seventy per cent of sufferers have a positive family history of migraine. temporal arteritis
cerebral venous thrombosis, e.g. venous sinus
Before diagnosing tension headache, consider underlying disorders of the neck, Neoplasia:
eyes, teeth, temporomandibular joints or other structures.3 cerebral tumour
Drug-induced headaches are common and must be considered in the history. pituitary tumour
Severe infections:
In children the triad of symptoms—dizziness, headache and vomiting—indicates meningitis, esp. fungal
medulloblastoma of the posterior fossa until proved otherwise.
encephalitis
A typical triad of symptoms in an adult with a cerebral tumour (advanced) is intracranial abscess
headache, vomiting and convulsions. Haematoma: extradural/subdural
Pressor response, e.g. phaeochromacytoma
Eye strain is not a common cause.
Glaucoma (acute)
Secondary bronchogenic bronchial carcinoma is the commonest cause of Benign intracranial hypertension
intracerebral malignancy.
Pitfalls (often missed)
Primary headaches must be differentiated from secondary headaches.5 Cervical spondylosis/dysfunction
Reversible cerebral vasoconstriction syndrome
Dental disorders
A diagnostic approach Refractive errors of eye
Sinusitis
A summary of the diagnostic strategy model is presented in TABLE 45.1 . Ophthalmic herpes zoster (pre-eruption)
Exertional headache
Table 45.1 Paroxysmal hemicrania
Headache: diagnostic strategy model
Hypoglycaemia
Post-traumatic headache
Probability diagnosis
Post-spinal procedure (e.g. epidural, lumbar puncture)
Acute: respiratory infection Sleep apnoea
Chronic: Rarities:
tension-type headache Paget disease
combination headache post-sexual intercourse
migraine Cushing syndrome
chronic migraine (transformed migraine) Conn syndrome
Serious disorders not to be missed Addison disease
Cerebrovascular: dysautonomic cephalgia
 Seven masquerades checklist intensity
Depression
reversible cerebral vasoconstriction
Diabetes
Drugs arterial dissection
Anaemia
meningitis—must be considered if the headache is generalised, especially in the presence of
Thyroid/endocrine disorder malaise, fever and neck stiffness: the ache, which is constant and severe, may begin abruptly
Spinal dysfunction (cervicogenic/occipital neuralgia)
UTI For chronic headache, space-occupying lesions including subdural haematomas must be
considered. Since headaches tend to decrease with age, headaches developing in the elderly
Is the patient trying to tell me something? should be viewed with suspicion and this includes considering temporal arteritis (TA). Idiopathic
Quite likely if there is an underlying psychogenic problem. intracranial hypertension should be considered, especially in young obese women. The
dangerous cryptococcal meningitis can be difficult as the CT scan may be normal.

Tips on sinister causes of headache4

Probability diagnosis
The most important indicator is time course: beware of acute or subacute tempo.
The commonest cause of headache presenting in general practice is respiratory infection.6
The
most common causes of chronic recurrent headache are chronic migraine, tension-type headache Be suspicious of any focal symptoms or signs (except for typical migraine aura).
and combination headaches. Combination headaches, typified by relatively constant pain lasting
for many days, have a mix of components such as tension, depression, cervical dysfunction, Beware of fever, confusion, altered mental state or neck stiffness.
vascular headache and drug dependence. Neurologists may refer to these headaches as ‘tension-
New onset headache, esp. sudden and first episode, patient >50 years, post trauma.
vascular headache’. Tension headache is less common than previously promulgated.3

Page 538 Pitfalls

Chronic migraine7
Previously called ‘transformed migraine’ because of the progressive increase in frequency of
migraine attacks until the headache recurs daily. The typical migraine features become modified
so that the pattern resembles that of tension headache but with the unilateral situation of
migraine. Analgesic abuse can transform episodic migraine into chronic daily headache.
The list (see TABLE 45.1 ) contains some causes of headache that are hard to pin down,
although some should be obvious if a careful history is elucidated. These include post-traumatic
headache, postprocedural headache (e.g. lumbar puncture and spinal anaesthesia) and exertional
headache. Sinusitis can be overlooked in the absence of respiratory signs. Refractive errors of the
eye, although an uncommon cause of headache, do warrant consideration.

Page 539
Serious disorders not to be missed General pitfalls
For the acute onset of headache it is vital not to miss subarachnoid haemorrhage (SAH) or Overinvestigating the patient with headache, especially as a substitute for a careful history and
meningitis. Intracranial haemorrhage, especially involving cerebellar, intraventricular and frontal
examination
lobe areas, needs to be considered.
Failing to appreciate that a combination of factors and cervical dysfunction are common
Acute ‘thunderclap’ headache7,8 causes of headache

This is a sudden severe headache that can be caused by the following: Omitting to measure the blood pressure in the person complaining of headache

enlarging aneurysm—an enlarging aneurysm or vascular malformation can cause acute Rushing in with antibiotics for a patient (especially children) with fever and headache—
headache bacterial meningitis may be masked

SAH—the pain is typically occipital, localised at first then generalised and may vary in
 Attributing the early headache of a space-occupying lesion to tension or hypertension
Seven masquerades checklist
Of the masquerades, depression and drugs are important causes of headache. Cervical
dysfunction is certainly an important cause and tends to be ignored by some doctors. Australian
figures are misleading because many of these patients tend to gravitate to alternative health
professionals.
A UK study placed headache from cervical spondylosis on almost equal terms with migraine.6
The explanation for referral of pain from disorders of the upper cervical spine to the head and
eye is that some afferent fibres from the upper three cervical nerve roots converge on cells in the
posterior horn of the spinal cord (which can also be excited by trigeminal afferent fibres), thus
conveying to the patient the impression of head pain through this shared pathway (see
FIG. 45.1 ).
Headache, like tiredness, is one of those symptoms that may reflect a ‘hidden agenda’. Of
course, the patient may be depressed (overt or masked) or may have a true anxiety state. The
most characteristic feature of psychogenic headache is that the headache is present virtually
every minute of the day for weeks or months on end. However, it is common for patients to not
describe themselves as anxious, depressed or unduly stressed. For this reason a detailed history is
important to identify lifestyle factors and historical events that can be associated with headache.
Some are fearful of their headache lest it represents a cerebral tumour, stroke or hypertension;
they need appropriate reassurance.
Conversion reactions and other aspects of compensation rewards, especially following an
accident (e.g. rear-end collision), may make the symptom of headache difficult to manage.
Headache, like backache, is one of the prime symptoms perpetuated or exaggerated for
secondary gain.
Severe headaches, especially simulated migraine, are common ‘tickets of entry’ for those seeking
narcotics from empathic practitioners. Such patients require very skilled management.

Timelines for causes of headache/facial pain

Acute severe headache, e.g.:

subarachnoid haemorrhage

benign sex or exertional headache

migraine/cluster headache

reversible cerebral vasoconstriction

Subacute headache (recent onset, increasing):

expanding intracranial lesion

temporal arteritis
FIGURE 45.1 Typical headache referral patterns for dysfunction of the upper
cervical spinal segments Recurrent episodes, e.g.: Page 540

Question the possibility of the effect of any drug the patient is taking: important examples are migraine/cluster headache
alcohol, analgesics (rebound), antihypertensives (several), caffeine, COCP, corticosteroids,
NSAIDs (especially indomethacin), vasodilators (e.g. CCBs), nitrates, PDE inhibitors (e.g. benign sex or exertional headache
sildenafil). Anaemia can cause headache, usually if the haemoglobin level falls below 100 g/L.7
Hypo- and hyperthyroidism may also cause headache, and in diabetes hypoglycaemia is often neuralgias, e.g. trigeminal
responsible.
Chronic headache, e.g.:

Psychogenic considerations tension-type headache

 chronic migraine/rebound headache
The clinical approach
cervicogenic/post-traumatic

atypical facial pain History

A full description of the pain including a pain analysis should be obtained using one of the
Diurnal patterns of pain mnemonics (see CHAPTER 82 ) with an emphasis on relieving factors and associations.

Plotting the fluctuation of headache during the day provides vital clues to the diagnosis (see
FIG. 45.2 ). The person who wakes up with headache could have vascular headache (migraine),
cervical spondylosis, depressive illness, hypertension or a space-occupying lesion. It is usual for
migraine to last hours, not days, which is more characteristic of tension headache. The pain of
frontal sinusitis follows a typical pattern, namely onset around 9 am, building to a maximum by
about 1 pm, and then subsiding over the next few hours. In the absence of respiratory symptoms
it is likely to be misdiagnosed as tension headache. The pain from combination headache tends to
follow a most constant pattern throughout the day and does not usually interrupt sleep.
It is useful to get the patient to plot on a prepared grid the relative intensity of the pain and the
times of day (and night) that the pain is present. The history, especially of the tempo of the
condition, should help diagnose headaches secondary to specific pathology.
Key questions
Can you describe your headaches?
How often do you get them?

Can you point to exactly where in the head you get them?

Do you have any pain in the back of your head or neck?

What time of the day do you get the pain?

Do you notice any other symptoms when you have the headache?

Do you feel nauseated and do you vomit?

Do you experience any unusual sensations in your eyes, such as flashing lights?

Do you get dizzy, weak or have any strange sensations?

Does light hurt your eyes?

Do you get any blurred vision?

Do you notice watering or redness of one or both of your eyes?

Do you get pain or tenderness on combing your hair?

Are you under a lot of stress or tension?

Does your nose run when you get the headache?

What tablets do you take?

FIGURE 45.2 Typical diurnal patterns of various causes of headache; the
relative intensity of pain is plotted on the vertical axis Do you get a high temperature, sweats or shivers?
 Have you had a heavy cold recently? temporomandibular joints. Search especially for signs of meningeal irritation and papilloedema.

Have you ever had trouble with your sinuses?

Red flag indicators for headache3
Have you had a knock on your head recently?

What do you think causes the headaches? Sudden onset, especially if no previous history

Differences between the clinical features of migraine and tension headache are presented in Severe and debilitating pain
TABLE 45.2 . ‘Red flag’ indicators of a serious cause of headache are outlined in the box.
Progressive
Page 541
Fever
Table 45.2 A comparison of typical clinical features of Vomiting
migraine and tension headache5
Disturbed consciousness/confusion, drowsiness
Migraine Tension headache Personality change
Family history ✓
Worse with bending, posture, coughing or sneezing
Onset before age 20 ✓
Prodromata ✓ Maximum in morning

Bilateral ✓ Wakes patient at night

Unilateral ✓ Neurological and visual symptoms/signs
Throbbing ✓
Seizure
Constant ✓
Less than one per week ✓ Young, obese female with deteriorating vision (intracranial HTn)
Continuous daily ✓ ‘New’ in elderly, especially >50 years
Lasts less than 24 hours ✓
Post-head injury
Vomiting ✓
Aggravated by the pill ✓ Non-migraine headache in pregnancy or postpartum
Aggravated by alcohol ✓
Relieved by alcohol ✓ A mental state examination is mandatory and includes looking for altered consciousness or
cognition and assessment of mood, anxiety–tension–depression and any mental changes.
Neurological examination includes assessment of visual fields and acuity, reactions of the pupils
and eye movements in addition to sensation and motor power in the face and limbs and reflexes,
Examination including the plantar response. ‘Red flag’ pointers from physical examination are given in the
box.
For the physical examination it is appropriate to use the basic tools of trade, namely the
thermometer, sphygmomanometer, pen torch, and diagnostic set, including the ophthalmoscope
and the stethoscope. Inspect the head, temporal arteries and eyes. Areas to palpate include the
temporal arteries, the facial and neck muscles, the cervical spine and sinuses, the teeth and
Red flag pointers: from physical examination
 Altered consciousness or cognition SAH, urgent non-enhanced cerebral CT scan for acute thunderclap headache8

Meningism radioisotope scan (technetium-99m) to localise specific tumours and haematoma

Abnormal vital signs: BP, temperature, respiration MRI: very effective for intracerebral pathology but expensive; produces better Page 542
definition of intracerebral structures than CT scanning but not as sensitive for
Focal neurological signs, including pupils, fundi, eye movement detecting bleeding; detects intracranial vasculitis in temporal arteries
Tender, poorly pulsatile temporal arteries lumbar puncture: diagnosis of meningitis, suspected SAH (only if CT scan normal)
Papilloedema Note: Dangerous if raised intracranial pressure.

Special signs
Upper cervical pain sign. Palpate over the C2 and C3 areas of the cervical spine, especially
two finger breadths out from the spinous process of C2. If this is very tender and even
provokes the headache it indicates headache of cervical origin.
Ewing sign for frontal sinusitis. Press your finger gently upwards and inwards against the
orbital roof medial to the supra-orbital nerve. Pain on pressure is a positive finding and
indicates frontal sinusitis.
The invisible pillow sign. The patient lies on the examination table with head on a pillow. The
examiner then supports the head with his or her hands as the pillow is removed. The patient is
instructed to relax the neck muscles and the examiner removes the supporting hands. A
positive test indicating tension from contracting neck muscles is when the patient’s head does
not readily change position. This is uncommon.
Investigations
Investigations can be selected from:
haemoglobin: ?anaemia
Headache in children
Respiratory infections and febrile illnesses are common causes of headache in children but there
are other causes that reflect the common causes in adults. Many childhood headaches are isolated
but are chronic in a significant number. Migraine is relatively common before adolescence, while
tension or muscle contraction headache is more common after adolescence.
Consider often overlooked causes such as hair traction, eye strain (measure and record vision)
and hypoglycaemia. Children who have long periods without regular eating are prone to
headache including exacerbations of migraine. They should not skip breakfast.9
Young children rarely experience sinus headache and this should not really be considered until
the sinuses develop, around 5 years for the frontal sinuses.
Migraine affects 1% of children at age 7 and 5% or more at age 15, with girls developing it at a
higher rate2 with increasing age. There is a strong family history. The prognosis is good as the
majority will have no migraines in the long term. The type is mainly common migraine with
symptoms such as malaise or nausea: classic migraine with the typical aura is not a feature of
childhood migraine. The rather dramatic vertebrobasilar migraine is frequent in adolescent girls
and hemiplegia occurs in infants and children, especially with their first migraine attack.10
Vomiting is not necessarily an associated symptom in children.

WCC: leucocytosis with bacterial infection The possibility of cerebral space-occupying lesions requires due consideration, especially if the
headaches are progressive. These are present typically in the morning and are associated with
ESR/CRP: ?temporal arteritis symptoms such as vomiting, dizziness, diplopia, ataxia, personality changes and deterioration of
school performance. Symptoms that indicate a cerebral tumour or other serious problem are
radiography: outlined in TABLE 45.3 .

chest X-ray, if suspected intracerebral malignancy

Table 45.3 Pointers to serious causes of headache
cervical spine in children
sinus X-ray, if suspected sinusitis
Headache features
CT scan: detection of brain tumour (most effective), cerebrovascular accidents (valuable),
 Persistent or recurrent Psychogenic
Present first thing in morning Migraine
Wakes child at night Meningitis
No past history Post-traumatic
No family history
Adults, including middle age Migraine
Associated poor health Cluster headache
Associated neurological symptoms Tension
Unilateral localisation Cervical dysfunction
Subarachnoid haemorrhage
Source: Wright2
Combination
Elderly Cervical dysfunction
Neonates and children aged 6–12 months are at the greatest risk from meningitis and it is
Cerebral tumour
important to keep this in mind.
Temporal arteritis
Management of the non-serious causes of headache includes reassurance (especially of parents), Neuralgias
discouragement of excessive emphasis on the symptom and simple medications, such as Paget disease
paracetamol for the younger child and aspirin for the adolescent. Patients with undiagnosed
Glaucoma
and/or problematic headache should be referred.
Cervical spondylosis
Pharmacological treatment in children10 Subdural haemorrhage

Tension headache and migraine:

Late-life migraine can be mistaken for cerebrovascular disease, especially in the presence of
paracetamol 20 mg/kg (o) statim then 15 mg/kg 4–6 hourly up to 90 mg/kg/day (max. 4 g preceding neurological symptoms. It is the sequence of the visual and sensory symptoms with
daily) the spread from face to tongue to hand over some minutes, with clearing in one area as it appears
that helps distinguish migraine from transient ischaemic attacks (TIAs). Although some patients
or
experience headache with TIAs, it is not a distinguishing feature. Vomiting is suggestive of
ibuprofen 5–10 mg/kg (o) statim up to 40 mg/kg/day (not for children <6 months) migraine rather than cerebrovascular disease.11

Headache in the elderly General headache disorders

A recent onset of headache in the elderly has to be treated with caution because it could herald a Tension-type headache
serious problem, such as a space-occupying lesion (e.g. neoplasm, subdural haematoma), TIA,
trigeminal neuralgia or vertebrobasilar insufficiency. Cervical spondylosis is age-related and may Tension or muscle contraction headaches are typically a symmetrical (bilateral) Page 543
be an important factor in the ageing patient. Age-related headaches are summarised in tightness. They tend to last for hours and recur each day. They are often associated with cervical
TABLE 45.4 . dysfunction and stress or tension, although the patient usually does not realise the headaches are
associated with tension until it is pointed out. Seventy-five per cent of patients are females.3
Table 45.4 Age-related causes of headache
IHS criteria for tension-type headache12
Children Intercurrent infections
The International Headache Society (IHS3) criteria for episodic tension-type
headaches involve the following:

A The patient should have had at least 10 of these headaches.

B The headaches last from 30 minutes to 7 days.
C The headaches must have at least two of the following four:

1. non-pulsating quality

2. mild or moderate intensity

3. bilateral location

4. no aggravation with routine physical activity

D The headaches must have both of the following:

FIGURE 45.3 Typical distribution of pain in tension-type headache
1. no nausea or vomiting
Management10
2. photophobia and phonophobia are absent, or one but not the other is
present Careful patient education: explain that the scalp muscles get tight like the calf muscles when
climbing up stairs.
E Not attributable to another disorder.
Counselling and relevant advice; CBT is as effective as any drug in all ages
IHS = International Headache Society

Learn to relax your mind and body.

Clinical features (tension headache) During an attack, relax by lying down in a hot bath and practise meditation.
Site: frontal, over forehead and temples (see FIG. 45.3 ) Be less of a perfectionist: do not be a slave to the clock.
Radiation: occiput
Don’t bottle things up, stop feeling guilty, approve of yourself, express yourself and your
Quality: dull ache, like a ‘tight pressure feeling’, ‘heavy weight on top of anger.
head’, ‘tight band around head’; may be tightness or vice-like feeling
rather than pain Advise stress reduction, relaxation therapy and yoga or meditation classes. Page 544

Frequency: almost daily

Advise and demonstrate massage of the affected area with a soothing analgesic rub.
Duration: hours (can last days)
Medication—use mild non-opioid analgesics such as soluble aspirin, ibuprofen or
Onset: after rising, gets worse during day
paracetamol. Discourage stronger analgesics. Avoid tranquillisers and antidepressants if
Aggravating stress, overwork with skipping meals possible, but consider these drugs if symptoms warrant medication (e.g. amitriptyline 10 mg
factors: (o) nocte increasing to 75 mg or nortriptyline if necessary).
Relieving alcohol
Special notes:
factors:
Associated lightheadedness, fatigue, neck ache or stiffness (occiput to The general aim is to direct patients to modify their lifestyle and avoid tranquillisers and
features: shoulders), perfectionist personality, anxiety/depression analgesics.
Physical muscle tension (e.g. frowning), scalp often tender to touch, ‘invisible It is unusual to be awoken from sleep.
examination: pillow’ sign may be positive
 Beware of depression.
DxT headache + vomiting + visual aura → migraine with aura (classic)
Consider muscle energy therapy and/or mobilisation of the neck followed by exercises if there
is evidence of cervical dysfunction.

Recommend a meditation program. IHS3 criteria for common migraine12

Migraine
Migraine, or the ‘sick headache’, is derived from the Greek word meaning ‘pain involving half
the head’. It affects at least 1 person in 10, is more common in females (18% of women, 6%
men) and peaks between 20 and 50 years. There are various types of migraine (see
TABLE 45.5 ), with classic migraine (headache, vomiting and aura) and common migraine
(without the aura) being the best known. The most common trigger factor is stress.3 Also
consider chocolate, cheese, alcohol, hangover and exercise.
The IHS3 criteria for migraine without aura involve the following checklist.
A The patient should have had at least five attacks fulfilling criteria B and D.
B The headaches last 4–72 hours.
C The headache must have at least two of the following:
1. unilateral location
2. pulsing quality
3. moderate or severe intensity, inhibiting or prohibiting daily activities

Table 45.5 Types of vascular headache 4. headache worsened by routine physical activity

D The headache must have at least two of the following:

Common migraine (aura is vague or absent)
1. nausea and/or vomiting
Classic migraine
Complicated migraine 2. photophobia or phonophobia
Aura without migraine (acephalgic migraine)
Unusual forms of migraine: E Not attributable to another disorder.
hemiplegic
basilar
retinal IHS3 criteria for migraine with typical aura (classic)12
migrainous (vestibular) vertigo A At least two attacks fulfilling criteria B and C.
migrainous stupor B One or more of the following fully reversible aura symptoms: visual, sensory,
ophthalmoplegic speech and/or language, motor, brainstem, retinal.
migraine equivalents C At least two of:
status migrainosus 1. at least one aura symptom spreads gradually over at least 5 minutes
Cluster headache
Chronic paroxysmal hemicrania 2. each aura symptom lasts 5–60 minutes
Menstrual migraine
3. at least one symptom is unilateral
Lower half headache
Benign exertional/sex headache (beware of SAH) 4. headache follows aura within 60 minutes
Miscellaneous (e.g. icepick pains, ‘ice-cream’ headache)
D Not attributable to another disorder including TIA.

Source: Day13

Management
Patient education: provide explanation and reassurance, especially if bizarre visual and sensory (unilateral paraesthesia)
neurological symptoms are present. Patients should be reassured about the benign nature of their
migraine. For each migraine sufferer, an individual treatment plan including a migraine action Other pointers: abdominal pain in childhood; family history of migraine, asthma
plan should be devised. and eczema

Counselling and advice

Classical migraines with visual aura are a contraindication to prescribing the combined oral
contraceptive.14 Discuss other options.

Tailor the advice to the individual patient. Page 545

Avoid known trigger factors, especially tension, fatigue, hunger and constant physical and
mental stress.

Advise keeping a diary of foodstuffs or drinks that can be identified as trigger factors.
Consider a low amine diet: eliminate chocolate, cheese, red wine, coffee, walnuts, tuna,
Vegemite, spinach and liver. FIGURE 45.4 Typical distribution of pain in migraine (right side)

Practise a healthy lifestyle, relaxation programs, meditation techniques and biofeedback

training. Table 45.6 Migrainous trigger factors
Clinical features (classic migraine)
Exogenous
Site: temporofrontal region (unilateral) (see FIG. 45.4 ); can be Foodstuffs—chocolate, oranges, tomatoes, citrus fruits, cheeses, gluten sensitivity
bilateral (possible)
Radiation: retro-orbital and occipital Alcohol—especially red wine
Quality: intense and throbbing Drugs—vasodilators, oestrogens, monosodium glutamate, nitrites (‘hot dog’
headache), indomethacin, OCP, codeine
Frequency: 1 or 2 per month
Glare or bright light* (32%)
Duration: 4–72 hours (average 6–8 hours)
Emotional stress* (63%)
Onset: paroxysmal, often wakes with it
Head trauma (often minor) (e.g. jarring—‘footballer’s migraine’)
Offset: spontaneous (often after sleep) Allergen
Precipitating tension and stress (commonest); others in TABLE 45.6 Climatic change
factors: Excessive noise
Aggravating tension, activity Strong perfume
factors:
Endogenous
Relieving sleep, vomiting
Tiredness, physical exhaustion, oversleeping
factors:
Lack of sleep
Associated nausea, vomiting (90%), irritability,
Stress, relaxation after stress—‘weekend migraine’
factors: aura
Exercise/physical stress
visual 25% (scintillation, scotoma, hemianopia,
Hormonal changes
fortification)
 puberty avoid opioids
menstruation*
If nausea and vomiting is a feature: Page 546
climacteric
pregnancy metoclopramide 10–20 mg oral, IM or IV
Hunger
or
Familial tendency
?Personality factors prochlorperazine 12.5 mg IM or 12.5–25 mg rectally

*most common consider nasal sumatriptan

Alternatives (especially if above ineffective or severe):

Treatment of the acute attack Choose a triptan preparation—best at start of attack.
Commence treatment at earliest impending sign. Triptans (effective in about 2 out of 3 patients)
Mild headaches may require no more than conventional treatment with ‘two aspirin (or sumatriptan (a serotonin receptor agonist)10 50–100 mg (o) at the time of prodrome, repeat in
paracetamol) and a good lie down in a quiet dark room’.5,10 2 hours if necessary to maximum dose 300 mg/24 hours
Rest in a quiet, darkened, cool room. or
Place cold packs on the forehead or neck. nasal spray 10–20 mg per nostril (up to 40 mg/24 hours)
Drink copious water but avoid drinking coffee, tea or orange juice. or
Avoid moving around too much. 6 mg, SC injection, repeat in 1 or more hours to maximum dose 12 mg/24 hours
Do not read or watch television. or
For patients who find relief from simply ‘sleeping off’ an attack, consider prescribing zolmitriptan 2.5–5 mg (o), repeat in 2 hours if necessary (max. 10 mg/24 hours)
temazepam 10 mg or diazepam 10 mg in addition to the following measures.3
or
For moderate attacks use oral ergotamine or sumatriptan and for severe attacks use injection
therapy. naratriptan 2.5 mg (o), repeat in 4 hours (max. 5 mg/24 hours)

Avoid pethidine and other opioids. or

Medication (if necessary)10,15,16 rizatriptan 10 mg wafer, repeat in >2 hours (max. 30 mg/24 hours)

First-line medication acute migraine: or

aspirin or paracetamol + anti-emetic: e.g. soluble aspirin 600–900 mg (o) and metoclopramide
10 mg (o)
paracetamol or ibuprofen (for children)
consider NSAIDs (e.g. ibuprofen, naproxen, diclofenac rapid)
eletriptan 40–80 mg (o) up to 160 mg/24 hours
Avoid triptans in patients with coronary artery disease, Prinzmetal angina, uncontrolled
hypertension or during pregnancy. Do not use with ergotamine simultaneously and cease if chest
pain develops, albeit transient in a young patient. Use with caution in patients taking SSRIs,
MAOIs and lithium.
Treatment of the severe attack Non-drug self-management with avoidance of any known trigger factors is the key. A 2016
Cochrane review of acupuncture found that a course of at least 6 treatments reduced the
(If other preparations ineffective.) frequency of episodes compared to no acupuncture and placebo ‘fake’ acupuncture.18

Consider prophylactic therapy for frequent attacks that cause disruption to the patient’s lifestyle
Practice tip for early migraine attack and well-being, a rule of thumb being two or more severe migraine attacks per month; certainly
consider it for weekly attacks and a poor response to therapy for the acute attack. Do not give
A triptan + a NSAID, e.g. naproxen or ibuprofen17 ergotamine.11

The wide variety of drugs used reflects the lack of marked superiority of any one agent.10 Weak-
to-moderate evidence supports many of them (more so near the top of the list than the bottom)
Caution: Consider the possibility of underlying cerebral vascular malformation, SAH or opioid
but comparisons are lacking. Individuals may need to trial a number of medications (one at a
addiction.
time, gradually increasing dose, for 8–12 weeks) before finding success.
If at home:13 beta blockers—propranolol 20 mg (o) bd or tds (max. 160 mg/day)* (metoprolol, atenolol less
sumatriptan 6 mg (SC) evidence)

If in surgery or emergency room: tricyclic antidepressants—amitriptyline 10 mg (o) nocte (max. 75 mg)*; nortriptyline

metoclopramide 10 mg (IV) slowly over 2 minutes + oral analgesics sodium valproate 200 mg (o) nocte (max. 500 mg bd)*

or pizotifen 0.5–2.0 mg at night (poorly tolerated)

metoclopramide 10 mg (IV) + dihydroergotamine candesartan 4 mg (o) daily (max. 32 mg)

0.5 mg IV slowly calcium-channel blockers—verapamil SR 90 mg (o) daily (max. 240 mg); nifedipine

topiramate
or

sumatriptan 6 mg (SC) cyproheptadine (ideal for children—seek specialist advice)

clonidine
or

chlorpromazine 0.1 mg/kg IV infusion over 30 mins NSAIDs—naproxen, indomethacin, ibuprofen Page 547

Caution: Do not use ergotamine preparations if sumatriptan used in previous 6 hours, and do not MAOIs—phenelzine, moclobemide
use sumatriptan if ergotamine preparations used in previous 24 hours.
sumatriptan

Practice tips for severe classic migraine: gabapentin

botulinum toxin into muscles of the face, scalp or neck (only slightly more effective than
IV metoclopramide + 1 litre N saline IV in 30 minutes + oral aspirin or paracetamol placebo)
Continue high fluid intake *first line

For consideration:

Prophylaxis melatonin
 anti-CGRP monoclonal antibodies
Management10,16
Menstrual migraine10
Acute attack (brief treatment seldom effective):
Naproxen 550 mg (o) bd, 48 hours before expected attack for 4–10 days, oestradiol gel 1.5 mg
transdermally, once daily for 7 days or mefenamic acid. consider 100% oxygen 15 L/min for 15 min (usually good response)

Guidelines10,15 sumatriptan 6 mg SC injection (or 20 mg intranasal), rizatriptan 10 mg (o) or zolmitriptan 2.5

mg (o)
Select the initial drug according to the patient’s medical profile:
or
if low or normal weight—pizotifen
consider local anaesthetic—greater occipital nerve block
if hypertensive—a beta blocker
Avoid alcohol during cluster.
if depressed or anxious—amitriptyline
Prophylaxis (once a cluster starts)
if tension—a beta blocker
Consider the following:
if cervical spondylosis—naproxen
for control of attack, naratriptan 2.5 mg (o) bd for 1 week
food-sensitive migraine—pizotifen
methysergide 1 mg (o) once daily up to 3 mg bd
menstrual migraine—naproxen or mefenamic acid or ibuprofen or oestradiol transdermal gel
prednisolone 50 mg/day for 10 days then taper over 3 weeks (as a bridging treatment)
Commonly prescribed first-line drugs are propranolol or pizotifen:11
lithium 250 mg (o) bd
propranolol 40 mg (o) bd or tds (at first)
verapamil SR 160 mg (o) daily up to 320 mg
increasing to 320 mg daily (if necessary)
pizotifen
pizotifen 0.5–1 mg (o) nocte (at first) increasing to 3 mg a day (if necessary)
indomethacin (helps confirm diagnosis)
Each drug should be tried for 2 months before it is judged to be ineffective. Amitriptyline 50 mg
sodium valproate
nocte can be added to propranolol, pizotifen (beware of weight gain) or methysergide and may
convert a relatively poor response to very good control.3 Note: Some of the above can be used long term for frequent clusters. Prevention of further
attacks is the main focus of cluster headache treatment.5
Cluster headache
Clinical features
Cluster headache is also known as migrainous neuralgia. It occurs in paroxysmal clusters of
unilateral headache that typically occur nightly, usually in the early hours of the morning, Site: over or about one eye (see FIG. 45.5 ); always same side
although patients may have headaches that occur at other times. A hallmark is the pronounced
Radiation: frontal and temporal regions
cyclical nature of the attacks and at least five attacks. It occurs typically in males (6:1 ratio) and
is rare in childhood. There are no visual disturbances or vomiting. Quality: severe
Frequency: one every other day and 8 per day for more than half the time
DxT retro-orbital headache + rhinorrhoea + lacrimation → cluster
headache Duration: 15–180 minutes (average 30 minutes); the clusters last 4–6 weeks
(can last months)
Onset: suddenly during night (usually), same time about 2–3 hours after FIGURE 45.6 Features of an attack of cluster headache: ptosis, lacrimation
falling asleep; the ‘alarm clock’ headache (e.g. 2–4 am) and a discharge from the nostril on the side of pain
Offset: spontaneous
Aggravating alcohol (during cluster)
Cervicogenic headache
factors:
Headache from neck disorders (cervical dysfunction or spondylosis), referred to as cervicogenic,
Relieving drugs is far more common than realised and is very rewarding to treat by physical therapy, including
factors: mobilisation and manipulation and exercises in particular. See CHAPTERS 15 and 51 .
Associated family history; rhinorrhoea and/or congestion, ipsilateral nose;
Headache can be caused by abnormalities in any structure innervated by the upper two cervical
features: lacrimation; flushing and/or sweating of forehead and cheek; redness
nerves C2, C3 (usually the C1–2, C2–3 facet joints). Pain from cervical structures can be referred
of ipsilateral eye; eyelid oedema; miosis and/or ptosis; sensation of
retro-orbitally and over one-half of the head. The headache is often incorrectly diagnosed as
fullness in ear; a sense of restlessness or agitation (see FIG. 45.6 )
migraine but clinical examination of the neck helps differentiation.19 The neck may be
responsible for so-called ‘tension’ headache but clinical differentiation can be more difficult.
Page 548
Occipital neuralgia, which is uncommon, causes intermittent neuralgia or lancinating pain in the
C2 distribution and may radiate to the front orbital area (see FIG. 45.7 ).

Clinical features
The pain is usually sited in the occipital region with possible radiation to the parietal region,
vertex of skull and behind the eye (see FIG. 45.7 ). It is usually present on waking and settles
during the day. There is usually a history of trauma including an MVA or blow to the head.
Associated features include stiffness and grating of the neck. On examination there is usually
tenderness to palpation over the C1, C2 and/or C3 levels of the cervical spine, especially on the
side of the headache.

FIGURE 45.5 Typical distribution of pain in cluster headache

FIGURE 45.7 Typical distribution of pain in cervical dysfunction (right side)

Treatment
Physiotherapy modalities: hydrotherapy, muscle energy therapy, mobilisation, manipulation
(from experts) and neck exercises (very important)
 Supportive neck pillow antidepressant. Propranolol and the anti-epileptics can be considered.

Heat pack, especially for acute pain

NSAIDs for cervical spondylosis
For intractable cases consider mobilisation under general anaesthesia, injections of
corticosteroids around, or surgical section of, the greater occipital nerve for occipital
neuralgia.19
Temporal arteritis
TA is also known as giant cell arteritis or cranial arteritis. There is usually a persistent unilateral
throbbing headache in the temporal region and scalp sensitivity with localised thickening, with or
without loss of pulsation of the temporal artery. It is related to polymyalgia rheumatica—20% of
sufferers will develop TA. See CHAPTER 21 .

TA is a type of collagen disease causing inflammation of extracranial vessels, especially the

Combination headache superficial temporal artery. It usually presents as a unilateral intermittent headache in a person
over 50 years.
Combined (also known as mixed) headaches are common and often diagnosed as psychogenic
headache or atypical migraine. They have a combination of various degrees of: TA may also involve the intracranial vessels, especially the ophthalmic artery or posterior ciliary
arteries, causing optic atrophy and blindness. Vision is impaired in about one-half of patients at
tension and/or depression some stage. Once the patient goes blind it is usually irreversible.
cervical dysfunction Age: over 50 years (mean age 70 years)
vasospasm (migraine) Site: forehead and temporal region (unilateral) (see FIG. 45.8 )

drugs: analgesics (rebound), alcohol, nicotine, caffeine, NSAIDs Radiation: down side of head towards occiput
Quality: severe burning pain
The headache, which has many of the features of tension headache, is usually described Page 549
Frequency: daily, a constant ache
as a heavy deep ache ‘as though my head is ready to burst’. It tends to be constant,
being present throughout every waking moment. It tends to last for days (average 3–7) but can Duration: usually constant (getting worse)
last for weeks or months. It is often related to stress and adverse working conditions, and Onset: non-specific, tends to be worse in morning
sometimes follows an accident.
Offset: nil
Management Aggravating stress and anxiety
factors:
An important strategy is to evaluate each possible component of the headache as a stepwise trial
by an elimination process: Relieving nil
factors:
drug evaluation and modification Associated malaise, vague aches and pains in muscles (especially of neck),
features: weight loss
cervical dysfunction—physical therapy if indicated
Other pointers: intermittent blurred vision
depression
tenderness on brushing hair
tension and stress jaw claudication on eating

other psychogenic factors (e.g. conversion reaction) polymyalgia rheumatica

hypertension
vasospasm
abnormal emotional behaviour
Treatment includes cognitive therapy, reassurance that the patient does not have a cerebral
tumour and lifestyle modification. The most effective medication is amitriptyline or other
 FIGURE 45.8 Typical distribution of pain in temporal arteritis (right side) FIGURE 45.9 Typical distribution of pain of frontal sinusitis (right side)

Diagnosis Examination
Diagnosis is by biopsy and histological examination of the superficial temporal artery. The ESR There is tenderness over the frontal sinus and pain on percussion over the sinus. Ewing sign may
is usually markedly elevated but may be normal. The biopsy may be normal as TA has a focal be elicited. Fever and oedema of the upper eyelid may be present.
nature. MRI has a high sensitivity and specificity.
Management
Note: Consider it with any ‘new’ headache.
Principles of treatment
Treatment
Drain the sinus conservatively using saline nasal irrigation or steam inhalations
TA is very responsive to corticosteroids; start treatment immediately to prevent permanent
blindness. Initial medication is prednisolone 40–60 mg orally daily in two divided doses initially Use oral or intranasal antihistamine initially
for a minimum of 4 weeks. Continue until symptoms resolve. Aspirin 100 mg daily helps prevent
ischaemic events. Dose reduction and progress is monitored by the clinical state and ESR and If no response, add in an intranasal corticosteroid
CRP levels.11 Concomitant use of H2-receptor antagonists may be appropriate initially. Temporal
arteritis may take 1–2 years to resolve. Analgesics

Refer to ENT if persistent and purulent nasal discharge—pus can spread. While waiting, a
Frontal sinusitis temporary trial of oral prednisolone 25 mg may be reasonable.

The headache of frontal sinusitis can be a diagnostic problem especially in the absence Page 550 Complications
of, or a lapse in time since, an obvious upper respiratory infection or vasomotor rhinitis. Some
patients do not have a history of a preceding respiratory infection, nor any signs of nasal Orbital cellulitis
obstruction or fever. Contrary to popular belief, sinusitis is a relatively uncommon source of
headache. Subdural abscess

Clinical features Osteomyelitis

It presents typically as a frontal or retro-orbital headache (see FIG. 45.9 ). A characteristic is its Cavernous sinus thrombosis
diurnal variation, developing in the morning around 9 am, being most intense in the middle of
the day, then subsiding to offset around 6 pm. Symptoms indicating spread of infection (requires antibiotics):

increase in fever and chills

 vomiting Papilloedema (see FIG. 45.10 ) (but may be absent)

oedema of the eyelids and forehead

visual disturbances

dulling of the sensorium

convulsions

Raised intracranial pressure

Important causes of a space-occupying lesion include a cerebral tumour and subdural
haematoma. Sometimes it is not possible to differentiate between a subdural and an extradural
haematoma, although the latter classically follows an acute injury (see CHAPTER 64 ). Typical
features are generalised headache, usually worse in the morning, aggravated by abrupt changes
in intracranial pressure and later associated with vomiting and drowsiness. Headache is an
uncommon presenting symptom of a cerebral tumour. FIGURE 45.10 Papilloedema with swollen optic disc of the ocular fundus due
to raised intracranial pressure
DxT drowsiness + vomiting + seizure → raised intracranial pressure
Intracerebral tumours
Incidence is 5–10 per 100 000 population
Site: generalised, often occipital
Radiation: retro-orbital Two peaks of incidence: children <10 years3 and 35–60 years
Quality: dull, deep steady ache Main types of tumour: Page 551
Frequency: daily
children: medulloblastoma, astrocytoma (posterior fossa), ependymoma, glioma (brain
Duration: may be hours in morning stem)
Onset: worse in mornings, usually intermittent, can awaken from sleep
adults: cerebral glioma, meningioma, pituitary adenoma, cerebral metastases (e.g. lung)
Offset: later in day (if at all)
Aggravating coughing, sneezing, straining at toilet Investigations
factors:
CT scan and MRI
Relieving analgesics (e.g. aspirin), sitting, standing
factors:
Associated vomiting (without preceding nausea); vertigo/dizziness;
Subarachnoid haemorrhage
features: drowsiness; seizures; confusion (later); neurological signs SAH is a life-threatening event that should not be overlooked at the primary care level. The
(depending on side) incidence is 12 per 100 000 population per annum. About 40% of patients die before treatment,
while about one-third have a good response to treatment.

Examination Approximately 75% will present with an acute severe headache and the remainder with loss of
consciousness.
Focal CNS signs
Clinical features Consider an angioma rather than an aneurysm as the cause of SAH if previous episodes.

Sudden severe ‘thunderclap’ headache Management

Occipital location Immediate referral for possible surgical intervention is required. If there is lingering doubt,
provide ‘safety net’ instructions and review the patient within 12–24 hours.
Localised at first, then generalised

Pain and stiffness of the neck follows Meningitis

Vomiting and loss of consciousness often follow The headache of meningitis is usually generalised and radiates to the neck. It is constant and
severe and occasionally may begin abruptly. It is aggravated by flexion of the neck. Brudzinski
Confusion or a lowered consciousness level sign (neck flexion) and Kernig sign are positive (see CHAPTER 20 ). Fever and neck stiffness
are usually present. Urgent referral to hospital is necessary. If meningitis is suspected or if a
± Seizures child or adult has headache with fever and neck stiffness, antibiotics must not be given until a
lumbar puncture has been performed.
Kernig sign positive (see CHAPTER 20 )

Neurological deficit may include: hemiplegia (if intracerebral bleed), third nerve palsy (partial Medication overuse (rebound) headache
or complete) (see FIG. 45.11 )
Drug overuse can cause rebound headaches—even those drugs used to combat the symptom:
analgesics, triptans and ergotamine, typically with regular use >15 days per month for 3 months.
A long list of over-the-counter and prescription medications can cause rebound, such as aspirin,
paracetamol, ibuprofen, opioids and caffeine. The headache is present on waking and typically
persists throughout the day but fluctuates in intensity. It is a mild to moderate, dull, bilateral ache
with a distribution similar to tension headache. Drug (or alcohol) rebound headaches should be
suspected in any patient who complains of headache ‘all day, every day’. A careful drug history
should be taken. Treatment includes gradual withdrawal of the drugs, bridging therapy with a
short course of prednisolone or an NSAID such as naprosyn MR, and the substitution of anti-
FIGURE 45.11 Third nerve palsy (right side) emetics and amitriptyline or beta blocker over about 14 days.

About one-third of patients experience a ‘sentinel’ headache. Page 552

DxT occipital headache + vomiting + neck stiffness → SAH

Diagnosis
CT scanning is the investigation of choice and should be performed in the first few hours (blood
has dispersed by 6 hours). Lumbar puncture is not necessary if the diagnosis can be made by CT,
but is used if the CT scan is negative (usually 10–20% of cases). It may be falsely negative after
7 days. Homogenous blood staining of CSF and xanthochromia is a positive feature on lumbar
puncture.
Special notes
Less severe headaches can cause diagnostic difficulties.
Chronic paroxysmal hemicrania
This is a rare headache syndrome that overlaps with cluster headache and facial pain. The
unilateral pain, which can be excruciating, is located in the area of the temple, forehead, eye and
upper face. It can radiate to the ear, neck and shoulder. It differs from cluster headaches in that
the patients are invariably female, the paroxysms are short (average 20–30 minutes) and more
frequent, with attacks occurring up to 14 times a day. The disorder resembles cluster headaches
in nature and distribution and associated autonomic features, such as ipsilateral nasal stuffiness
or rhinorrhoea, lacrimation, conjunctival injection and ptosis. The aetiology is unknown but the
headache often responds dramatically to indomethacin (25 mg (o) tds).11
Post-traumatic headache
Following head trauma, this is a continuous, diffuse type of headache with associated
psychological symptoms such as dizziness, irritability and depression. Long known to be a
potential sequelae to a single severe head injury, it is being increasingly recognised in the context
of repetitive minor concussions, particularly in contact sports. Headaches can persist for 6–12
months and are best treated with aspirin or paracetamol. If unresponsive and persistent,
amitriptyline or sodium valproate can be tried.10
Low CSF pressure headache10
The most common cause is a CSF fluid leak after dural puncture. The headache is usually
present when standing or sitting and rapidly improves with lying flat. It can also be spontaneous
or due to trauma. It can be severe with nausea and vomiting. In most, resolution occurs within 2–
7 days. Treatment includes bed rest until resolution. If persistent, referral for an epidural blood
patch is recommended.
Trigeminal neuralgia
The pain of trigeminal neuralgia comes in excruciating paroxysms, which last for seconds to
minutes only and usually affect the face rather than the head (see CHAPTER 41 ). The lightning-
like jabs of searing or burning pain usually last 1 to 2 minutes but can last as long as 15 minutes.
Icepick headache
Icepick headaches are similar sudden stabbing pains lasting a few seconds usually at the temple
(often bilateral) and are more common in migraine sufferers. They can occur unpredictably 30 or
more times a day. Treatment is with indomethacin 25 mg tds.10
Hypertension headache
It tends to occur only in severe hypertension such as malignant hypertension or hypertensive
encephalopathy. The headache is typically occipital, throbbing and worse on waking in the
morning.
The headache may be psychogenic in origin, developing after the diagnosis of hypertension is
disclosed to the patient. Hypertension and headaches are two very common occurrences in
general practice, so their association does not imply causation. However, the occasional patient
has genuine headache related to milder hypertension and this serves as an accurate indicator of
their blood pressure level.
Idiopathic intracranial hypertension (pseudotumour
cerebri)
This is a rare but important sinister headache condition that typically occurs in young obese
women mainly in the second to fifth decades but can occur at any age. Key features are
headache, visual blurring and obscurations, nausea and papilloedema. It is considered to be due
to a disturbance in the CSF circulation. The CT and MRI scans are normal but lumbar puncture
reveals increased CSF pressure 25 cm H20 and normal CSF analysis.
It is sometimes linked to drugs, including tetracyclines (most common), nitrofurantoin, oral
contraceptive pill, steroids and vitamin A preparations. The main concern is visual deficits from
the high intracranial pressure. Urgent referral is essential. Medical treatment includes ceasing
causative drugs (the key), weight reduction, corticosteroids and diuretics, usually acetazolamide.
The treatment of choice to alleviate symptoms is repeated lumbar puncture. Surgery, which
involves decompression of the optic nerves or lumbo-peritoneal shunting, is sometimes required
for failed medical therapy.
DxT obese young patient + headache + visual obscurations + nausea →
idiopathic intracranial hypertension
Page 553
Headaches related to specific activities20
Sex headache
This can manifest as a dull or explosive headache, provoked by sexual arousal and activity,
especially with orgasm. Some are clearly a form of exertional headache. Sometimes sex
headache is mistaken for SAH, but if the severe headache coincided with orgasm, was not
associated with vomiting or neck stiffness, and settled within hours, SAH is unlikely. Treatment
is with prophylactic beta blockers or ergotamine 1 mg (o) 1–2 hours before sexual activity (may
induce erectile dysfunction in males).
Cough and exertional headache
Some people experience a severe transient pain with factors such as coughing, sneezing,
stooping, straining, lifting and various sporting activities. It is usually benign and examination is
normal. A CT scan is indicated if there are focal signs or if the symptoms do not settle.
Treatment is indomethacin 25 mg (o) 2–3 times daily for cough headache and 1–2 hours before
exertional activity.
Gravitational headache
Occipital headache, coming on when standing upright and relieved by lying down, is
characteristic of a postlumbar puncture, an epidural block or low-pressure headache. It can last
for several weeks after the procedure.
‘Ice-cream’ headache
Frontal or global headache can be provoked by the rapid ingestion of very cold food and drink. It
is a form of vascular headache.
 A severe headache of sudden onset is SAH until proved otherwise. It is
When to refer overlooked sometimes.

Thunderclap headache SAH is sometimes overlooked because it is not considered in the differential
diagnosis. Suspect with very severe and protracted headache, drowsiness and
Evidence or suspicion of SAH or intracerebral haematoma neck stiffness.

Prolonged neurological symptoms Medical evidence indicates that most headaches are related to fatigue, stress or
migraine triggers and respond to application of heat or cold, exercise and common
Complicated migraine analgesics, including aspirin and ibuprofen.21
Uncertain diagnosis A history of migraine with aura over the past five years is a contraindication to
Positive neurological signs despite typical headaches prescribing the combined contraceptive pill (venous thromboembolism risk).14

Isolated aura as headache The use of narcotics for migraine treatment (such as pethidine and codeine) is to
be avoided whenever possible—the frequent use of ergotamine, analgesics or
Needing acute treatment for >8–10 days a month narcotics can transform episodic migraine into chronic daily headache.4

Migraine, especially chronic and recurrent, is associated with an increased risk of

Practice tips anxiety and depressive disorders.

Anyone >55 years presenting with unaccustomed headache has an organic

disorder such as temporal arteritis (TA), intracerebral tumour or subdural
haematoma until proved otherwise. Patient education resources
The ESR is an excellent screening test to diagnose TA but occasionally can be Hand-out sheets from Murtagh’s Patient Education 8th edition: Page 554
normal in the presence of active TA.
Migraine
If a patient presents twice within 24 hours to the same practice or hospital with
headache and vomiting, consider other causes apart from migraine before Tension headache
discharging the patient.9

If migraine attacks are severe and unusual (e.g. always on the same side)
References
consider the possibility of cerebral vascular malformation.
1 World Health Organization. Headache disorders fact sheet. 8 April 2016. Available from:
CT scans and MRI have superseded other investigations in the diagnosis of https://www.who.int/news-room/fact-sheets/detail/headache-disorders, accessed March
cerebral tumours and intracranial haemorrhage but should be ordered sparingly 2021.
and judiciously.
2 Wright M. Recurrent headaches in children. Australian Paediatric Review, 1991; 1(6): 1–
If a headache is occipital in origin or accompanied by neck pain, consider the 2.
likely possibility of cervical dysfunction and refer to the appropriate therapist once
the diagnosis is established. 3 Anthony M. Migraine and tension headache. In: MIMS Disease Index (2nd edn). Sydney:
IMS Publishing, 1996: 313–16.
For recurrent migraine sufferers emphasise the importance of trigger factor
avoidance and of taking aspirin and metoclopramide medication at the earliest 4 Joubert J. Diagnosing headache. Aust Fam Physician, 2005; 34(8): 621–5.
warning of an attack.
5 Beran R. Headache in Neurology for General Practitioners. Sydney: Elsevier, 2012: 46–
 55. Page 555

6 Cormack J, Marinker M, Morrell D. The patient complaining of headache. In: Practice.

London: Kluwer Medical, 1982: 3–12.

7 Lance JW. Headache and facial pain. Med J Aust, 2000; 172: 450–5.
46 Hoarseness
8 Cheng S, Stark R. Thunderclap headache: when the risk of doing nothing is too high.
Medicine Today, 2017; 18(7): 14–19.

9 Smith L. Childhood headache. In: Australian Doctor Education, GP Paediatrics, 2005.

10 Headache [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic Hoarseness results from imperfect phonation due to impairment of normal vocal cord mobility or
Guidelines Limited; 2017. www.tg.org.au, accessed October 2017. vibration. It is an important symptom as it may signal a serious cause such as malignancy or a
disease with potential for airway obstruction.1
11 Burns R. Pitfalls in headache management. Aust Fam Physician, 1990; 19: 1821–6.

12 IHS Classification ICHD-3: 2013. Available from: www.ihs-classification.org/, accessed RAYMOND L CARROLL 1996
March 2021.
Hoarseness (dysphonia) is defined as an altered voice due to a laryngeal disorder.2 It is an
13 Day TJ. Migraine and other vascular headaches. Aust Fam Physician, 1990; 19: 1797–804. important symptom of laryngeal disease presenting in general practice, and ranges from the very
common, trivial, self-limiting condition of viral upper respiratory tract infection to a life-
14 Sexual and Reproductive Health [published 2020]. In: Therapeutic Guidelines [digital]. threatening disorder (see TABLE 46.1 ). It may be of sudden presentation lasting only a few days
Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed March 2021. or develop gradually and persist for weeks or months. The cut-off point between acute and
chronic hoarseness is three weeks’ duration, by which time most self-limiting conditions have
15 Heywood J, Zagami A. Treating acute migraine attack. Current Therapeutics, 1997; resolved. Hoarseness pertains to harsh, raspy, gravelly or rough tones of voice rather than pitch
37(12): 33–7. or volume. Rarely, hoarseness can be a functional or deliberate symptom referred to as
‘hysterical aphonia’.3 In this condition, people purposely hold the cords apart while speaking.
16 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2018: 757–9.
Table 46.1 Hoarseness: diagnostic strategy model
17 Mannix LK et al. Combination treatment for menstrual migraine and dysmenorrhea using
sumatriptan-naproxen: two randomized controlled trials. Obstet Gynecol, 2009; 114(1):
106–13. Probability diagnosis
Viral URTI: acute laryngitis
18 Linde K et al. Acupuncture for the prevention of episodic migraine. Cochrane Database of Non-specific irritative laryngitis (Reinke oedema)
Syst Rev, 2016; Issue 6: Art. No. CD001218.
Vocal abuse (shouting, screaming, etc.)
19 Anthony M. The treatment of migraine—old methods, new ideas. Aust Fam Physician, Nodules and polyps of cords
1993; 22: 1401–5. Presbyphonia in elderly: ‘tired’ voice
Acute tonsillitis
20 Hutton R, Stark R. Unusual primary headaches: keys to an accurate diagnosis. Medicine
Today, 2013; 14(10): 38–44. Serious disorders not to be missed
21 Rosser W, Shafir MS. Evidence-Based Family Medicine. Hamilton: BC Decker Inc., 1998: Cancer: larynx, lung, including recurrent laryngeal nerve palsy, oesophagus, thyroid
164–6. Imminent airway obstruction (e.g. acute epiglottitis, croup)
Other rare severe infections (e.g. TB, diphtheria)
Foreign body
Motor neurone disease regular steroid inhalation.
Aortic arch aneurysm
Think ‘hypothyroidism’ if unusual hoarseness develops.
Myasthenia gravis
Pitfalls (often missed) Laryngeal cancer must be excluded if hoarseness persists for longer than 3 weeks
in an adult. It can arise intrinsic or extrinsic to the vocal cords.
Toxic fumes
Vocal abuse Intermittent hoarseness is invariably secondary to a benign disorder. Constant or
Benign tumours of vocal cords (e.g. polyps, ‘singer’s nodules’, papillomas) progressive hoarseness suggests malignancy.
Gastro-oesophageal reflux → pharyngolaryngitis
Non-malignant vocal cord lesions, which include polyps, vocal nodules, contact
Goitre ulcers, granulomas, other benign tumours and leukoplakia, account for about half of
Vocal cord palsy all chronic voice disorders.
Dystonia
In cases of chronic hoarseness the larynx must be visualised for diagnosis but the
Physical trauma (e.g. post-intubation), haematoma
following are common:
Fungal oropharyngeal infections (e.g. Candida with steroid inhalation,
immunocompromised) children—‘screamer’s nodules’
Allergy (e.g. angioedema)
adults—non-specific irritant laryngitis
Leukoplakia
Vocal cord dysfunction Acute laryngeal oedema may develop as a component of the life-threatening acute
‘Floppy trachea’ syndrome angioedemic allergic response.
Systemic autoimmune disorders (e.g. SLE, Wegener granulomatosis, myaesthenia
gravis) Elderly or debilitated patients may exhibit a shaky or soft ‘pseudohoarse’ voice due
to a weakened respiratory effort. This is termed phonaesthenia or presbyphonia.
Seven masquerades checklist
Drugs: Contact ulcers of the larynx occur on the posterior third of the vocal cords where
the mucosa is thin. The resultant weak hoarse voice may be accompanied by
antipsychotics painful phonation. The ulcers may develop into granulomas. Apart from intubation,
anabolic steroids the condition is usually found in forceful orators who misuse their larynx when
opium users attempting to lower the pitch of their voice.3
Smoking → non-specific laryngitis
Steroids → steroid inhaler laryngitis
Hypothyroidism, acromegaly The clinical approach
Is the patient trying to tell me something?
Functional aphonia History
Functional stridor
Note the nature and duration of the voice change. Inquire about corticosteroid inhalations,
excessive or unaccustomed voice straining (especially singing), recent surgery, possible reflux,
Page 556 smoking or exposure to environmental pollutants. Elicit associated respiratory or general
symptoms such as cough and weight loss. Consider symptoms of hypothyroidism or Parkinson
Key facts and checkpoints disease.

In acute hoarseness, the diagnosis is usually obvious from the history alone. Examination
Examples include acute upper respiratory tract infection (URTI), vocal overuse or
Palpate the neck for enlargement of the thyroid gland or cervical nodes. Perform a simple
oropharyngeal examination except if epiglottitis is suspected. Check for signs of hypothyroidism,
such as coarse dry hair and skin, slow pulse and mental slowing. With chest examination listen
Management principles
for stridor. Perform indirect laryngoscopy if skilled in the procedure. Note voice characteristics
e.g.:4 Acute hoarseness

raspy—laryngopharyngeal reflux Treat according to cause.

deep—hypothyroidism, Reinke oedema Advise vocal rest or minimal usage at normal conversational level.

gravelly—vocal cord mass/nodule Avoid irritants (e.g. dust, tobacco, alcohol).

soft—Parkinson disease, vocal cord paralysis Consider inhalations and cough suppressants in cases of acute URTI and coughing paroxysms.

intermittent—functional dysphonia, vocal cord dysfunction Chronic hoarseness

strained—muscle tension dysphonia Establish the diagnosis.

Consider referral to ENT specialist.

Investigations
The following need to be considered: Hoarseness in children
Thyroid function tests. It is worth bearing in mind that stridor in infants can be caused by a congenital Page 557
abnormality of the larynx, including laryngomalacia (congenital laryngeal stridor), which is
Chest X-ray if it is possibly due to lung cancer with recurrent laryngeal nerve palsy.
particularly noticeable when the child is asleep; laryngeal stenosis (congenital laryngeal
Indirect laryngoscopy (the gag reflex may preclude this). narrowing); and laryngeal paralysis due to birth trauma of the vagus nerve. Vocal cord
paralysis/palsy is the most common laryngeal abnormality in children (20% of cases) after
Direct laryngoscopy with a flexible fibre-optic endoscope with possible biopsy (the most laryngomalacia.3
sensitive investigation).
In children exclude the acute infections—laryngotracheobronchitis (croup), tonsillitis and
The choice of imaging to detect suspected neoplasia or laryngeal trauma is a CT scan. epiglottitis.

Persistent hoarseness in kinder/primary school-aged children is due commonly to vocal cord

Red flags nodules related to vocal abuse, such as screaming and yelling, often due to noisy children’s
games.
History of significant smoking It is important to exclude a juvenile papilloma in a hoarse child.5
Dysphagia/odynophagia/otalgia
Specific conditions
Neck mass

Haemoptysis Acute laryngitis

Stridor Most cases are caused by the respiratory viruses—rhinovirus, influenza, para-influenza,
Coxsackie, adenovirus and respiratory syncytial virus—resulting in vocal cord oedema.
Constitutional, e.g. weight loss, fever Hoarseness is a useful feature to distinguish viral from bacterial upper respiratory infections,
although don’t discount group A Streptococcus. Short-term vocal abuse is also a factor. The
main symptom is hoarseness, which usually persists for 3–14 days and leads to loss of voice. It is
often self-limiting. Even speaking can be painful. Aggravating factors include smoking,
excessive alcohol drinking and exposure to irritants and pollutants, air-conditioning systems and
very cold weather.

Management
Rest at home, including voice rest (the best treatment).

Use the voice sparingly, avoid whispering.

Use a warm sialagogue (e.g. hot lemon drinks).

Drink ample fluids, especially water.

Avoid smoking, passive smoke and alcohol. FIGURE 46.1 Vocal cord nodules

Have hot, steamy showers as humidity helps.

Use steam inhalations (e.g. 5 minutes, 3 times a day).
Use cough suppressants, especially mucolytic agents.
Use simple analgesics, such as paracetamol or aspirin, for discomfort.
Antibiotics are of no use unless there is evidence of bacterial infection (unusual).
Corticosteroids are rarely indicated.
Chronic laryngitis: ‘barmaid syndrome’
This typically occurs in a heavy smoker who works in a heavy smoking environment, who is a
heavy drinker and continually talks or sings. It is a combination of vocal abuse and chemical
irritation. Hoarseness often comes and goes. Treatment involves modification of these factors
and screening for vocal cord tumours.
Benign tumours of the vocal cords
These include nodules (most common) (see FIG. 46.1 ), polyps (second most common), cysts
and papules. Vocal cord nodules, including ‘singer’s nodules’, may respond well to conservative
measures such as voice rest and vocal therapy. If not, they can be removed by microlaryngeal
surgery or laser therapy. Dependent polyps and papillomas are removed by microsurgery.
Pharyngolaryngitis
Also termed laryngopharingitis, it presents with a raspy voice, chronic throat clearing and
GORD, e.g. heartburn. If due to laryngopharyngeal reflux, treat with an 8–12 week empirical
course of proton-pump inhibitors as well as dietary and lifestyle modification.2 It tends to be
overdiagnosed, but should be referred to an otorhinolaryngologist if symptoms are persistent.4
Steroid inhaler induced laryngitis4
This common problem should be evident and readily treatable. Examine for oral thrush and, if
present, treat with antifungal medication. Check inhaler/spacer technique and advise rinsing and
gargling after use.
Page 558
Laryngeal cancer
Squamous cell carcinoma usually occurs in people with a history of chronic laryngitis, smoking
and alcohol use. Symptoms include hoarseness, stridor, haemoptysis and dysphagia. It may be
preceded by leukoplakia, which is treated by vocal cord stripping under microsurgery. The
diagnosis based on persistent hoarseness is made after fibre-optic laryngoscopy and biopsy by a
specialist. The patient may present with an unexplained cervical lymph node. The condition is
curable if detected early. Small local tumours can be treated by radiotherapy or laser therapy.
Larger tumours usually require laryngectomy and perhaps dissection of the cervical lymph nodes
(commando operation). Such radical surgery demands considerable patient support, including
education about speech, eating and tracheostomy care.

Vocal cord dysfunction6

This condition is paradoxical vocal (or fold) adduction on inspiration and abduction on
expiration, causing inspiratory airway obstruction and stridor. It tends to be misdiagnosed as
References
asthma. Apart from dyspnoea, wheezing and stridor (usually inspiratory) symptoms may include
intermittent hoarseness, chest and/or throat tightness, a noisy rasping sound and a choking or 1 Carroll RL. Hoarseness. In: MIMS Disease Index (2nd edn). Sydney: IMS Publishing,
suffocating sensation. Patients may complain about a feeling ‘like breathing through a straw’. 1996: 239–40.
Diagnosis is by observing inspiratory closure of the vocal cords with direct laryngoscopy. The
mainstay of treatment is speech therapy. 2 Bova R, McGuinness J. Hoarseness: a guide to voice disorders. Medicine Today, 2007;
8(2): 38–44.
Excessive dynamic airways collapse (‘floppy trachea’)7 3 Priestly J, Havas TE. Benign vocal fold lesions. Medical Observer, 19 November 2012: 1–
3.
Also known as adult tracheobronchomalacia, this is defined as pathological collapse and
narrowing of the airway lumen by ≥50%. It is due to laxity of the posterior membrane into the 4 Cooper L, Quested RA. Hoarseness: an approach for the general practitioner. Aust Fam
airway lumen (in the presence of structurally intact cartilage) during forced expiration. Physician, 2016; 45(6): 378–81.
Symptoms include breathing difficulty, coughing, difficulty clearing secretions, dyspnoea and
stridor. Respiratory failure and death can occur. Diagnosis is with CT scanning and fibre-optic 5 Birman C, Fitzsimons, Quayle S. Little voices: therapy update. Australian Doctor, 7 May
bronchoscopy. Treatment varies from conservative to surgery (minimal to radical). Refer to a 2004: 49–50.
respiratory physician.
6 Idrees M et al. Vocal cord dysfunction in bronchial asthma. A review article. J Asthma,
2015; 52(4): 327–35.
When to refer1
7 Murgu S, Colt H. Tracheobronchomalacia and excessive dynamic airway collapse. Clin
Acute cases that are unexplained, fail to respond by 3–4 weeks or recur; people >45 years. Chest Med, 2013; 34(3): 527–55.

All chronic cases.

Any case with stridor or non-tender cervical lymphadenopathy.

Chronic hoarseness secondary to vocal abuse—refer for voice therapy.

Practice tips
Consider intubation as a possible cause of transient hoarseness.

Consider gastro-oesophageal reflux disease in the elderly but avoid such a

diagnosis without specialist investigation for other causes.

If stridor is present with acute hoarseness, the airway is compromised. Be on

stand-by for possible emergency intervention.

Prevention is the best treatment for laryngeal cancer (i.e. quit smoking).

Recurrent laryngeal nerve palsy may be associated with cancer of the lung and
mediastinum, or diabetes, or may be idiopathic.
 Page 559

47 Jaundice

The disease is produced by black bile when it flows into the liver. The symptoms are these: ‘an
acute pain in the liver, also below the breast, a feeling of suffocation is strong during these days
and becomes less strong later’. The liver is tender to palpation and the complexion of the patient
is somewhat livid. These are symptoms that occur in the beginning but as the disease progresses,
the fever diminishes in strength and the patient feels sated after ingesting a little amount of food.
He must drink melikration [a mixture of water and honey].

HIPPOCRATES ON HEPATITIS

Jaundice is a yellow discolouration of the skin and mucosal surfaces caused by the accumulation
of excessive bilirubin.1 It is a cardinal symptom of hepatobiliary disease and haemolysis.
Important common causes include gallstones, hepatitis A, hepatitis B, hepatitis C, drugs, alcohol
and Gilbert syndrome. The commonest clinical encounter with jaundice is physiological jaundice
in the newborn. As always, the history and examination are paramount, but investigations are
essential to clinch the diagnosis of jaundice.
FIGURE 47.1 The jaundice pathway
The three major categories of jaundice are (see FIG. 47.1 ):

obstructive:
Table 47.1 Abbreviations used in this chapter
– extrahepatic

– intrahepatic Hepatitis A virus HAV

Hepatitis A antibody anti-HAV
hepatocellular
Immunoglobulin M IgM
haemolytic Immunoglobulin G IgG
Hepatitis B virus HBV
Hepatitis B surface antigen HBsAg
Hepatitis B surface antibody anti-HBs
Hepatitis B core antibody anti-HBc
Hepatitis B-e antigen HBeAg
Hepatitis C virus HCV
 Table 47.2 Jaundice (adults): diagnostic strategy
Hepatitis C virus antibody anti-HCV
model
Hepatitis D (Delta) virus HDV
Hepatitis E virus HEV Probability diagnosis
Hepatitis F virus HFV Hepatitis A, B, C (mainly B, C)
Hepatitis G virus HGV Gallstones in common bile duct
Alcoholic hepatitis/cirrhosis
Serious disorders not to be missed
Key facts and checkpoints Malignancy:
pancreas
Jaundice is defined as a serum bilirubin level exceeding 19 µmol/L.2 biliary tract
hepatocellular (hepatoma)
Clinical jaundice manifests only when the bilirubin level exceeds 50 µmol/L.1 metastases
However, jaundice is difficult to detect visually below 85 µmol/L if lighting is poor. Severe infections:
septicaemia
Jaundice can be distinguished from yellow skin due to hypercarotenaemia (dietary ascending cholangitis
excess of carrots, pumpkin, mangoes or pawpaw) and hypothyroidism because it
fulminant hepatitis
involves the sclera.
HIV/AIDS
The most common causes of jaundice recorded in a general practice population are Rarities:
(in order) viral hepatitis, gallstones, pancreatic cancer, cirrhosis, pancreatitis and Wilson disease
drugs.3 Reye syndrome
Always take a full travel, drug and hepatitis contact history in any patient presenting acute fatty liver of pregnancy
with jaundice. Pitfalls (often missed)
Acute hepatitis is usually self-limiting in patients with hepatitis A and in adults with Gallstones
hepatitis B but progresses to chronic infections with hepatitis C (curable) and Gilbert syndrome (↓ hepatic uptake)
children with hepatitis B (containable).4 Cardiac failure
Primary biliary cirrhosis
A fatty liver (steatosis) can occur not only with alcohol excess but also with obesity,
diabetes and starvation. There is usually no liver damage and thus no jaundice. Autoimmune chronic active hepatitis
Primary sclerosing cholangitis
Almost all patients with chronic hepatitis C will be cured with a course of oral direct- Chronic viral hepatitis
acting antiviral agents, but only if they are diagnosed, assessed, treated and Haemochromatosis
monitored appropriately.
Viral infections (e.g. CMV, EBV)
Leptospirosis

A diagnostic approach Seven masquerades checklist

Drugs (e.g. flucloxacillin)
A summary of the diagnostic strategy model is presented in TABLE 47.2 . Page 560 Anaemia

Is the patient trying to tell me something?

 Is the patient trying to tell me something?
Not usually applicable.
Probability diagnosis
The answer depends on the age and social grouping of the patient, especially if the patient
indulges in risk-taking behaviour or has travelled overseas.
Viral hepatitis A, B or C account for the majority of cases of jaundice.
In the middle-aged and elderly group, a common cause is obstruction from gallstones or cancer.
It is common for older people to have painless obstructive jaundice; bear in mind that the
chances of malignancy increase with age.
Alcoholic liver disease is common and may present as chronic alcoholic cirrhosis with liver
failure or as acute alcoholic hepatitis. It is worth emphasising that such patients can make a
dramatic recovery when they cease drinking alcohol.
In family practice we encounter many cases of drug-induced jaundice, especially in the elderly.
These drugs are outlined later in the chapter, under ‘Seven masquerades checklist’.
Serious disorders not to be missed
Malignancy must always be suspected, especially in the elderly patient and those with a history
of chronic active hepatitis (e.g. post-hepatitis B or C infection). The former is more likely to have
carcinoma of the head of the pancreas, and the latter, hepatocellular carcinoma (hepatoma).
Metastatic cancer must be kept in mind, especially in those with a history of surgery, such as
large bowel cancer, melanoma and stomach cancer. An enlarged, knobbly, hard liver is a feature.
Hepatic failure can be associated with severe systemic infection (e.g. septicaemia and Page 561
pneumonia), and after surgery in critically ill patients. The classic Charcot triad of
upper abdominal pain, fever (and chills) and jaundice indicates ascending cholangitis until
proved otherwise. Wilson syndrome, although rare, must be considered in all young people with
acute hepatitis. A history of neurological symptoms, such as a tremor or a clumsy gait, and a
family history is important. If Wilson disease is suspected, an ocular slit lamp examination,
serum ceruloplasmin levels (low in 95% of patients) and a liver biopsy should be performed.
Early diagnosis and treatment mean a better prognosis.
Reye syndrome is a rare and severe complication of influenza and some other viral diseases,
especially in children when given aspirin. There is rapid development of hepatic failure and
encephalopathy.
Pitfalls
Gallstones, especially in the absence of upper abdominal pain, can be overlooked, so this
possibility should be kept in mind in the elderly.
Gilbert syndrome is worth considering, especially as it is the commonest form of unconjugated
hyperbilirubinaemia. It affects at least 3% of the population and does not require treatment.
Cardiac failure can present as jaundice with widespread tenderness under the right costal margin.
It can be insidious in onset or manifest with gross acute failure. It can be confused with acute
cholecystitis. The biochemical abnormalities seen are very variable. Usually there is a moderate
rise in bilirubin and alkaline phosphatase and sometimes, in acute failure, a marked elevation of
transaminase may occur, suggesting some hepatocellular necrosis.
There are many other pitfalls for a family doctor, who may encounter the conditions very rarely,
if at all. Such disorders include:
inherited conjugated hyperbilirubinaemias (Dubin–Johnson and Rotor syndromes) caused by
faulty excretion by liver cells
haemochromatosis (associated pigmentation and diabetes)
chronic active hepatitis
primary biliary cirrhosis
primary sclerosing cholangitis (associated with ulcerative colitis)
General pitfalls
Excluding jaundice by examining the sclera in artificial light
Not realising that the sclera in elderly patients often have an icteric appearance (without
jaundice)
Omitting to take a careful history, including illicit drugs
Not referring for liver biopsy for all those with chronic hepatitis
Seven masquerades checklist
Of this group the haemolytic anaemias and drugs have to be considered.
Drug-related jaundice
Drug-induced jaundice is common and many drugs are implicated. The patterns of drug-related
liver damage include cholestasis, necrosis (‘hepatitis’), granulomas, chronic active hepatitis,
cirrhosis, hepatocellular tumours and veno-occlusive disease.4,5 Some drugs, such as
methyldopa, can initiate haemolysis.
The important drugs to consider are presented in TABLE 47.3 . Antibiotics, especially Page 562 DMARDs (e.g. methotrexate, azathioprine, ipilimumab)
flucloxacillin, amoxicillin + clavulanate and erythromycin, are commonly implicated. Immunomodulators (e.g. interferon, TNF-alpha I)
Etretinate
Table 47.3 Drugs that can cause jaundice Nitrofurantoin
Illicit drugs, e.g. MDMA/ecstasy, cocaine
Vitamin A (mega dosage)
Haemolysis
Various complementary medicines (e.g. herbal agents)
Methyldopa
Hepatocellular damage
Dose-dependent:
Haemolysis
paracetamol (can cause acute hepatic necrosis)
salicylates The person may present with the symptoms of underlying anaemia and jaundice with no
tetracycline noticeable change in the appearance of the urine and stool. The degree of haemolysis may vary
from the lemon-yellow tinge of pernicious anaemia in an elderly patient to a severe haemolytic
Dose-independent:
crisis precipitated by drugs or broad beans (favism) in a person with an inherited red cell
anaesthetics (e.g. halothane) deficiency of glucose-6-phosphate dehydrogenase (G6PD). More common causes include the
antidepressants (e.g. MAOIs, duloxetine) hereditary haemolytic anaemias, such as congenital spherocytosis and thalassaemia major.
anti-epileptics (e.g. phenytoin, sodium valproate, carbamazepine) Acquired causes include incompatible blood transfusions, malignancies (such as lymphoma),
antibiotics (a long list, e.g. penicillins, sulfonamides) severe sepsis and some drugs.
antimalarials (e.g. Fansidar) Splenomegaly occurs in most people with haemolytic anaemia, and decreased red cell survival
antiretrovirals (e.g. efavirenz, nevirapine) can be measured.
antituberculosis (e.g. isoniazid)
anti-inflammatories (e.g. NSAIDs, various) Psychogenic considerations
carbon tetrachloride
This is not really applicable for an organic problem such as jaundice. Nevertheless, the cause
cardiovascular (e.g. amiodarone, methyldopa, hydralazine, perhexiline)
may be related to lifestyle factors that the patient may be reluctant to reveal, such as sexual
statins (e.g. simvastatin) orientation or intravenous drug abuse. The GP’s skills at empathetic questioning become
Cholestasis paramount.
Anti-thyroid drugs
Chlorpromazine Red flag pointers for jaundice
Erythromycin estolate
Penicillins, esp. flucloxacillin Unexplained weight loss
Gold salts
Oral contraceptives/oestrogens Progressive jaundice including painless jaundice
Synthetic anabolic steroids (e.g. methyltestosterone) Oedema
Hypoglycaemic drugs (e.g. chlorpropamide)
Amitriptyline Cerebral dysfunction (e.g. confusion, somnolence)

Others
Allopurinol
Cimetidine (aggravated by alcohol)
The clinical approach
History viral hepatitis probable

alcoholic liver disease possible

The history should include questioning about the following:

any episodes of jaundice drug-induced hepatitis possible

change in colour of faeces and urine Pruritus:

anorexia, sore throat, weight loss, pruritus cholestasis probable

possible with all liver diseases

abdominal pain

residence and members of household Arthralgia, rash:

contact with others with hepatitis or jaundice viral hepatitis

autoimmune hepatitis
recent overseas travel

exposure to blood or blood products Examination

needle-stick injuries or exposure to needles, such as acupuncture, tattooing and intravenous The abdominal examination is very important. The liver should be palpated carefully for
drugs enlargement, consistency and tenderness under the right costal margin. Search for enlargement of
the gall bladder and the spleen. The gall bladder lies in the transpyloric line. A palpable gall
dietary history—shellfish, drinking water bladder indicates extrahepatic biliary obstruction, and splenomegaly may indicate haemolytic
anaemia, portal hypertension or viral hepatitis. Test for ascites.
sexual history and orientation
Skin excoriation may indicate pruritus, which is associated with cholestatic jaundice. Look for
drug history, including alcohol, paracetamol evidence of chronic liver disease, such as palmar erythema, easy bruising, spider naevi and
muscle wasting, and testicular atrophy and gynaecomastia. Test for hepatic flap (asterixis) and
recent medical history, including surgery Page 563
fetor, which indicate liver failure. Search for lymphadenopathy, which may be indicative of
family history—family contacts who have had jaundice, haemolytic disease and other genetic malignancy.
liver diseases
The examination should include dipstick urine testing for bilirubin and urobilinogen.
ethnic history—liable to haemolytic disease, contact with hepatitis B
A summary of the possible findings is presented in FIGURE 47.2 .
occupational history—exposure to hazards

Significance of various symptoms

Pain in the right hypochondrium:

gallstones

acute hepatitis (a constant ache)

cholecystitis

Anorexia, dark urine, fever:

 Liver function Hepatocellular
tests (viral) Haemolytic Gilbert Liver
(serological) hepatitis jaundice Obstruction syndrome metastas
Bilirubin ↑ to ↑ ↑ ↑ ↑ ↑ to ↑ ↑ ↑ ↑ up to 50 ↑ to N
unconjugated unconjugated
Alkaline ↑ <2N N ↑ ↑ ↑ >2N N ↑ ↑ to ↑ ↑
phosphatase
Alanine ↑ ↑ ↑ >5N N N or ↑ N ↑
transferase
(ALT)
Gamma- N or ↑ N ↑↑ N ↑
glutamyl
transferase
Albumin N or ↓ N N N N to ↓
Globulin N or ↑ N N N N

N: is within normal limits

Diagnostic markers for hepatitis

Hepatitis A: IgM antibody (anti-HAV)

Hepatitis B: surface antigen (HBsAg)

Hepatitis C: HCV antibody (anti-HCV)

FIGURE 47.2 Possible findings on examining the jaundiced patient
Investigations
The main investigations are FBE, LFTs and the standard viral serology for the infective causes,
particularly hepatitis A, B and C virus (also EBV and CMV).
A summary of the general findings for liver function tests is shown in TABLE 47.4 .
Consideration should be given to ordering fractionalisation of bilirubin to determine whether it is
conjugated or unconjugated (important in diagnosis of Gilbert syndrome).
Hepatobiliary imaging
Tests to identify causes such as malignancy or gallstones are now sophisticated and should be
chosen with care.
X-ray: a plain abdominal X-ray shows gallstones that are opaque (15–20%)
Transabdominal ultrasound (US): the most useful investigation for detecting gallstones and
dilatation of the common bile duct; also detects liver metastases and other diffuse liver
diseases. The rapid increase in the diagnostic label of ‘fatty liver’ parallels the increased use of
high resolution ultrasound.
HIDA scintiscan: useful in diagnosis of acute cholecystitis Page 564

Table 47.4 CT scan: for diagnosis of enlargement of the head of the pancreas and other pathology;
Characteristic liver function tests for selected types of liver disease
indicated if US unsatisfactory
 PTC: percutaneous transhepatic cholangiography: shows imaging of biliary tree jaundice and hepatosplenomegaly. Prevention is with injections of anti-D immunoglobulin for
Rh negative women at 28 and 34–36 weeks.
ERCP: endoscopic retrograde cholangiopancreatography; PTC and ERCP (best) determine the
cause of the obstruction and relieves it by sphincterotomy and removal of CBD stones Causes of pathological jaundice are presented in TABLE 47.5 Such causes demand referral.

MRCP: magnetic resonance cholangiopancreatography provides non-invasive planning for

obstructive jaundice Table 47.5 Pathological neonatal jaundice:
diagnostic strategy model (brief)
Liver isotopic scan: useful for liver cirrhosis, especially of the left lobe

Fibroscan (transient elastography) to measure liver fibrosis Probability diagnosis

Physiological: day 2–5
Specific tests
ABO incompatibility: first 24 hours
Some specific tests include: Breast milk jaundice: late first week

autoantibodies for autoimmune chronic active hepatitis and primary biliary cirrhosis Serious disorders not to be missed
ABOI: first 24 hours
carcinoembryonic antigen to detect liver secondaries, especially colorectal
Biliary atresia (conjugated)
serum iron studies, especially transferrin saturation—elevated in haemochromatosis Haemolysis: ABOI, G6PD, Rhesus incompatibility
Sepsis
alpha-fetoprotein—elevated in hepatocellular carcinoma; mild elevation with acute or chronic
liver disease (e.g. cirrhosis) Seven masquerades checklist
Drugs
serum ceruloplasmin level—low in Wilson disease
Hypothyroidism
liver biopsy Hereditary spherocytosis, other inherited disorders
Polycythaemia
EBV/cytomegalovirus serology (consider if hepatitis serology negative)

Page 565

Jaundice in children Bilirubin encephalopathy

Jaundice in the infant
Jaundice in the newborn is clinically apparent in 50% of term babies and more than 80% of
preterm.6 Icterus is therefore common and almost invariably physiologically benign. However, it
is a cause for concern as there are many other causes and investigation is needed to determine
whether the bilirubin is conjugated (always pathological) or unconjugated. If conjugated,
consider the serious biliary atresia (stools are white); also a cyst obstructing the bile duct or
neonatal hepatitis. Prompt referral is essential.
Unconjugated bilirubin can be regarded as a neurological poison. With increasing serum levels
an encephalopathy (which may be transient) can develop, but if persistent can lead to the
irreversible brain damage known as kernicterus. The level of bilirubin causing kernicterus is
totally unpredictable, but a guideline as a cause for concern in babies with Rh disease is a serum
unconjugated bilirubin of 340 µmol/L (20 mg/dL).
Guidelines for treatment for hyperbilirubinaemia (at 24–36 hours)—an example:
>285 µmol/L—phototherapy

Jaundice occurring in the first 24 hours after birth is not due to immature liver function but is >360 µmol/L—consider exchange transfusion
pathological and usually due to haemolysis consequent on blood group incompatibility. In
primigravidas it is usually due to ABO incompatibility. Rhesus factor is the most severe form of An example of a normogram is presented in FIGURE 47.3 .
alloimmune haemolytic disease of the newborn. At birth, it presents with hydrops, anaemia,
 These children require follow-up developmental assessment including audiometry.

Breast milk jaundice

If the secondary causes of prolonged jaundice are excluded, the baby is well and breastfeeding,
the likely cause of unconjugated elevated bilirubin is breast milk jaundice. It occurs in 2–4% of
breastfed infants. It usually begins late in the first week and peaks at 2–3 weeks. Diagnosis can
be confirmed by suspending (not stopping) breastfeeding for 24–48 hours, although some
doctors recommend against this. The serum bilirubin falls and then breastfeeding can continue.
The mother, who can express milk for this short period, must be reassured that there is nothing
wrong with the milk and advised to resume.

Jaundice in older children

Viral infection is the commonest cause of jaundice in the older child, especially hepatitis A and
hepatitis B. It is uncommon for viral hepatitis to become chronic in childhood.

Jaundice in the elderly

FIGURE 47.3 Typical normogram for decision making in healthy infants with If an elderly person presents with jaundice the usual causes and investigations have to be
jaundice considered. Obstructive jaundice is the commonest form of jaundice in the elderly and may be
caused by gallstones blocking the common bile duct (may be painless) and carcinoma of the
head of the pancreas, the biliary tract itself, the stomach or multiple secondaries for other sites.
Physiological jaundice While it is not uncommon for a gallstone to produce marked obstructive jaundice and yet be
painless, it is appropriate to adhere to the old adage that painless obstructive jaundice is due to
This mild form of jaundice, which is very common in infants, is really a diagnosis of exclusion. neoplasm—particularly if the gall bladder is palpable (Courvoisier’s law).
In a term infant the serum bilirubin rises quickly after birth to reach a maximum by day 3–5, then
declines rapidly over the next 2–3 days before fading more slowly for the next 1–2 weeks. Alcoholic liver disease, although most frequently affecting those aged 40 to 60 years, can present
Management includes phototherapy. for the first time over age 60 years. The commonest cause of hepatocellular jaundice in the
elderly is probably alcoholic cirrhosis; hepatitis A is still relatively uncommon in old persons.
ABO blood group incompatibility
Drugs do not cause jaundice in the elderly as frequently as they once did, particularly as
This is antibody-mediated haemolysis (Coomb test positive): phenothiazines, especially chlorpromazine, are not prescribed as often as previously. However,
drugs should be considered as a potential cause and a careful check of the drug history is
Mother is O important.

Child is A or B
Infective causes of jaundice
Jaundice develops within first 24 hours.
A generation ago hepatitis A (infectious hepatitis or yellow jaundice) was the commonest
Page 566 recognised form of viral hepatitis, presenting usually with an abrupt onset of fever, anorexia,
Treatment nausea and vomiting. It usually occurred in epidemics and hence was common in overcrowded
institutions and camps. Now hepatitis B and C are the most commonly reported types of viral
Perform a direct Coomb test on infant. hepatitis with an onset that is more insidious and with a longer incubation period.4,7 Symptoms
include malaise, anorexia, nausea and polyarthritis. Acute hepatitis C is often subclinical.
Phototherapy is required immediately.
The various forms of hepatitis are summarised in TABLE 47.6 . All forms of hepatitis are
Antigens HAV Ag HBsAg, HCV Ag HDV Ag HEV Ag
common in developing countries and travellers are at risk of contracting these infections:
HBcAg,
hepatitis A and E from faeco-oral transmission; and hepatitis B, C, D and G from intravenous
HBeAg
drugs and bodily fluids (from sexual transmission, in particular, for hepatitis B).
Diagnosis— anti-HAV HBsAg anti-HCV anti-HDV anti-HEV
antibodies anti-HBc
Table 47.6 Characteristic profiles of viral hepatitis A–E anti-HBs
Vaccine Hepatitis A Hepatitis B None Hepatitis B None
Characteristic Hepatitis A Hepatitis B Hepatitis C Hepatitis D Hepatitis E
vaccine vaccine vaccine
Pseudonyms Infectious Serum Parenterally Delta Enterically
Curable No No Yes No Variable
hepatitis hepatitis transmitted hepatitis transmitted
progression
non-A, non- non-A, non-B
B
Agent (virus) 27 nm RNA 42 nm 50 nm RNA 35 nm 30 nm RNA
DNA RNA Evidence points to more viruses causing non-ABC hepatitis.8 Hepatitis F virus has been claimed
Transmission Faecal–oral Blood Infected Blood and Faecal–oral to be transmitted enterically while the newly designated hepatitis G virus (HGV) is transmitted
Contaminated and other blood other body Contaminated parenterally. It does not appear to cause a severe illness in recipients. It can be predicted that the
water/food body ?Other fluids water/food hepatitis alphabet will continue to expand.
fluids body fluids In hepatitis A, liver damage is directly due to the virus, but in hepatitis B and C it is due to an
Mother to immunologic reaction to the virus.
child
Incubation 15–45 days 40–180 14–180 30–50 15–45 days Other infections that can present with jaundice as part of a systemic disease are malaria, Epstein–
period days days days Barr mononucleosis, cytomegalovirus, Q fever, toxoplasmosis, syphilis, leptospirosis and, rarely,
measles, varicella, yellow fever, rubella, herpes simplex, dengue fever, Lassa fever and Marburg
Severity of Mild to Mild to Mild to Moderate Mild to and Ebola virus.
acute illness moderate; severe; moderate; to severe; moderate;
often jaundice often high often
subclinical—no common; subclinical mortality; subclinical
Hepatitis A
jaundice arthralgia usually
Hepatitis A is becoming relatively less prevalent in developed countries. It is enterically
and rash jaundice
transmitted and arises from the ingestion of contaminated food, such as shellfish, or water. There
common
is no carrier state and it does not cause chronic liver disease. Hepatitis A most often causes a
Chronic liver No Yes 10– Yes 65– Yes No subclinical or self-limited clinical illness.
disease 15% 80% Potentially
worst Clinical features
Carrier state No Yes Yes Yes No Pre-icteric (prodromal) phase:
Risk in Yes, applies to all A–E: East and South-East Asia, Asian subcontinent (e.g.
anorexia, nausea ± vomiting
travellers India), South Pacific Islands (e.g. Fiji), sub-Saharan Africa, Mexico, Russia,
other developing countries. A and E with poor sanitation; B, C, D also with IV malaise
drug use; B, D sexual contact.
headache

distaste for cigarettes in smokers

 mild fever Do not use tea-towels to dry dishes.

± diarrhoea Page 567 Prevention

± upper abdominal discomfort Simple health measures such as good sanitation, effective garbage disposal and handwashing are
probably responsible for the major decrease in the disease. Immune serum globulin
Icteric phase (many patients do not develop jaundice): (0.03–0.06 mL/kg IM) confers satisfactory passive immunity for close contacts (within 2 weeks
of contact) and for travellers to endemic areas for up to 3 months. An active vaccine consisting
dark urine
of a two-dose primary course is the best means of prevention.
pale stools
Hepatitis B
hepatomegaly
Hepatitis B has protean clinical manifestations. Transmission is by blood spread, percutaneous,
splenomegaly (palpable in 10%) sexual transmission, perinatal spread or by close prolonged family contact. Infection may be
subclinical or self-limited acute hepatitis. Fulminant hepatitis is rare. Five per cent of subjects go
Recovery usually in 1–10 weeks (average 6 weeks). on to become chronic carriers of the virus. Most are ‘healthy carriers’ but some may develop
chronic active hepatitis, cirrhosis and hepatoma. The serology of hepatitis B involves antibody
Fulminant hepatitis with liver coma and death may occur but is rare.
responses to the four main antigens of the virus (core, DNA polymerase, protein X and surface
antigens). Passive and active vaccines are available, and should be used freely in groups at risk,
Investigations including babies of infected mothers. High-risk groups are presented in TABLE 47.7 . The
clinical features are the same as those found in hepatitis A infection but may be less abrupt in
LFTs and viral markers confirm the diagnosis. The antibodies to HAV are IgM, which indicates
active infection, and IgG antibodies, which means past infection and lifelong immunity and onset but more severe in the long term.7 A serum sickness-like immunological syndrome may be
seen with transient rashes (e.g. urticaria or a maculopapular rash), and polyarthritis affecting
which is common in the general population. Ultrasound is useful to exclude bile duct obstruction,
especially in an older patient. small joints in up to 25% of cases in the prodromal period.

Outcome and treatment Table 47.7 Higher-risk groups for contracting hepatitis B
Hepatitis A has an excellent prognosis with most patients making a complete recovery, and (vaccination advisable)7
patients should be reassured. The mortality is less than 0.5%. Admission to hospital is not
usually necessary. There is no specific treatment, so management is as follows.
Babies born to hepatitis B positive (carrier) mothers
Provide appropriate reassurance and patient education. Migrants from high prevalence regions, e.g. Africa, Asia
Garbage collectors
Rest as appropriate.
Health care workers
Follow a fat-free diet.
Household contacts of hepatitis B carriers
Avoid alcohol, smoking and hepatotoxic drugs (until recovery). Institutionalised people with intellectual disability

Advise on hygiene at home to prevent spread to close contacts and family members. Hep A Users of intravenous drugs
can also be spread sexually and by IV drug use. People on kidney dialysis
Wash hands carefully after using the toilet and disinfect them with antiseptic. Page 568 Men who have sex with men
Prisoners
Do not handle food for others with your fingers.
Recipients of blood or blood products (prior to testing)
Do not share cutlery and crockery during meals.
 Sex industry workers Page 569
Sexual partners of hepatitis B carriers (especially acute HBV)
Travellers to endemic areas
Practice tip
Phase 2: Spontaneous seroconversion <30 years has a favourable long-term
prognosis, but if prolonged, hepatic fibrosis and cirrhosis may develop. These
Investigations5,9,10 complications and hepatocellular carcinoma are a high risk in phase 4.
The main viral investigation for HBV is HBsAg (surface antigen), which is searched for
routinely. If detected, indicating hepatitis B positive or carrier, a full viral profile is then formed.
Furthermore, liver histological activity is classified as mild; moderate to severe; nil or minimum
HBeAg is a soluble protein from the pre-core and core. Antibodies develop to both HBsAg and
HBeAg. or moderate to severe active (see FIG. 47.5 ).11

HBsAg may disappear or persist. Its presence indicates a current or chronic infection as well as a
carrier state (see FIG. 47.4 ).

FIGURE 47.5 Typical disease models of chronic hepatitis B (CHB) infection

Source: Reproduced with permission from Hepatitis B Foundation. Diagnosed With Chronic Hepatitis B? What Phase – HBeAg-
Positive Chronic Hepatitis/Immune Reactive/Immune Clearance? 2013. https://www.hepb.org/blog/diagnosed-with-chronic-hepatitis-
b-what-phase-immune-clearance/

FIGURE 47.4 Time course of acute hepatitis B infection Serological patterns

Chronic hepatitis B (carriage) is defined as the presence of HBsAg for at least 6 months. The
Acute hepatitis B
typical natural history model of chronic hepatitis B infection is outlined in FIGURE 47.5 .
HBsAg +ve, anti-HBcIgM +ve, anti-HBs −ve
The revised four phases of the chronic infection are:
Chronic hepatitis B
1. Immune tolerant—HBeAg +ve; normal LFTs
HBsAg +ve, anti-HBcIgG +ve, anti-HBs −ve
2. Immune clearance—HBeAg +ve or −ve chronic hepatitis; abnormal LFTs
Resolved hepatitis B
3. Immune control—inactive carrier (residual) state; HBeAg −ve; normal LFTs
HBsAg −ve, anti-HBcIgG +ve, anti-HBs +ve
4. Immune escape (reactivation)—HBeAg −ve; anti-HBe +ve; abnormal LFTs
 Serology guidelines
HBsAg = acute or persistent infection; carrier

anti-HBs = past infection and immunity

HBeAg = highly infectious; high viral replication

HBV DNA = circulating and replicating virus

anti-HBc IgM = recent and continuing infection

anti-HBc IgG = past infection

anti-HBe = seroconversion

Monitoring and outcome9, 10

The possible course of events is shown in FIGURE 47.6 . The majority recover completely with
the outcome depending on several factors, including the virulence of the virus and the immune
state and age of the patient. Some will develop chronic hepatitis, some will develop a fulminant
course, and others will become asymptomatic carriers and present a health risk to others. FIGURE 47.6 Natural history of (a) hepatitis B infection; (b) hepatitis C
infection
Source: Reproduced with permission from W Sievert, B Katz, Department of Gastroenterology, Monash Medical Centre.

Monitor progress with 6–12 monthly LFTs, HBeAg and HBV DNA.

Negative HBsAg and HBV DNA (with anti-HBe) = resolving, with anti-HBs = full recovery.

Positive HBsAg and HBV DNA = replicating and infective—refer.

Monitor LFTs every 6 months. Refer if ALT elevated.

Treatment5
The aim of treatment is prolonged suppression. There is no specific treatment initially—
appropriate reassurance and patient education are necessary. Advise avoidance of alcohol. Avoid
certain drugs, e.g. sedatives, NSAIDs, OCP, until recovery (normal LFTs). Advise about
prevention of transmission, especially safe sex and sharing needles. Refer to a liver
transplantation centre if encephalopathy or severe coagulopathy develop. Treatment of chronic
hepatitis B infection (abnormal LFTs) is with the immunomodulatory and antiviral agents—
peginterferon alpha-2a and entecavir, tenofovir or other agents. Long term, this is expensive but
it achieves permanent remission in 25% of patients, and temporary remission in a further 25%.7
Liver transplantation has been performed, but is often followed by recurrence of hepatitis B in
the grafted liver. Follow up with regular LFTs and alpha-fetoprotein screening. It is appropriate
to refer any HBsAg positive patient with an abnormal ALT and/or signs of chronic liver disease
to a specialist since the evaluation of chronic hepatitis B can be complex.4

Prevention
Active immunisation using a course of three hepatitis B vaccinations has been a major
breakthrough in the management of this serious illness. If there is a negative antibody response
after 3 months, revaccinate with a double dose. If the response is positive, consider a test in 5
years with a view to a booster injection.

For non-immune patients at risk (e.g. after a needle-stick injury), hepatitis B immunoglobin
(HBIg), which contains a high level of HBV surface antibody, is appropriate.

Prenatal screening of pregnant women and appropriate use of HBIg and HB vaccine is Page 570
useful in preventing perinatal vertical transmission of HBV. FIGURE 47.7 Time course of active hepatitis C infection

Hepatitis C5,9,12,13 Page 571

Diagnosis and progress
Hepatitis C virus is responsible for most cases of viral hepatitis in Australia. It is primarily
contracted from intravenous drug use or tattooing. It does not seem to be spread very readily by This is by serology:
sexual contact although there is a small risk. It is also not readily spread perinatally.
HCV Ab (anti-HCV) +ve = exposure (current or past)
Clinical symptoms of hepatitis C are usually minimal (often asymptomatic), and the diagnosis is
often made after LFTs are found to be abnormal. An important feature is that there are at least six HCV-RNA +ve = chronic viraemia
major genotypes of HCV and treatment decisions are based on the genotype; thus, patients with
acute hepatitis C should have HCV genotype testing (genotype 1 to 6). –ve = spontaneous clearance

Hepatitis C infection may be self-limiting, but more commonly (in about 70% of cases) without CD4/HCV = viral load
treatment it causes a slow, relentless progression to chronic hepatitis, cirrhosis (20%) and also
hepatoma.7 See FIGURE 47.7 . The severity of hepatic fibrosis can be assessed by liver biopsy ALTs on LFTs indicate disease activity (tested 3 times over next 6 months)
or, preferably, by a non-invasive device called a fibroscan that assesses ‘hardness or stiffness’ of
ALT persistently normal = good prognosis
the liver via the technique of transient elastography. A raised ALT level that is tested three times
over the next 6 months implies disease activity. HCV RNA (a PCR test) is present when the ALT ALT ↑ ↑ = requires referral for treatment
becomes abnormal while the anti-HCV rises more slowly and may not be detectable for several
weeks. If the PCR test is negative, the hepatitis C infection has resolved. If PCR +ve + significant viral load + ALT ↑ perform HCV genotype—determines treatment

PCR –ve, ALT –ve = infection clear

Treatment5,13
General strategies to prevent progression include cease or minimise alcohol and cannabis use,
quit smoking, lose weight and vaccinate against hepatitis A and B. The widespread use of the
direct-acting antivirals (DAAs) taken daily by mouth (usually for 8 or 12 weeks) has
dramatically improved the prognosis, and a cure can now be expected in more than 90%. Side
 effects of fatigue, headache, nausea and insomnia are uncommon and typically mild, not MSM who have practised unsafe sex
necessitating treatment cessation.14 The determination of genotype and viral load, as well as
hepatic status, will identify those most likely to respond to therapy. Kidney dialysis patients

Examples of DAAs are: Sex industry workers

protease inhibitors, e.g. simeprevir Those with abnormal LFTs with no obvious cause

nucleotide polymerase inhibitors, e.g. sofosbuvir Those with tattoos/body piercing

non-nucleotide inhibitors, e.g. dasabuvir Prevention of transmission of hepatitis B and C viruses

NS5A inhibitors, e.g. daclatasvir, ledipasvir Advice to those who are positive for HBV and HCV:

These agents are given in combination according to the genotype. Treatment can be managed Do not donate blood or any body organs or tissues.
within general practice, in collaboration with a specialist gastroenterologist.15
Do not share needles.
The recommended steps for pretreatment assessment are:15,16
Advise health care workers, including your dentist.
1. Confirm the diagnosis of chronic HCV infection.
Do not share intimate equipment such as toothbrushes, razors, nail files and nail scissors.
2. Test for hepatitis C virus genotype and viral load.
Wipe up blood spills in the home with household bleach.
3. Document the HCV treatment history.
Cover up cuts or wounds with an adequate dressing.
4. Evaluate comorbidity and liver status, especially cirrhosis (refer if present), FBE, APRI, LFTs,
blood glucose, creatinine U and E, HIV, HBV. Dispose of bloodstained tissues, sanitary napkins and other dressings safely.

5. Discuss contraception and pregnancy (if applicable). Use safe sex practices such as condoms.

6. Consider concomitant medication. Avoid tattooing.

7. Assess adherence to treatment. Hepatitis D

8. Select treatment regimen (8 or 12 weeks) and review potential drug interactions.
9. Consult with a specialist.
10. Treat and monitor.
Cure is defined as undetectable plasma HCV RNA at least 12 weeks after cessation of treatment.
Note: DAAs are implicated with reactivation of HBV.
Hepatitis D is a small defective virus that lacks a surface coat. The coat is provided by the
hepatitis B virus, and so hepatitis D infection occurs only in patients with concomitant hepatitis
B.
It is usually spread parenterally and if chronic is usually associated with progressive disease with
a poor prognosis. Treatment with peginterferon for 48 months has a variable success rate.
Antibodies to the delta virus, both anti-HDV and anti-HDV IgM (indicating a recent infection) as
well as HDV Ag can be measured.17 Referral to a specialist is recommended.

Those at increased risk of having hepatitis B and C Markers of cirrhosis in infective hepatitis:

increased INR
Blood transfusion recipients (prior to HBV and HCV testing)
thrombocytopenia
Intravenous drug users (past or present)
 hypoalbuminaemia Extrahepatic
Cancer of bile ducts
AST/ALT ratio >1
Cancer of pancreas
Page 572
Other cancer: primary or secondary spread
Hepatitis E Cholangitis
Hepatitis E is an enterically transmitted virus that occurs in outbreaks in certain countries with a Primary sclerosing cholangitis (?autoimmune)
poor water supply, such as some Asian subcontinent countries. Epidemiologically, HEV behaves IgG4-related disease
like HAV, with well-documented water-borne epidemics in areas of poor sanitation. There is a
high case fatality rate in endemic areas (10–20%) and in pregnant females. Common bile duct gallstones
Pancreatitis
Hepatitis F Postsurgical biliary stricture or oedema
Researchers claim to have identified HGF virus, which is spread enterically.18 Treatment can be
comfortably managed within general practice.
Symptoms
Hepatitis G Jaundice (greenish tinge)
HGV has been identified as a transfusion-spread virus. It has subsequently been found to be Dark urine and pale stools
prevalent among Queensland blood donors.10,19
Pruritus—worse on palms and soles
Cholestatic jaundice Pain varies from nil to severe
Cholestasis refers to the syndrome of biliary obstructive jaundice whereby there is obstruction to
the flow of bile from the hepatocyte to the duodenum, thus causing bilirubin to accumulate in the Gallstones and jaundice
blood. It is classified into two main groups:
Gallstones can be found in the following (see FIG. 47.8 ):
intrahepatic cholestasis—at the hepatocyte or intrahepatic biliary tree level
gall bladder (asymptomatic up to 75%)—the majority remain here
extrahepatic cholestasis—obstruction in the large bile ducts by stones or bile sludge
neck of gall bladder (biliary ‘colic’ or acute cholecystitis)
The significant causes are listed in TABLE 47.8 .
cystic duct (biliary ‘colic’ or acute cholecystitis)

Table 47.8 common bile duct—may cause severe biliary ‘colic’, cholestatic jaundice or cholangitis
Significant causes of cholestasis in
adults

Intrahepatic
Alcoholic hepatitis/cirrhosis
Drugs
Primary biliary cirrhosis
Viral hepatitis
 DxT fever (often with rigor) + upper abdominal pain + jaundice → acute
cholangitis

Older patients can present with circulatory collapse and Gram-negative septicaemia. Urgent
referral is necessary.

Carcinoma of head of the pancreas

Pancreatic cancer is the fourth commonest cause of cancer death in the UK and US.17

Clinical features
M>F

Mainly >60 years of age

Obstructive jaundice

Pain (over 75%)—epigastric and back

Enlarged gall bladder (50–75%)

FIGURE 47.8 Clinical presentation of gallstones
Possible features
Acute cholecystitis is accompanied by mild jaundice in 25% of cases, due to accompanying
common duct stones.17 Weight loss, malaise, diarrhoea

Common bile duct stones may be asymptomatic or may present with any one or all of the triad of Migratory thrombophlebitis
abdominal pain, jaundice and fever. The jaundice varies, depending on the amount of
obstruction. The liver is moderately enlarged if the obstruction lasts for more than a few hours. Palpable hard, fixed mass

The investigations of choice for cholestatic jaundice are ultrasound and ERCP. Metastases (e.g. left supraclavicular gland of Virchow—Troisier sign)

Page 573
Occult blood in stool

Acalculous cholecystitis Glycosuria

Acute—in very ill patients often with diabetes. Diagnosis

Chronic—associated with polyps, sludge or inflammation. Scanning by ultrasound or CT scan may show mass

Acute cholangitis ERCP

DxT jaundice + constitutional symptoms (malaise, anorexia, weight loss)

This is due to bacterial infection of the bile ducts secondary to abnormalities of the bile duct,
especially gallstones in the common duct. Other causes are neoplasms and biliary strictures. + epigastric pain (radiating to back) → pancreatic cancer

Charcot triad (present in 70%) is shown in the diagnosis box.

Prognosis Causes
Prognosis is poor: 5-year survival rates vary from 5–11%. Common:

alcohol excess
Cirrhosis of the liver
chronic viral hepatitis (esp. HBV, HCV)
Cirrhosis is accompanied by jaundice as a late and serious manifestation with the exception of
primary biliary cirrhosis, where jaundice appears before advanced liver failure. The development Others:
of jaundice usually indicates that there is minimal hepatic reserve and is therefore found in
conjunction with other signs of liver failure (see FIG. 47.9 ). autoimmune chronic active hepatitis

primary biliary cirrhosis (autoimmune)

haemochromatosis

Wilson disease

drugs (e.g. methotrexate)

cryptogenic (no cause found)

Clinical features
Anorexia, nausea ± vomiting

Swelling of legs

Abdominal distension

Bleeding tendency

Drowsiness, confusion or coma (if liver failure)

Signs
Spider naevi (distribution of superior vena cava)

Palmar erythema of hands

Peripheral oedema and ascites

Jaundice (obstructive or hepatocellular)

Enlarged tender liver (small liver in long-term cirrhosis)

Ascites
FIGURE 47.9 Possible features of chronic alcoholic liver disease
Gynaecomastia
 ± Splenomegaly (portal hypertension) Alcoholic liver disease
Investigations The main effects of alcohol excess on the liver are:
FBE acute alcoholic liver disease

Fibroscan fatty liver

± Biopsy alcoholic hepatitis (progresses to cirrhosis if alcohol consumption continues)

Complications alcoholic cirrhosis

Ascites If diagnosed, patients are advised to stop drinking alcohol for life except for fatty liver when
small amounts can be drunk later.
Portal hypertension and GIT haemorrhage

Portosystemic encephalopathy
Hepatoma
Kidney failure
Page 574
Autoimmune chronic active hepatitis (ACAH)5
Also termed idiopathic ACAH, this usually affects young females (10–40 years) who present
insidiously with progressive fatigue, anorexia and jaundice. Diagnosis is made by abnormal
LFTs (which should raise suspicion), positive smooth muscle antibodies, a variety of other
autoantibodies and a typical liver biopsy. If untreated, most patients die within 3–5 years.
Treatment is with prednisolone orally, monitored according to serum alanine aminotransferase
levels, and supplemented with azathioprine or mercaptopurine. About 80% respond, while 20%
develop chronic liver disease. Specialist referral is advisable.
Primary sclerosing cholangitis5
This uncommon inflammatory disorder of the biliary tract presents with progressive jaundice and
other features of cholestasis such as pruritus. It is often associated with ulcerative colitis.
Diagnosis is based on characteristic cholangiopancreatography findings. There is no specific
therapy, but refer for possible ERCP. Ursodeoxycholic acid may benefit some patients. Patients
have an increased risk of colorectal cancer.
Fatty liver
Alcohol can cause hepatic steatosis (fatty liver), which is almost universal in obese alcoholics.
Non-alcoholic causes include obesity, diabetes mellitus, hypertriglyceridaemia and
corticosteroids. A significant number with this very common condition (one in five Australians)
will develop cirrhosis. Fatty liver is usually asymptomatic but some complain of malaise and
tiredness. Serology is unhelpful. Diagnosis is by liver biopsy and perhaps CT scan. The
treatment is weight loss through diet, which improves liver function and reduces fatty deposits.
Haemochromatosis
See CHAPTER 23 .
Special patient groups
The returned overseas traveller
The overseas traveller presenting with jaundice may have been infected by any one of the viruses
—hepatitis A, B, C, D or E. All are prevalent in developing countries, especially in south-eastern
and eastern Asia, some Pacific islands and Africa.
Other causes to consider are malaria, ascending cholangitis and drug-induced hepatic damage
due to, for example, the antimalarials, including mefloquine (Lariam) and Fansidar. Refer to
CHAPTER 129 .

Primary biliary cirrhosis5 Jaundice during pregnancy

This is an uncommon cause of chronic liver disease that often presents with pruritis, Page 575 Important hepatic disorders in pregnancy leading to jaundice are intrahepatic cholestasis of
malaise and an obstructive pattern of liver biochemistry. Found mainly in women. Treatment is pregnancy, acute fatty liver of pregnancy and severe pre-eclampsia. Delivery is advisable at 37–
with ursodeoxycholic acid orally. 38 weeks.

Postoperative jaundice
There are many possible causes of postoperative jaundice either in the immediate or the long-
term postoperative phase. Hypoxia associated with shock in a severely ill patient or in a patient
with cardiopulmonary disease may lead to transient abnormalities in liver function. Other causes
include:
post-transfusion hepatitis
coincident viral hepatitis
drugs, including anaesthetics
transfusion overload (haemolysis)
sepsis
unmasked chronic liver disease and biliary tract disease
cholestasis: post major abdominal surgery
Neonates of HBeAg positive mothers
These neonates should have the following (see CHAPTER 101
hepatitis B immunoglobulin IM within 24 hours of birth
hepatitis B vaccine at birth, 1 month and 6 months
The vaccine may fail because some infants can be infected in utero.
When to refer
All patients with fulminant hepatitis
All patients with chronic liver disease or cirrhosis
Painless obstructive jaundice
Evidence of malignancy
Symptomatic gallstones
Acute fatty liver of pregnancy (very urgent)
Suspected rare conditions (e.g. Wilson syndrome)
Page 576
Practice tips
All drugs should be suspected as potential hepatotoxins.
With hepatitis A, the presence of IgM antibodies reflects recent infection, and IgG
antibodies indicate past infection and lifelong immunity.
There is no chronic carrier state of hepatitis A and E.
All patients with jaundice should be tested for hepatitis B surface antigen (HBsAg).
Hepatitis B infection is usually benign and short-lived, but it can be fatal if chronic
hepatitis develops, which may lead later to cirrhosis and hepatocellular carcinoma.
Up to 5% of patients with hepatitis B will become chronic carriers (especially users
of IV drugs).
Such carriers are identified by persistent titres of HBsAg and possibly HBeAg, the
latter indicating the presence of the whole virus, and active replication and high
infectivity.
): A raised gamma-glutamyl transferase accompanied by a raised MCV is a good
screening test for alcohol abuse.
A systolic murmur may be heard over the liver in alcoholic hepatitis and
hepatoma.
A distaste for smoking (with jaundice) suggests acute viral hepatitis.
Life expectancy is short with ascites.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Fatty liver
Gallstones
Hepatitis A
Hepatitis B
Hepatitis C
 18 Deka N, Sharma MD, Mukerjee R. Isolation of the novel agent from human stool that is
References associated with sporadic human hepatitis. J Virol, 1994; 68: 7810–15.

1 Kincaid-Smith P, Larkins R, Whelan G. Problems in Clinical Medicine. Sydney: 19 Moaven LD et al. Prevalence of hepatitis G virus in Queensland blood donors. Med J Aust,
McLennan & Petty, 1989: 251. 1996; 165: 369–71.

2 Coffman D, Chalstrey J, Smith-Laing G. Gastrointestinal Disorders. Edinburgh: Churchill

Livingstone, 1986: 106.

3 Sandler G, Fry J. Early Clinical Diagnosis. Lancaster: MTP Press, 1986: 468–90.

4 Croagh C, Desmond D. Viral hepatitis: an A, B, C guide. Medicine Today, 2007; 8(7): 47–
56.

5 Viral hepatitis. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic Guidelines

Limited. www.tg.org.au, accessed October 2019.

6 Gwee A, Rimer R, Marks M. Paediatric Handbook (9th edn). Melbourne: Blackwell

Science, 2015: 335–6.

7 Ruff TA, Gust I. Hepatitis, viral (acute and chronic). In: MIMS Disease Index (2nd edn).
Sydney: IMS Publishing, 1996: 226–30.

8 Bowden DS, Moaven LD, Locarnini SA. New hepatitis viruses: are there enough letters in
the alphabet? Med J Aust, 1996; 164: 87–9.

9 Cossart Y. Recent advances in diagnosis and management of viral hepatitis. Common

sense pathology. RCPA + Australian Doctor, 2006: 2–8.

10 World Health Organization. Guidelines for the prevention, care and treatment of persons
with chronic hepatitis B infections. Geneva: WHO, 2015.

11 Liaw YF, Chi CM. Hepatitis B viral infection. Lancet, 2009; 373: 582–92.

12 Singal DK, George J. Chronic hepatitis C. Australian Doctor, 15 February 2001: i–viii.

13 Webster DP, Klerneman P, Dusheiko GM. Hepatitis C. Lancet, 2015; 385(9973): 1124–
35.

14 Khoo A, Tse E. A practical overview of the treatment of chronic hepatitis C virus

infection. AJGP, 2016; 45(10): 718–20.

15 Baker D. Curing hepatitis C in general practice. A 12-step guide. Medicine Today, 2016;
17(10): 14–22.

16 Strasser S. Managing hepatitis C in general practice. Aust Prescr, 2017; 40: 64–9.

17 McPhee SJ et al. Current Medical Diagnosis and Treatment (49th edn). New York: The
McGraw-Hill Companies, 2010: 636.
 Page 577
Nasal polyps Blockage, reduced sense of smell
Nasal tumour Blockage, unilateral discharge, epistaxis
Adenoidal hypertrophy Bilateral blockage, snoring, halitosis
Nasal vestibulitis Local pain, crusting, malodour
48 Nasal disorders
Nasal discharge is a common and important symptom to evaluate. The characteristics of nasal
discharge are summarised in TABLE 48.2 .

The face of Mrs Gamp—the nose in particular—was somewhat red and swollen, and it was
difficult to enjoy her society without becoming conscious of the smell of spirits. Table 48.2 Characteristics of nasal discharge

CHARLES DICKENS (1812–1870), MARTIN CHUZZLEWIT Nature of discharge Think of

Blood Neoplasia, trauma, bleeding disorder, rhinitis, infection,
Disorders of the nose, which include the everyday problems of rhinitis, postnasal drip, epistaxis, hypertension
folliculitis and disorders of smell, are very common in everyday general practice.
Mucopurulent Bacterial rhinitis, foreign body
The main functions of the nose are: Serosanguineous Neoplasia, foreign body
airflow Watery/mucoid Viral rhinitis, allergic rhinitis, vasomotor rhinitis, CSF

filtration—of dust, organisms and other air-borne particles

olfaction (smell)
self-cleansing and moisturising of the mucous membrane
humidification and warming of air in its passage to the lungs
A major presenting problem is nasal obstruction with the complaint of a blocked or ‘stuffy’ nose.
In those without a current URTI, common causes are physiological (the nasal cycle),
rhinosinusitis (allergic or non-allergic), polyps, adenoid hypertrophy and mechanical such as
septal deformity.

vocal resonance Red flag pointers for nasal disorders

The main symptoms of nasal disorders are discharge, blockage, sneezing, anosmia, itching, Unilateral nasal ‘polyp’
postnasal drip, bleeding and snoring (see TABLE 48.1 ).1
Unilateral bloodstained discharge

Table 48.1 Typical symptoms for nasal disorders2 Toddler with offensive nasal discharge, esp. unilateral

Post-traumatic periseptal swelling

Foreign body Unilateral discharge, unilateral blockage
Rhinitis medicamentosa
Acute sinusitis Facial pain, toothache, nasal discharge, postnasal drip
Allergic rhinitis Sneezing, rhinorrhoea, itch, eye irritation Chronic sinusitis + LRTI = ?Wegener granulomatosis
Infective rhinitis Blockage, purulent discharge, postnasal drip
Deviated septum Blockage, postnasal drip
Disorders of smell
 Chemicals (e.g. benzene, chlorine, formaldehyde, cement dust)
The basic sense of smell is detected in the olfactory region by the olfactory nerve (cranial nerve
I) while irritant sensors in the nose, mediated by the maxillary branch of the trigeminal nerve Cigarette and other smoking/inhalation
(cranial nerve V), detect some noxious odours. Drugs
Endocrine disorders (e.g. diabetes, hypothyroidism)
The disorders can be classified as:3
Frontal lobe tumour
anosmia—no smell
Parkinson disease
hyposmia—reduced smell Head trauma

hyperosmia—increased sensitivity to odours Kallmann syndrome (anosmia + hypogonadism)

Nutritional deficiencies
dysosmia—distortion of smell perception Page 578
Viral infections
cacosmia—normal odours seem foul or unpleasant

parosmia—a perverse sense of smell

The clinical approach
Disorders of smell can be caused by conductive or sensorineural disturbances, part of normal
ageing or considered as idiopathic (see TABLE 48.3 ). Conductive disorders present as anosmia History: head injury or surgery, recent URTI, drugs, occupation including chemical exposure
or hyposmia, while sensorineural disorders can present with all of the above disorders.3 Most
cases of idiopathic anosmia are considered to be viral neuropathies and may last from a few days Physical examination, including inspection via a Thudicum nasal speculum
to several months. Head trauma, which can cause conductive or sensorineural disturbances, is
considered to be caused either from a fracture of the skull involving the cribriform plate or, more Sniff test—qualitative and quantitative odours (e.g. coffee, cloves, lemon, peppermint, water
commonly, by posterior head trauma. Some patients will never recover their sense of smell. placebo). Ammonia (for irritant sensation)
There is no effective treatment. Those with anosmia lack flavour discrimination and often have
accompanying loss of sense of taste. They are also vulnerable to an unawareness of smoke, gas, Investigations (e.g. CT scan for sinus disease, nasal polyps)
dangerous chemicals and unhealthy food.
Treatment of anosmia2,4
Table 48.3 Causes of reduced sense of smell Explanation and reassurance

Education about smoke detectors, caution about chemicals including gas, excessive perfume,
Conductive defects food safety including milk and meat contamination
Head trauma
Consider dietary supplement (weak supportive evidence) with daily zinc sulphate, vitamin A
Nasal polyps and thiamine
Septal deviation
For chronic anosmia following an URTI: prescribe a nasal decongestant such as Spray-Tish
Rhinitis and sinusitis Menthol for 5–7 days
Rare (not to be missed)
Nasal tumour Rhinitis
Wegener granulomatosis Rhinitis is inflammation of the nose causing sneezing, nasal discharge or blockage for more than
Central/sensorineural defects an hour during the day. Rhinitis is subdivided into various types:
Ageing
 According to time span: crease indicates nasal allergy, especially in a child.

seasonal rhinitis: occurs only during a limited period, usually springtime
perennial rhinitis: present throughout the year
According to pathophysiology:
allergic rhinitis: an IgE-mediated atopic disorder
vasomotor rhinitis: due to parasympathetic overactivity
Both allergic and vasomotor rhinitis have a strong association with asthma.
The classification can be summarised as:
seasonal allergic rhinoconjunctivitis = hay fever
perennial rhinitis
allergic (usually due to house dust mites)
non-allergic = vasomotor: eosinophilic, non-eosinophilic
Note: Allergic rhinitis (hay fever) is presented in detail in CHAPTER 72
Clinical features
Nasal symptoms:
sneezing
nasal obstruction and congestion
Allergens
Pollens from trees (spring) and grass (in summer)
Moulds
House dust mites (perennial rhinitis)
Hair, fur, feathers (from cats, dogs, horses, birds)
Some foods (e.g. cow’s milk, eggs, peanuts, peanut butter)
Diagnosis
Allergic rhinitis—nasal allergy:
detection of allergen-specific IgE antibodies (not specific)
RAST test or skin testing for specific allergens (can get false negatives)
Vasomotor rhinitis—a diagnosis of exclusion.
.
Other causes of rhinitis
Chronic infection (viral, bacterial, fungal)
Rhinitis of pregnancy
Rhinitis medicamentosa—following overuse of OTC decongestant nasal drops or
oxymetazoline sprays

hypersecretion—watery rhinorrhoea, postnasal drip Drug-induced rhinitis:

reduced sense of smell Page 579 various antihypertensives

itching nose (usually allergic) aspirin

Throat symptoms: phenothiazines

dry and sore throat oral contraceptives

itching throat cocaine, marijuana

Irritated eyes (allergic) Chemical or environmental irritants (vasomotor rhinitis):

Abnormal nasal mucous membrane—pale, boggy, mucoid discharge. A transverse nasal smoke and other noxious fumes
 paints and sprays Trial antihistamine nasal spray

cosmetics Add in (or switch to, first or second line) intranasal corticosteroid spray

Factors aggravating rhinitis (vasomotor) While awaiting surgical options, pain may be relieved by oral prednisolone

Emotional upsets If the above therapies are ineffective, a mechanical saline sinus irrigation procedure to remove
stagnant mucus is beneficial.6
Fatigue
Refer:
Alcohol
for surgical drainage if there is no response to the above regimen
Chilly, damp weather
those with orbital or facial cellulitis (refer urgently)
Air-conditioning

Sudden changes in temperature and humidity

Nasal polyps
Nasal polyps are round, soft, pale, pedunculated outgrowths arising from the nasal or sinus
Rhinosinusitis mucosa. They are basically prolapsed, congested, oedematous mucosa, described by some as
‘bags of water’ (see FIG 48.1 ). They occur in patients with all types of rhinitis, but especially
in allergic rhinitis (see FIG. 48.2 ). Polyps usually arise from the middle meatus and turbinates.
Acute sinusitis
Page 580
Acute sinusitis is acute inflammation in the mucous membranes of the paranasal sinuses. About
5% of URTIs are complicated by an acute sinusitis,4 which is mainly viral initially, while
secondary bacterial infection can follow. Any factor that narrows the sinus openings into the
nasal cavity (the ostia) will predispose to acute sinusitis.

The two prime clinical presentations are:

1. an URTI persisting for longer than 10 days

2. an URTI that is unusually severe with pyrexia and a purulent nasal discharge

Refer to CHAPTER 41 for features of acute maxillary sinusitis. Note that antibiotics are usually
not helpful.

Chronic sinusitis
FIGURE 48.1 Nasal polyp in right nasal cavity in a patient with inflamed
Chronic sinusitis is the most common complication of acute sinusitis. In chronic sinusitis, the mucosa from allergic rhinitis
symptoms and signs of inflammation persist for more than 8–12 weeks and are more likely to be
associated with factors that impair drainage via the osteomeatal complex, including nasal polyps.

Treatment5
Intranasal irrigation with saline
 common situation is intermittent anterior bleeding from Kiesselbach plexus located in Little area,
seen in children and the young adult (90% of episodes), while posterior epistaxis (10%) is more
common in the older hypertensive patient. It has a strong association with higher URTI (rhinitis,
sinusitis), hot dry climates and trauma. Neoplasms should be kept in mind. Bleeding often occurs
at night due to vascular vasodilation. Causes of epistaxis are presented in the diagnostic strategy
model in TABLE 48.4 . The secret of good management is to have the right equipment, good
lighting and effective local anaesthesia.

Table 48.4 Epistaxis: diagnostic strategy model

Probability diagnosis
Idiopathic: spontaneous from Little area
FIGURE 48.2 Transverse cross-section of nose, demonstrating origin of nasal URTI: common cold, influenza, sinusitis
polyps Rhinitis
Symptoms include nasal obstruction, watery discharge, postnasal drip and loss of smell. Vestibulitis
Trauma (incl. nose picking, nose injury)
Note:
Drugs (e.g. anticoagulants, aspirin)
Nasal polyps may be associated with asthma and aspirin sensitivity.
Serious disorders not to be missed
Cystic fibrosis should be considered in any child with nasal polyps. Vascular:

A polyp that does not have the typical smooth, pale appearance may be malignant. hypertension and arteriosclerosis
Infection:
A unilateral ‘polyp’ may be a neoplasm.
systemic febrile illness (e.g. malaria)
If there is a purulent discharge, swab and give antibiotics. HIV/AIDS

Treatment Cancer/neoplasia:
tumours of nose/sinuses/nasopharynx
The initial treatment should be medical.7 A medical ‘polypectomy’ can be achieved with oral intracranial tumours
steroids, for example, prednisolone 50 mg daily for 7 days. Supplement this with a corticosteroid
spray (betamethasone, fluticasone, budesonide, mometasone) starting simultaneously and leukaemia
continuing for at least 3 months.8 Give antibiotics for any purulent nasal discharge. Other:
Simple polyps can be readily snared and removed, but referral to a specialist surgeon is advisable thrombocytopenia
for surgical intervention since the aim is to remove the polyp with the mucosa of the sinuses coagulopathy (e.g. haemophilia, liver disease)
(often ethmoidal cells) from which it arises. This complex procedure reduces the incidence of
recurrence. Pitfalls (often missed)
Exposure to toxic agents
Epistaxis 9
Vitamin deficiencies: C and K

This common emergency should, in some instances, be treated as a life-threatening problem. The Septal granulomas and perforations
 Foreign bodies (esp. in children) Use one of three methods: electrocautery, trichloracetic acid or silver nitrate stick (preferred).
Beware of silver nitrate stains. Apply petroleum jelly to cauterised area.
Cocaine abuse
Rarities:
hereditary haemorrhagic telangiectasia

Diagnostic tips
Recent onset of persistent bleeding in elderly points to carcinoma.

Severe epistaxis is often caused by liver disease coagulopathy.

Difficult-to-control posterior bleeding is a feature of the hypertensive elderly.

Ideal equipment
Head light, Thudicum nasal speculum, Tilley nasal packing forceps, suction cannula and tubing,
Co-Phenylcaine forte spray ± 5% cocaine solution.

Tamponade options (for difficult bleeding)

Merocel expandable or dental pack, Kaltostat, BIPP (bismuth iodoform paraffin paste) with
ribbon gauze, dental pack, Foley catheter (no. 12, 14 or 16) with a 30 mL balloon and self-
sealing rubber stopper, anterior/posterior balloon, Epistat catheter with or without Kaltostat. Or
instead, many retrieval services stock a (rather expensive) Rapid Rhino nasal device for posterior
or uncontrolled anterior bleeds.
FIGURE 48.3 Little area on the nasal septum where several blood vessels
anastomose. Bleeding is common here, especially in young people.
Persistent anterior bleed
Merocel (surgical sponge) nasal tampon or Kaltostat pack.

Page 581 Tranexamic acid can be effective, given orally or intravenously. Two RCTs have also
Treatment demonstrated the effectiveness of topical application, which is of even lower risk and gives more
immediate results.10 Pour an ampoule (if none avail, dissolve capsule contents) of tranexamic
First line is to clear clots—blow the nose and then apply 5–6 sprays of a decongestant nasal acid onto ribbon gauze and insert nasally.
spray, e.g. Drixine.
‘Trick of the trade’ for intermittent minor anterior epistaxis: Page 582
Simple tamponade:
topical antibiotic (e.g. Aureomycin ointment) bd or tds for 10 days
Pinch ‘soft’ part of nose below the nasal septum between thumb and finger for 5 or up to 20
minutes or (better option)

Apply ice packs to bridge of nose Nasalate nasal cream tds for 7–10 days

Another simple method is to insert a cotton wool ball soaked in lignocaine with adrenaline or or
other decongestant
Rectinol ointment or Vaseline
Simple cautery of Little area (see FIG. 48.3 ) (under local anaesthetic, e.g. Co-Phenylcaine forte
nasal spray ± 5% cocaine solution): Avoid digital trauma and nose blowing.
Severe posterior epistaxis
Use a Foley catheter or an Epistat catheter plus anterior pack or the Rapid Rhino nasal pack.
Nasal vestibulitis 11
Infection of the nasal vestibule can cause a tender, irritating, crusty problem. First-line simple
treatment is the daily application of sesame seed oil (e.g. Fess, Flo, Nozoil) or a thin smear of
petroleum gel (Vaseline). Low-grade infections and folliculitis, which are evident on inspection,
cause localised pain, crusts and bleeding, especially if picked from habit. Treatment is with
bacitracin or preferably mupirocin (intranasal) ointment topically for 5–7 days; apply with cotton
bud.
Furunculosis of the nasal vestibule is usually due to Staphylococcus aureus. It starts as a small
superficial abscess in the skin or the mucous membrane and may develop into a spreading
cellulitis of the tip of the nose. The affected area becomes tender, red and swollen. It is best
treated by avoiding touching it, hot soaks and systemic antibiotics such as dicloxacillin or as
determined by culture from swabs of the vestibule.
Tip: Staphylococcus aureus colonises the nose of 20–30% of the population.8 Carriers are prone
to transmit nosocomial infection and have an increased risk of serious infections in the presence
of serious medical disorders. Treatment includes strict hygiene and eradication with an agent
such as mupirocin ointment (match-head size) 2–3 times daily for 5–7 days (max. 10 days).6
Fissure: Painful fissures often develop at the mucocutaneous junction. They may become crusted
and chronic. Fissures can be treated by keeping the area moist with petroleum jelly (Vaseline) or
saline gel, using hot compresses and the use of an antibiotic or antiseptic ointment if necessary.
Offensive smell from nose
This may be caused by vestibulitis but ensure no foreign body is present.
Treatment
Take nasal swab for culture.
consider mupirocin 2% nasal ointment, instilled 2–3 times a day for 10 days
or
Kenacomb ointment, instil 2–3 times a day
Rhinophyma
This disfiguring swelling of the nose is due to hypertrophy of the nasal sebaceous glands. There
is no causal association with alcohol; the visible facial vasodilatory effects of acute intoxication
may perhaps have supported this belief. Rhinophyma is almost exclusive to men over the age of
40 years, often associated with rosacea.
Treatment
Good control of rosacea may reduce the risk (see CHAPTER 113 ).
If surgical correction is warranted, refer to a specialist.
Carbon dioxide laser therapy is the treatment of choice.
Shave excision is another effective therapy.
Nasal septal deviation
This causes blockage as a solitary symptom. Mild septal deviation tends to cause alternating
blockage while severe deviation causes persistent blockage on one side.
The septum can be divided into anterior and posterior segments. The anterior portion is
necessary to support the cartilaginous pyramid of the nose whereas the posterior portion has no
supporting role and can be removed without disturbing the support of the nose. The classic
submucous resection operation is therefore suitable for posterior septal deviations. Repair of
anterior septal deviations is more complex.
Nasal cosmetic surgery
Rhinoplasty is undertaken to improve the function of an obstructed nasal airway or for cosmetic
reasons. In counselling for rhinoplasty it is important to undertake careful planning with realistic
anticipated outcomes. The GP should provide non-judgmental support for the patient’s decision
on cosmetic surgery before referral to an expert in rhinoplasty. Each case has to be assessed
individually and the surgery tailored to the deformity. Surgical attention to the airway is
important, otherwise the nose may become partially obstructed and stuffy after cosmetic surgery
alone.
Page 583
Septal perforation
A hole in the nasal septum is commonly caused by chronic infection, including tuberculosis,
repeated trauma such as vigorous nose ‘picking’ or following nasal surgery. Rarely, it is
encountered in syphilis, Wegener granulomatosis (CHAPTER 21) or overzealous medical
cautery. It is a known occupational hazard, particularly among chrome workers, and is seen in
drug users who sniff cocaine. In about 5–10% of cases, perforation is a result of malignant
disease.4 The condition may be asymptomatic depending on the cause, but there is often an
irritating nasal crust and a whistling sound on nasal inspiration. It can be demonstrated by
looking in one nares while a light is shone in the opposite one. The cartilaginous part is usually
involved. The perforation can be closed using a silicone septal button.
If not due to a serious cause, treat with Vaseline or saline gel and topical antibiotics for any (see FIG. 48.4 ).
infection. Refer if malignancy is suspected, otherwise treat symptomatically.

Nasal fractures2,9
Fractures of the nose can occur in isolation or combined with fractures of the maxilla or
zygomatic arch. They may result in nasal bridge bruising, swelling, non-alignment and epistaxis.
Always check for a compound fracture or head injury and, if present, leave alone and refer. If the
patient is seen immediately (such as on a sports field) with a straightforward lateral
displacement, reduction may be attempted ‘on the spot’ with digital manipulation before
distortion from soft tissue swelling. This involves simply using the fingers to push laterally on
the outside of the nose towards the injured side.2

Tips:

X-rays are generally unhelpful unless excluding other facial skeletal injuries and for legal
reasons.

If a deformity is present, refer the patient within 7 days, ideally from days 3–5.
FIGURE 48.4 Inferior view of nasal cavity showing bilateral swelling of septal
Skin lacerations, i.e. compound fracture, usually require early specialist assessment. haematoma

The optimal time to reduce a fractured nose is about 10 days after injury. There is a window It results from haemorrhage between the two sheets of mucoperiosteum covering the septum. It
period of 2–3 weeks before the fracture unites. may be associated with a fracture of the nasal septum.

Closed reduction under local or general anaesthetic is the preferred treatment. Note: This is a most serious problem as it can develop into a septal abscess. The infection can
pass readily to the orbit or the cavernous sinus through thrombosing veins and may prove fatal,
Open reduction is more suitable for bilateral fractures with significant septal deviation, especially in children. Otherwise it may lead to necrosis of the nasal septal cartilage followed by
bilateral fractures with major dislocations or fractures of the cartilaginous pyramid. collapse and nasal deformity.

Refer: Treatment
septal haematoma Remove blood clot through an incision, under local anaesthetic.
uncontrolled epistaxis Prescribe systemic (oral) antibiotics (e.g. penicillin or erythromycin).
recurrent epistaxis Treat as a compound fracture if X-ray reveals a fracture.
concern about cosmetic alignment ENT specialist advice as necessary.
cribriform plate fracture Page 584

CSF rhinorrhoea Stuffy, running nose in adults

Haematoma of nasal septum
Septal haematoma following injury to the nose can cause total nasal obstruction. It is easily
diagnosed as a marked swelling on both sides of the septum when inspected through the nose
For simple post-URTI rhinitis, blow the nose hard into disposable paper tissue or a handkerchief
until clear, instil a nasal decongestant for 2–3 days (if desired) and also have steam inhalations
with Friar’s Balsam or menthol preparations.
Rhinorrhoea choanal atresia
barotrauma
This can be normal or abnormal. There is a ‘nasal cycle’ in which there is nasal congestion and Seven masquerades checklist
decongestion that alternates from side to side and leads to rhinorrhoea. Other causes of normal
discharge include vasomotor reactions to external environmental stimuli, such as cold wind and Drugs: topical OTC → rhinitis medicamentosa; narcotics
irritants, and postnasal drip (2 L of mucus pass down the back of the nose each day). The Hyperthyroidism
diagnostic model for rhinorrhoea is presented in TABLE 48.5 .

Table 48.5 Nasal drip (rhinorrhoea) diagnostic Senile rhinorrhoea

strategy model
This is a common, distressing problem in the elderly, caused by failure of the vasomotor control
of the mucosa. It may be associated with a deviated septum and dryness of the mucosa. There are
Probability diagnosis few physical signs apart from the nasal drip. The treatment is to keep the nasal passages
URTI (esp. common cold) lubricated with an oil-based preparation, e.g. insufflation with an oily mixture (a sesame oil-
based preparation, e.g. Nozoil, is suitable) or petroleum jelly. Topical decongestants cause
Rhinitis (acute infective, allergic, vasomotor) serious side effects in the elderly.
Vasomotor stimulation (e.g. cold wind, smoke, irritants)
Sinusitis → postnasal drip CSF rhinorrhoea
Senile rhinorrhoea Following head injury, clear dripping fluid (+ve for glucose or beta-2 transferrin, a more specific
Serious disorders not to be missed test) may indicate a fracture of the roof of the ethmoid. A useful test is the ‘halo’ or double-ring
test, where a bloodstained drop is placed on tissue paper and shows separation of blood and
Vascular:
straw-coloured CSF. Refer for assessment, although spontaneous healing can occur.
cluster headache
Infection: Neoplasia
chronic infective granulomas, e.g. TB
Malignant nasal disease, which is uncommon, may cause nasal discharge that may be clear at
Cancer/tumours: first, becoming thick and offensive. Malignancy should be suspected in the presence of blood.
malignancy (nasal fossa, sinus, nasopharynx) The growth may be in the nasal fossa, sinus or nasopharynx.

Other: Benign tumours include papilloma, fibroma, osteoma, juvenile fibroangioma of puberty and
CSF rhinorrhoea (post-head injury) nasal polyps. Fibroangiomas occur exclusively in males between the ages of 9 and 24. Patients
Wegener granulomatosis present with unilateral nasal obstruction and recurrent epistaxis.

Pitfalls (often missed) Malignant tumours include nasopharyngeal carcinoma, with the maxillary sinus being the most
common site. Squamous cell carcinoma is the most common, followed by adenocarcinoma
Nasal foreign body, e.g. in toddlers melanoma and lymphoma. Malignant or non-healing granuloma, sometimes called ‘midline
Trauma ± blood granuloma’, is a slowly progressing ulceration of the face starting in the region of the nose.4 It
Adenoid hypertrophy may represent a form of T cell malignant lymphoma, which responds to radiotherapy. The
differential diagnosis is Wegener granulomatosis (see CHAPTER 21 ). Diagnosis is by CT scan
Illicit drugs (e.g. cocaine, opioids, esp. heroin) and biopsy. Treatment of nasopharyngeal and sinonasal carcinoma depends on the site, size and
Inhaled irritant gases or vapour histology, but usually involves a combination of surgery and postoperative radiotherapy.
Rarities:
Nasal disorders in children

Nasal problems, especially nasal discharge (rhinorrhoea), are very common in children Page 585
but the pattern of presentation is usually different from that of adults. Sinusitis is uncommon in
children under the age of 10, and allergic nasal polyps are relatively rare. If a child presents with
polyps, consider the possibility of cystic fibrosis or neoplasia. Rhinitis, epistaxis and nasal
foreign bodies are common.
Abnormal causes
Adenoid hypertrophy causing postnasal space obstruction
Foreign body in nose—usually unilateral discharge
Allergic rhinitis
Unilateral choanal atresia
Sinusitis (possible but rare)
Tumour (also rare—consider fibroangioma)
Diagnosis may be enhanced by spraying with a vasoconstricting agent and getting the child to
blow the nose. A tumour, foreign body or polyp may become visible.
Choanal atresia
Acute bilateral nasal obstruction may occur in newborns with congenital bilateral choanal atresia.
This leads to anterior nasal discharge and immediate acute respiratory distress, temporarily
relieved by crying. Immediate recognition and relief are essential. A finger in the corner of the
mouth while finding an oral (Guedel) airway can be life-saving, as can passing a nasal probe
down one nostril and perforating the membrane.
Sinusitis
Although rare, sinusitis can represent a serious emergency. Red flags requiring consideration
include a sick child, pyrexia, rapid onset, unilateral and deteriorating airway obstruction.
Blocked nose and snoring
The above causes of nasal blockage may lead to snoring, mouth breathing, reduced sense of
smell, dribbling and possibly obstructive sleep apnoea.
Nasal trauma and fractures11
Areas of concern associated with nasal fractures, which are uncommon, are possible child abuse,
open fracture, septal haematoma or abscess and eye or facial changes. If a fracture is
undisplaced, the treatment is pain relief, ice compresses and rest. If displaced, refer for closed
reduction under general anaesthetic within 1–2 weeks (ideally at 10 days).11 If associated
epistaxis does not settle with pressure, temporary packing may be required.
Epistaxis
Epistaxis is usually intermittent anterior bleeding from Little area and may follow trauma
including nose picking. Bleeding often occurs at night due to vascular vasodilatation. At first, try
correction with simple measures (see earlier in chapter) such as pinching below the nasal septum
for 5 minutes, supplemented by cold packs. Vaseline applied in the nose at night tends to prevent
bleeding, while an antibiotic ointment twice daily for 7–10 days may help.
If problematic, refer for an ENT appointment.
Tip: Think of a bleeding disorder or a tumour, e.g. juvenile angiofibroma.
Snoring and obstructive sleep apnoea
Generally, these problems in children are almost always due to adenotonsillar hypertrophy and
most cases are relieved by surgery; CPAP is rarely necessary. Sleep studies are performed to
confirm clinical features and allay parental concerns. See CHAPTER 60 .
The snuffling infant
Snuffling in infants is usually caused by rhinitis due to an intercurrent viral infection. The
presence of yellow or green mucus should not usually be a cause for concern.
Treatment
Reassure the parents.
Paracetamol mixture or drops for significant discomfort.
Get the parents to perform nasal toilet with a salt solution (1 teaspoon of salt dissolved in
some boiled water); using a cotton bud, gently clear out nasal secretions every 2 waking hours.
Once the nose is clean, saline nose drops or spray (e.g. Narium nasal mist) can be instilled.
Stronger decongestant preparations are not advised unless the obstruction is causing a
significant feeding problem, when they can be used for up to 4–5 days.
Foreign bodies in the nose
The golden rule is ‘a child with unilateral nasal discharge has a foreign body (FB) until Page 586
proved otherwise’. Such foreign bodies usually consist of beads, pebbles, peas, pieces of rubber,
plastic and paper or other small objects handled by the child. A rhinolith may develop in time on
the foreign body. In adults, foreign bodies are often rhinoliths, which are sometimes calcium
deposits on pieces of gauze or other material that has been used to pack the nose.
Removal of foreign bodies
Removal of FBs from the nose in children is a relatively urgent procedure because of the risks of
aspiration. A disc/button battery such as a hearing aid battery in the nose is a medical emergency
requiring urgent removal under anaesthetic.11
The nose should be examined using a nasal speculum under good illumination. The tip of the
nose should be raised and pressed with the tip of a thumb. At first, spray a topical decongestant
into the nose and see if the child can blow it out after waiting 10 minutes. Do not attempt to
remove FBs from the nose by grasping with ‘ordinary forceps’.
Methods of removal
1. Spray with decongestant, wait 10 minutes, then ask the child to blow out the FB.
2. It is best to pass an instrument behind the FB and pull or lever it forward.
Examples of instruments are:
a Eustachian catheter
a probe to roll out the FB
a bent hairpin
a bent paperclip
3. Snaring the FB
This is the appropriate method for soft, irregular FBs such as paper, foam rubber and cotton
wool that are clearly visible. Examples of instruments are:
a foreign-body remover
crocodile forceps
fine nasal forceps
4. Glue on a stick
Apply SuperGlue to the plastic end of a swab stick. Within seconds, apply it to the FB (avoid
the mucosa), wait a minute and then gently extract the FB.
5. Rubber catheter suction technique
The only equipment required is a straight rubber catheter (large type) and perhaps a suction
pump. This method involves cutting the end of the catheter at right angles, smearing the rim of
the cut end with petroleum jelly and applying this end to the FB, then providing suction. Oral
suction may be applied for a recently placed or ‘clean’ object, but gentle pump suction, if
available, is preferred.
6. Irritation of the nose
Some practitioners sprinkle white pepper into the nose to induce sneezing. It risks inhalation.
7. The ‘kiss and blow’ technique
This mouth-to-mouth method is used for a cooperative child with a firm, round foreign body
such as a bead impacted in the anterior nares. It is best to supervise the child’s mother to
perform the technique, but the practitioner or practice nurse can perform it.
Method
Use a nasal decongestant spray.
After 20 minutes lay the child on an examination couch with a pillow under the head.
Obstruct the normal nostril with a finger from the side.
Place the mouth over the child’s mouth, blowing into it until a slight resistance is felt (this
indicates that the glottis is closed).
Then blow hard with a high-velocity puff to cause the FB to ‘pop out’.
To encourage cooperation with the technique, the child can be asked to give mother (or other) a
‘kiss’. More than one attempt may be needed, but it is usually very successful and avoids the
necessity for a general anaesthetic.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Hay fever
Nasal polyps
Nosebleed
Nose: stuffy, running nose
Sinusitis
References Page 588

1 Kalish L, Da Cruz M. Nasal obstruction. Medicine Today, March 2009; 10(3): 41–52.

2 Mendelsohn M, Ruhno J. The nose—form and function. Australian Doctor, 2 October

2004: 31. 49 Nausea and vomiting
3 Porter RS, Kaplan JL. The Merck Manual of Diagnoses and Therapy (19th edn). New
Jersey: Merck, Sharp & Dohme Corp., 2011: 466–8.

4 Burton M, ed. Hall and Coleman’s Diseases of the Ear, Nose and Throat (15th edn).
Edinburgh: Churchill Livingstone, 2000: 107–17. Nausea, retching and hypersalivation frequently precede the act of vomiting, which is a highly
integrated sequence of involuntary visceral and somatic motor events.
5 Rhinitis and rhinosinusitis [published 2020]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed February HARRISON’S PRINCIPLES OF INTERNAL MEDICINE, 1994
2021.
Vomiting or emesis is a rather dramatic event with a diverse number of causes. It is usually
6 Harvey RJ. Differentiating chronic sino-nasal complaints. Australian Doctor, 6 Page 587 preceded by nausea.
February 2009: 27–32.

7 Lund JL. Diagnosis and treatment of nasal polyps. BMJ, 1995; 311: 1411–4. Glossary of terms
8 Martinez-Devesa P, Patiar S. Oral steroids for nasal polyps (Cochrane Review). Cochrane
Haematemesis Vomiting of blood. It is presented in CHAPTER 44 .
Database Syst Rev, 2011; Issue 6: Art No. CD005232.
Nausea The unpleasant sickly sensation that may or may not herald the onset of
9 Barnes ML at al. Epistaxis: a contemporary evidence based approach. Otolaryngol Clin
vomiting.
North Am, 2012; 45(5): 1005–17.
Regurgitation The effortless passage of gastric contents into the mouth in the
10 Reuben A et al. Novel use of tranexamic acid to reduce the need for Nasal Packing in
absence of nausea and without diaphragmatic muscular contractions.
Epistaxis (NoPac) randomised controlled trial: research protocol. BMJ Open, 2019; 9:
e026882. Retching An involuntary act with all the movements of vomiting without the
expulsion of gastric contents because the cardiac orifice remains closed.
11 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty. Ltd, 2018: 426–7. Rumination The effortless regurgitation of recently ingested food into the mouth,
followed by rechewing and reswallowing or spitting out.1

Vomiting The forceful expulsion of gastric contents through a relaxed upper

oesophageal sphincter and out of the mouth.

The clinical approach

History
A careful history is essential with an emphasis on drug intake, possible psychogenic factors,
including self-induced emesis, weight loss, other GIT symptoms or symptoms suggestive of bulimia.
systemic disease.
Page 589

Examination Investigations
If fever is present possible sources of infection (e.g. middle ear, meninges and urinary tract) If necessary, these should consider the underlying cause and also biochemical abnormalities
should be checked. resulting from fluid and electrolyte loss.

A careful abdominal examination is appropriate in most instances and this includes urinalysis. The following need to be considered:
Look particularly for scars indicating previous surgery. Look for a succussion splash—this
indicates pyloric obstruction. pregnancy test (all females of child-bearing age)

microscopy and culture of stools

Key facts and checkpoints
radiology of GIT
Nausea and vomiting have a wide range of potential causes emanating from every
endoscopy
body system.
oesophageal motility studies
The common cause of acute nausea and vomiting in most age groups is
gastroenteritis. neurological investigation for suspected intracranial pressure (e.g. CT scan, MRI)
The most common causes of vomiting in children are infections—viral (especially) drug toxicity studies
and bacterial—including otitis media and urinary infection.
biochemistry
Drug and alcohol ingestion is a common cause of nausea and vomiting; thus, a
drug history is vital in assessment. cortisol/short synacthen test
Vomiting is commonly associated with migraine and may be the only symptom of a
variety of migraines. Children with cyclical vomiting syndrome may have a genetic Red flags for vomiting
association with migraine.

The nature of the vomitus provides a clue: Marked pallor

feculent = intestinal obstruction Signs of hypovolaemia

blood = bleeding from oesophagus, stomach or duodenum (mostly) Peritoneal signs

coffee grounds = bleeding from stomach or duodenum Headache, stiff neck, confusion

Distended tympanic abdomen

A neurological examination needs to be considered, including ophthalmoscopy. Consider raised
intracranial pressure.

No examination is complete without assessment of the patient’s physical fitness, including the Diagnostic guidelines
level of hydration, especially in infants and the very old. In these age groups the history may be
difficult to obtain and the consequences of fluid loss are more complicated. Always be mindful Surgical GIT causes are unlikely in the absence of abdominal pain.
of the possibility of pregnancy in the female patient. Look for acid dental erosion as a marker of
 Vomiting without bile-stained vomitus = pyloric obstruction. Poisoning: food, chemicals, alcohol
Gut motility disorders: achalasia
Vomiting of bile = obstruction below duodenal ampulla.
Paralytic ileus
Vomiting of ingested food = oesophageal obstruction. Acute glaucoma
Substance abuse, e.g. opioids, marijuana
Vomiting without nausea and possibly projectile = ↑ intracranial pressure.
Radiation therapy
A summary of the diagnostic strategy model is presented in TABLE 49.1 . Hypercalcaemia
Chronic idiopathic nausea and vomiting
Functional obstruction: diabetic gastroparesis, idiopathic gastroparesis
Table 49.1 Vomiting in adults: diagnostic strategy model
Seven masquerades checklist
Probability diagnosis Depression (possible)
Acute gastroenteritis/gastritis Diabetes (ketoacidosis)
Drugs and toxins/alcohol intoxication Drugs (various, e.g. cytotoxics, digoxin)
Motion sickness Anaemia
Pregnancy Thyroid and other endocrine disorders (Addison disease)
Migraine/cyclical vomiting UTI
GORD Is the patient trying to tell me something?
Serious disorders not to be missed Possibly: extreme stress (e.g. panic attacks, anxiety).
Bowel obstruction: Consider bulimia (self-induced vomiting) and functional (psychogenic).
severe constipation
malignancy (e.g. oesophagus, stomach)
Severe infection: Vomiting in infancy
botulinum poisoning
septicaemia
meningitis/encephalitis
Common causes in infants
infective endocarditis Feeding problems
others (e.g. acute viral hepatitis)
Malignancy Food intolerance
Intracranial disorders: malignancy, cerebellar haemorrhage Physiological, e.g. posseting, simple reflux
Acute appendicitis
Acute pancreatitis/biliary colic Gastro-oesophageal reflux
Acute myocardial infarction (e.g. painless) Gastroenteritis
Pitfalls (mainly adults)
Viral respiratory infections
Pregnancy (early)
Organ failure: liver, kidney (uraemia), heart, respiratory Page 590

Labyrinthine disorders: Ménière syndrome, labyrinthitis Is the vomiting bile-stained?

 Green vomiting = urgent surgical referral for possible intestinal malrotation with volvulus (6 Diagnosis: abdominal X-ray/upper GIT series (double bubble sign).
hours’ leeway before gangrene of bowel).2 Other causes: meconium ileus, small
bowel/duodenal atresia. Treated with surgical repair.

Non bile-stained vomitus (curdled milk): consider pyloric stenosis, GORD, feeding problems, Congenital hypertrophic pyloric stenosis
concealed infection (e.g. UTI, meningitis). Both pyloric stenosis and GORD cause projectile
vomiting. Usually sudden onset 3rd–6th week

Projectile vomitus
Important warning signs in neonates
Failure to thrive
Excessive drooling of frothy secretions from mouth
Male:female = 5:1
Bile-stained vomitus—always abnormal
Gastric peristalsis during test feeding (L → R):
Delayed passage of meconium (beyond 24 hours)
feel for pyloric tumour either during test feeding or immediately after vomiting (deep in
Inguinal hernias right epigastrium)—see FIGURE 49.1 ; once felt, further investigation is not necessary
Refer to surgical emergencies in children (CHAPTER 89 ). Biochemistry:

Specific conditions metabolic alkalosis: sodium usually <130 mmol/L, chloride <100 mmol/L

Special investigations (if necessary):

Posseting
barium meal (string sign)—concern about aspiration
The effortless regurgitation of small quantities of undigested milk (breast or formula) after
feeding is common in the first 1–4 months, and can continue up to the age of 18 months. In an abdominal ultrasound
otherwise healthy and thriving child with normal growth parameters, reassurance is appropriate.
Treatment:
Oesophageal atresia
correct fluid and electrolyte deficiency (hypochloraemic alkalosis) before surgery
Vomiting occurs with the first feeding.
appropriate fluid is N2 (half normal) saline with 5% dextrose
There is excessive drooling of frothy secretions from the mouth.
surgical management (longitudinal pyloromyotomy)
Pass a French gauge 10 catheter through the mouth to aid diagnosis.

Duodenal atresia
Regurgitated feedings

Bile-stained vomitus

Abdominal distension

Jaundice

Often associated with Down syndrome and cystic fibrosis.

 Strangulated inguinal hernia

Other surgical emergencies

Raised intracranial pressure, e.g. head injury

Serious infection, e.g. pneumonia, meningitis, sepsis

Diabetes/ketoacidosis

Haemolytic uraemic syndrome

Eating disorders: binging/purging

Gastroparesis (adults)3
FIGURE 49.1 Signs of pyloric stenosis Gastroparesis (gastropathy) or severely delayed gastric emptying is a moderately common
condition which is a cause of nausea and vomiting.
Acute gastroenteritis
Causes include:
See CHAPTER 34 .
diabetic gastroparesis (especially during periods of hyperglycaemia)
Intussusception
postsurgical gastroparesis, e.g. vagotomy (complete or partial), fundoplication
See CHAPTER 24 .
trauma

Vomiting in the older child idiopathic (de novo)

Common causes Less common causes include:

Acute gastroenteritis connective tissue disorders (e.g. scleroderma)

Acute viral infections vasculitides

Other common infections, e.g. otitis media myopathic disorders (e.g. muscular dystrophy)

Travel/motion sickness thyroid dysfunction

Migraine/cyclical vomiting hypokalaemia

Drugs and toxins, e.g. snake bite pancreatitis

Page 591 Symptoms

Not to be missed
Upper abdominal discomfort/bloating
Acute appendicitis/peritonitis
Early satiety
 Nausea Gastric pacing with internally implanted neurostimulators6

Postprandial vomiting (1–3 hours after meals)

Functional nausea and vomiting7,8
Abdominal pain
The Rome III classification of functional nausea and vomiting includes three disorders:9
Diagnosis
cyclical vomiting syndrome
Endoscopy → significant gastric residue
chronic idiopathic nausea
Barium swallow with follow through
functional vomiting
Nuclear medicine gastric emptying test (gastric retention of 60% after 2 hours is abnormal)

Special problems
Cyclical vomiting syndrome7
Features:
Malnutrition
severe, unexplained vomiting or nausea occurring at varying intervals in a healthy person
Dehydration
at least 3 or more limited episodes in previous year
Management
lasts hours to days
Advise patients to eat small, frequent meals, with careful chewing of food.
most common in children (mean age 5 years)
Avoid large pieces of bread, especially doughy bread (encourage toasting).
± severe abdominal pain, photophobia, headache
Avoid fat, especially French fries, raw fruit and vegetables.
regarded as a migraine variant (possible family history of migraine headache)
Refer those with diabetes to a dietitian for advice.
usually remits in adulthood—may persist
Medications4,5
treated with antimigraine therapy
domperidone 10–20 mg (o) tds, 15–30 minutes before meals
Chronic idiopathic nausea and vomiting4
or
This term is applicable to people who experience chronic nausea with or without vomiting
metoclopramide 5–10 mg (o) tds, 30 minutes before meals without an identifiable cause or precipitant. Gastric emptying is normal but cannot complete a
meal. Nausea at least several times a week and, for vomiting, one or more episodes a week.
or
Note: Reflux disease and marijuana withdrawal can cause chronic nausea. Page 592
erythromycin (has prokinetic properties) 125 mg (o) tds, 15 minutes before meals (rapidly
develops tolerance) Dietary modification with CBT is recommended. Anti-emetic or antidepressant medication can
be considered.
Consider cisapride 10 mg (o) tds before meals (with caution).

Other measures Complications of vomiting

Injection of botulinum toxin into the pylorus These include dehydration, metabolic alkalosis, hypokalaemia, aspiration, mucosal tear of
gastro-oesophageal junction, rupture of the oesophagus (Boerhaave syndrome). Antidepressants (e.g. serotonin reuptake inhibitors)
Antidiabetic agents (e.g. metformin, GLP-1 analogues, acarbose)
Symptomatic relief of vomiting Antihypertensives (e.g. CCBs, beta blockers)

The first-line management is to ensure that any fluid and electrolyte imbalance is corrected and Codeine
that any underlying cause is identified and treated. Various anti-emetics can give symptomatic Colchicine
relief.
Corticosteroids
Note: Avoid the use of centrally acting dopamine antagonist drugs (DADS, e.g. metoclopramide Cytotoxic agents and immunosuppressants
and prochlorperazine) in children because of risk of extrapyramidal side effects (EPSE), usually
Digoxin
acute dystonic reactions. Elderly also at risk. EPSE rare with domperidone because it does not
cross the blood–brain barrier. Other DADS include haloperidol and droperidol (limited use). Iron preparations
Levodopa, other antiparkinsonism drugs (e.g. bromocriptine)
Serotonin 5-HT3 antagonists Nicotine and nicotine gum

These include ondansetron, granisetron, dolasetron, palonosetron and tropisetron and are NSAIDs (e.g. indomethacin, COX-2 inhibitors)
effective at preventing chemotherapy- and radiotherapy-induced emesis when initiated prior to Opioids (e.g. morphine, codeine)
treatment. Dexamethasone enhances the effect of 5-HT3 agents. Ondansetron can be used in
Oral contraceptives
children with gastroenteritis, preferably in wafer format.
Salicylates
Drug-induced nausea and vomiting4 Tamoxifen
Theophylline
metoclopramide 10 mg (o) or IM 8 hourly prn

For cytotoxic drugs (e.g. cisplatin) and radiotherapy:

metoclopramide 10 mg (o) or IM 1–2 hours prior to therapy then 8 hourly (if mild)
Motion sickness
Refer to CHAPTER 129 .
For severe cases:
promethazine theoclate 25 mg (o) 60 minutes prior to travel
ondansetron 8 mg (o) or IV prior to therapy then two doses 6 hourly
or
plus
dimenhydrinate 50 mg (o) 60 minutes prior to travel
dexamethasone 8 mg IV 30 minutes prior to therapy, then two doses 6 hourly
or
Note: Restrict ondansetron to 8 mg daily for those with hepatic dysfunction.
hyoscine 300–600 mcg (o) 30 minutes prior to travel
A list of some drugs that can cause nausea and vomiting is presented in TABLE 49.2 .
or
Table 49.2 Some drugs that can cause nausea and vomiting hyoscine 1.5 mg dermal disc: applied to dry hairless skin behind the ear 5–6 hours before
travel (effective for 72 hours)4
Alcohol (including binge drinking)
For treatment: repeat oral presentations 4–6 hourly during trip (max. 4 doses in 24 hours).
Antibiotics (various) esp. erythromycin
Vestibular disturbances4 prochlorperazine 12.5 mg IM, 8 hourly prn

The phenothiazine derivatives are the most effective, while the dopamine D2-receptor Chemotherapy and radiotherapy
antagonists are relatively ineffective. Refer to CHAPTER 35 .
ondansetron 4 mg (o or SL) bd
prochlorperazine 5–10 mg (o) or 10 mg rectally, SC or IM 4 times daily prn
or
or
granisetron 2 mg (o) or IV
promethazine theoclate 25 mg (o) or IM 4 hourly prn (max. 100–150 mg per 24 Page 593
hours) plus

Note: Beware of tardive dyskinesia with prolonged use. dexamethasone 4 mg (o) daily

Gastroenteritis Practice tips

For severe cases in adults:
Consider the possibility of anorexia nervosa and bulimia in adolescent females
metoclopramide 10 mg (o) or IM 8 hourly prn with a history of vomiting immediately after meals, especially after binge eating.

If weight loss accompanies nausea and vomiting, consider GIT malignancy and
Pregnancy obstruction as well as the above psychogenic conditions.
pyridoxine hydrochloride 25 mg (o) tds Early-morning nausea and vomiting can be caused typically by alcohol,
pregnancy, kidney failure and raised intracranial pressure.
plus
Intracranial space-occupying lesions can cause vomiting without associated
doxylamine 25 mg (o) nocte anorexia or nausea.
if still ineffective add Gastroparesis commonly occurs in longstanding diabetes, following surgery or
may be idiopathic. Intense nausea and anorexia are features.
metoclopramide 10 mg (o) tds or IM (if oral intolerance)
Anti-emetic drug therapy should not be used in infants and children with
if response still unsatisfactory
gastroenteritis.
ondansetron tablet or wafer 4–8 mg (o) bd to tds
Anti-emetic treatment (see TABLE 49.3 ) must be tailored to the specific cause of
the problem.
Postoperative vomiting4
Cannabinoids such as tetrahydrocannabinol, long advocated for cancer-
granisetron 1 mg IV (adult) pre-anaesthetic (to prevent postoperative N & V) and/or 1 mg associated emesis, appear to be effective in selected patients but are associated
postoperative with central nervous system side effects in most patients.10
or The major complications of severe vomiting include trauma of the distal
oesophagus, such as a Mallory–Weiss tear, and severe fluid and electrolyte
metoclopramide 10 mg IM or IV (slowly), 8 hourly prn disturbances.
or
 Table 49.3 Anti-emetic medications in common use York: McGraw-Hill Education, 2017: 583.

Anti-emetic Receptor antagonist Route

Promethazine H1; D2 O, IM, IV
Metoclopramide D2 + 5-HT3 O, IV, IM
Prochlorperazine D2 (central) O, IM, PR
Domperidone D2 (peripheral) O
Droperidol D2 (central) IV
Haloperidol D2 (central) O, IM
Ondansetron 5-HT3 O, IV (slow)
Granisetron 5-HT3 O, IV (slow)

Important side effects: dystonia, dyskinesia, drowsiness, anti-cholinergic, hyperprolactinaemia

5-HT3 = 5 hydroxytryptamine type 3; D2 = dopamine D2

References
1 Duggan A, Al-Sohaily S. Nausea: how to treat. Australian Doctor, 23 March 2007: 25–32.

2 Thompson K, Tey D, Marks M. Paediatric Handbook (8th edn). Melbourne: Wiley-

Blackwell, 2009: 537–8.

3 Hebbard G. Gastroparesis. Diabetes Management Journal, 2005; 10: 6–7.

4 Nausea and vomiting [published 2016]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed February 2021.

5 Talley NJ. Diabetes gastropathy and prokinetics. Am J Gastroenterol, 2003; 98: 264.

6 Abell T et al. Gastric electrical stimulation for medically refractory gastroparesis.

Gastroenterology, 2003: 125–421.

7 Lindley KJ, Andrews PL. Pathogenesis and treatment of cyclical vomiting. J Pediatr
Gastroenterol Nutr, 2005; 41 (Suppl. 1): 38–40.

8 Talley NJ. Functional nausea and vomiting. Aust Fam Physician, 2007; 36(9): 694–7.

9 Drossman DA et al. Rome III: The Functional Gastrointestinal Disorders (3rd edn).
McLean, Virginia: Degnon Associates, 2006.

10 Papadakis MA, McPhee S. Current Medical Diagnosis and Treatment (56th edn). New
 Page 594

50 Neck lumps

There are approximately 800 lymph nodes in the body; no fewer than 300 of them lie in the neck
and inflammation of these is exceedingly common.

MCNEIL LOVE, CO-EDITOR OF BAILEY & LOVE’S SHORT PRACTICE OF SURGERY, 1965

In the management of lumps in the neck it is important to distinguish between the various
midline and lateral causes, especially cervical lymphadenopathy, which may be caused by occult
malignancy, such as in the aerodigestive tract. With increasing ageing in the population the
number of people presenting with a malignant neck lump is also increasing. The neck is divided
into anterior and posterior triangles by the sternomastoid muscle and the anatomical areas are
helpful in identifying the origin of the primary lesion (see FIG. 50.1 ).

FIGURE 50.1 Lymph glands (site of the nodes) of the neck including common
sources of adenopathy (excluding lymphomas)

Key facts and checkpoints

Most neck lumps are reactive lymph nodes—to concurrent infection.

Lymph nodes are normally palpable in children between 3 and 8 years of age; soft,
mobile nodes up to 1 cm in diameter are commonly felt in the anterior and posterior
triangle. A node >2 cm is considered to be enlarged. Some cervical glands are very
prominent, especially tonsillar nodes.

These prominent nodes often enlarge during intercurrent viral infection.

Causes of neck swellings are lymph nodes (85%), goitres (8%), others (7%).1

Solitary nodules in the thyroid move on swallowing.

Consider the possibility of tuberculosis, especially with exposure in endemic areas

and in immunocompromised people.
 A knowledge of the areas drained by lymph nodes is important (see FIG. 50.1 ). Infection:
Examination must extend beyond the neck for lymphadenopathy. ‘collar stud’ abscess (atypical TB)
tuberculosis of cervical nodes (scrofula)
To examine cervical nodes, slightly rotate head and palpate with palmar aspect of HIV/AIDS of nodes
fingers.
actinomycosis
Palpate submental area with head slightly flexed. Cancer/tumour
Biopsy of a complete lymph node is necessary to establish diagnosis for unknown lymphoma (e.g. Hodgkin)
or suspicious causes but do not consider it as the first step in diagnosis.2 leukaemia
thyroid nodule (adenoma, cancer, colloid cyst)
Other investigations are chest X-ray and FBE. Bone marrow biopsy or fine-needle
aspiration of thyroid nodule or other masses may be considered. Fine-needle metastatic nodes—mainly regional (head and neck); or unknown primary
aspiration biopsy (FNAB), which is a relatively simple procedure, is the single most salivary gland tumours
helpful investigation for diagnosing an unknown cause.3 If cytology reveals Pitfalls (often missed)
malignant squamous cells, the primary lesion may lie in the skin, lung, larynx,
pharynx, ear or oesophagus. Parotitis; other salivary gland disorders
Thyroglossal cyst
Lymphatic malformation (children)
A diagnostic approach Cervical rib
Rarities:
A summary of the diagnostic strategy model is presented in TABLE 50.1 .
sarcoidosis
cystic hygroma
Table 50.1 Neck lumps: diagnostic strategy model branchial cyst (child)
laryngocele
Probability diagnosis torticollis
Lymphadenitis (reaction to local infection)
acute: viral or bacterial
The key components of the history, examination and investigations follow.
chronic: MAIS (atypical tuberculosis), viral (e.g. EBM, rubella)
Prominent normal lymph nodes History
Goitre/thyroid cyst
This depends on the age of the patient but should include in all ages a history of upper
Sebaceous cyst respiratory infection, lower respiratory infection, possible Epstein–Barr, HIV, cytomegalovirus
Dermoid cyst and tuberculosis infection. Consider red flags such as weight loss, dysphagia, history of cancer
and increasing size of the lump. Note any response to antibiotics given for a throat or upper
Lipoma
airways infection.
Sternomastoid tumour (neonates)
Serious disorders not to be missed Examination
Vascular:
Careful palpation of lymph node areas and matching the site of any lymphadenopathy with a
carotid body tumour or aneurysm ‘map’ of areas drained by the nodes
 Examine the lump according to the classic rules of look, feel, move, measure, auscultate and Tender mass
transilluminate
Purple discolouration (collar-stud abscess)
Palpate the midline anterior area for thyroid lumps and the submental area for submandibular
swellings Single, gradually enlarging node

Note the consistency of the lump: soft, firm, rubbery or hard Fixed to skin without punctum

Page 595 Associated dysphagia

Investigations Hard midline thyroid lump

FBE Patient at risk of malignancy and HIV

ESR/CRP Exposure to tuberculosis

CXR

TFTs (of thyroid swelling) The 20:40 and 80:20 rules3,4

Fine-needle aspiration biopsy of thyroid nodules The age of the patient is a helpful guide, as causes of neck lumps can be roughly categorised
by the ‘20:40 rule’:
Lymph node biopsy; consider culture for TB
0–20 years: congenital, inflammatory, lymphoma, tuberculosis
Thyroid and primary tumours: imaging techniques (if necessary to assist diagnosis) include:
20–40 years: inflammatory, salivary, thyroid, papillary thyroid cancer, lymphoma
ultrasound
>40 years: lymphoma, metastases, i.e. neck lumps are malignant until proven otherwise
axial CT scan (esp. in fat necks)
Most persisting neck lumps (80%) are benign in children while the reverse applies to adults.
MRI scan (distinguishes a malignant swelling from scar tissue or oedema)
Imaging techniques that may assist diagnosis include axial CT scan (especially in fat necks),
tomogram of larynx (malignancy) MRI scan (distinguishes a malignant swelling from scar tissue or oedema), tomogram of
larynx (laryngocele or malignancy), barium swallow (pharyngeal pouch), sialogram and
barium swallow (pharyngeal pouch)
carotid angiogram.5
sialogram
A basic suggested approach for the patient presenting with a neck lump is summarised in
carotid angiogram FIGURE 50.2 .

Red flag pointers for neck lumps

>40 years, esp. >70 years

Nodes >2.5 cm

Nodes >3–4 cm ?malignancy

 soft: sarcoidosis or infection

tender and multiple: infection

Causes of cervical lymph node enlargement (lateral

cervical swelling)
Acute cervical lymphadenitis
Acute viral lymphadenitis

Acute bacterial lymphadenitis—coccal infection

Page 597
Chronic lymph node infection
MAIS lymphadenitis (atypical tuberculosis)
FIGURE 50.2 A basic approach for patients presenting with a neck lump4
Tuberculosis
Cervical lymphadenopathy
Viral infection, e.g. EBM (see FIG. 50.3 ), rubella, cytomegalovirus, HIV
There are many causes, varying from local infections to lymphoproliferative disorders.
Toxoplasma gondii infection
Most malignant nodes in the supraclavicular area have their primary tumour below the
clavicle. Cat-scratch disease—Bartonella henselae infection

Eighty-five per cent of malignant nodes in the anterior triangle have their primary Page 596
tumour in the head and neck.2

Always search for:

other nodes at distant sites

possible primary source of infections or neoplasia

hepatosplenomegaly

Hodgkin lymphoma usually presents with rubbery, painless nodes in the neck.
FIGURE 50.3 Cervical lymphadenopathy associated with Epstein–Barr
Consistency of enlarged nodes mononucleosis

Rules of thumb are:5,6 Neoplastic lymphadenopathy

hard: secondary carcinoma Lymphomas, esp. Hodgkin lymphoma

rubbery: lymphoma Leukaemia

 Secondary to unknown primary smooth and pulsatile

Metastatic can be moved laterally but not vertically

Check mouth, pharynx, sinuses, larynx, scalp, oesophagus, stomach, breast, lungs, thyroid and usually 40–60 years
skin. A working rule is upper neck—from skin to upper aerodigestive tract; lower neck—from
below clavicles (e.g. lung, stomach, breast, colon). requires excision (with care)

Examples: Carotid artery-tortuous or aneurysm

Parotid tumour
occipital or pre-auricular—check scalp

submental—check mouth, tongue, teeth Lateral thyroid tumours

submandibular—check floor of mouth Posterior triangle

left supraclavicular (under sternomastoid)—consider stomach (Troisier sign) Developmental remnants:

deep anterior cervical—consider larynx, thyroid, oesophagus, lungs cystic hygroma

branchial sinuses and cysts

Neck lumps not due to lymph node swelling7
Pancoast tumour (from apex lung)
Types and causes Cervical rib

Widespread Submandibular swellings

Sebaceous cysts Submandibular salivary gland

Lipomas Cervicofacial actinomycosis (lumpy jaw syndrome):

Midline chronic granulomatosis infection due to Gram-positive Actinomyces israelii

Thyroid nodule (moves upon swallowing) forms a multilocular abscess (pus has ‘sulphur granules’), difficult to culture

Thyroglossal cysts (moves upwards on tongue protrusion) infection follows dental extraction or poor dental hygiene, esp. severe caries

Dermoid cyst (beneath chin) treat with high-dose penicillin G, 4 months

Anterior triangle Sternomastoid tumour

Branchial cyst (in upper part): Refer CHAPTER 85 .

usually adulthood (20–25 years) Pharyngeal pouch

Carotid body tumour: A soft, squelchy, indefinite mass

opposite thyroid cartilage

 Base of left neck Child usually 2–3 years of age

History of difficulty in swallowing Caused by Mycobacterium avium-intracellulare-scrofulaceum (MAIS) infection

Thyroid nodule Produces chronic cervical lymphadenitis and collar stud abscesses

The most likely cause of a solitary thyroid nodule is the dominant nodule in a multinodular A relatively common infection of cervical nodes, yet often unrecognised
goitre.
Painless swelling due to development of a cold abscess in healthy child
Other causes include a true solitary nodule—adenoma, follicular carcinoma or solitary carcinoma
Nodes enlarge over 4–6 weeks prior to erupting into a ‘cold’ abscess and the overlying skin
—and a colloid cyst. Malignancy must be excluded.
has a purplish discolouration, which is an indication for surgical treatment
Page 598
Common sites are submandibular, tonsillar and pre-auricular nodes
Investigations
Invariably unilateral, confined to one lymph node group
Ultrasound
No pulmonary involvement
FNAB (may resolve a cystic lesion)
Unresponsive to antimicrobials: treatment is by surgical excision of abscess and underlying
TFTs lymph nodes

Neck lumps in children Acute bacterial lymphadenitis

Eighty per cent of persisting neck lumps are benign while 20% are malignant. Benign lumps Usually coccal infections—Staphylococcus, Streptococcus
usually occur in the anterior triangle, while malignant lumps are more likely in the posterior
triangle. The common midline lump in children is the thyroglossal cyst.3 Consider sternomastoid Can progress to abscess formation (fluctuant): requires drainage
tumour (fibrosis) in infants (see CHAPTER 85 ).
When to refer
Lymphadenopathy
A persisting lump, depending on its location and size
Most enlarged lymph nodes are either ‘normal’ or local infections (mainly viral), especially if
<2 cm diameter, and not hard or fixed. A lymph node or group of nodes that are abnormally enlarged and fail to respond to antibiotics

Inflammatory nodes may be caused by infection in the tonsils, the teeth or other oral or
nasopharyngeal cavities.
They are of concern if supraclavicular node enlargement and fever <1 week.
Suspicious nodes are >2.5 cm, with firmer consistency than normal and less mobility
(investigate especially with biopsy).
Consider bacterial infection with abscess formation in infants and children with large (2–4 cm)
tender masses.
References
1 Fry J, Berry H. Surgical Problems in Clinical Practice. London: Edward Arnold, 1987: 38.
2 Coman WB. Neck lumps in adults. In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 340–1.
3 Cole IE, Turner J. Neck lumps: clues to the diagnosis and management. Modern Medicine
Australia, 1997; April: 37–55.

MAIS lymphadenitis4,8 4 Grace PA, Borley NR. Surgery at a Glance (3rd edn). Oxford: Blackwell, 2006: 10–11.
5 Hughes C, O’Brien C. Neck lumps: how to treat. Australian Doctor, 5 August 2005: 31–8. Page 599

6 Larkins R, Smallwood R. Clinical Skills. Melbourne: Melbourne University Press, 1993:

133–4.

7 Hobbs C, Bova R. Neck lumps: a guide to assessment and management. Medicine Today,
2010; 11(4): 26–34. 51 Neck pain
8 Gwee A, Rimer R, Marks M. Paediatric Handbook (9th edn). Melbourne: Wiley-
Blackwell, 2015: 291.

We have all heard of the courtiers who mimicked the wry neck of Alexander the Great.

WILLIAM HEBERDEN (1710–1801)

Neck pain is a very common symptom in both sexes at all ages and although most pain is
experienced in the posterior aspect of the neck, anterior neck pain can occur from causes that
overlap between front and back. The main cause of neck pain is a disorder of the cervical spine,
which usually manifests as neck pain but can refer pain to the head, shoulders and chest. Such
pain usually originates from the facet (apophyseal) joints but can arise from other
musculoskeletal structures, such as the intervertebral discs and the muscles or ligaments (see
FIG. 51.1 ). The other major symptom is limited movement or stiffness.

FIGURE 51.1 Transverse section illustrating the functional unit and nervous
network of the cervical spine
General causes of neck pain are presented in TABLE 51.1 . Calcium pyrophosphate crystal arthritis
Neoplasia
Table 51.1 Causes of neck pain (a pathological classification) Benign
Malignant
Musculoskeletal/structural Fibromyalgia syndrome
Joint dysfunction: Psychogenic
apophyseal
Referred visceral
intervertebral disc
Heart:
Muscular/ligamentous strains or sprains
IHD
Trauma:
pericarditis
‘whiplash’
Oesophagus
fracture
Lung cancer
other disorders
Acute pancreatitis
Inflammation
Referred cranial
Osteoarthritis*
Haemorrhage (e.g. subarachnoid)
Rheumatoid arthritis
Tumour
Spondyloarthropathies (e.g. ankylosing spondylitis, psoriasis, reactive arthritis)
Abscess
Polymyalgia rheumatica
Thyroiditis
*Osteoarthritis, or spondylosis, is inflammatory and degenerative.

Infective
Page 600
Spinal:
osteomyelitis Key facts and checkpoints
tuberculosis
herpes zoster According to an Australian study, about 18% of people wake with some degree of
Extraspinal: neck pain and 4% experience neck pain or stiffness for all of the day.1
epidural abscess
cervical adenitis The commonest cause of neck pain is idiopathic dysfunction of the facet joints, also
called ‘non-specific’, without a history of injury, with a prevalence peak at 45 years.
poliomyelitis
tetanus Disorders of the intervertebral discs are common, especially in the lower cervical
Extracervical: spine, and may cause unilateral pain, paraesthesia or anaesthesia in the arm.
meningitis
In a UK study, radiological cervical disc degeneration was present in 40% of males
febrile states (e.g. meningism, malaria) and 28% of females between 55 and 64 years.2
Degenerative
Strains, sprains and fractures of the facet joints, especially after a ‘whiplash’ injury,
Spondylosis* are difficult to detect and are often overlooked as a cause of persistent neck pain.
Metabolic
Cervical spondylosis is a disorder of ageing: radiological signs occur in 50% of
Paget disease
people over the age of 50 and in 75% over the age of 65 years.3
 In cervical spondylosis, osteophytic projections may produce nerve root and spinal Serious disorders not to be missed
cord compression, resulting in radiculopathy and myelopathy respectively. Cardiovascular:
angina
Radiculopathy can be caused by a soft disc protrusion (usually unilateral), a hard,
calcified lump and osteophytes (may be bilateral). subarachnoid haemorrhage
arterial dissection/leaking aortic aneurysm
Cervical disorders are aggravated by vibration (e.g. riding in a motor vehicle). Neoplasia:
Always determine the C2, C6 and C7 levels by finding the relevant spinous primary metastasis
processes (easily palpable landmarks) prior to palpation. Pancoast tumour
Severe infections:
Palpation of the neck is the cornerstone of cervical management. Palpate gently—
osteomyelitis
the more one presses, the less one feels.
meningitis
Most episodes of neck pain, including acute torticollis, are transient, lasting from Vertebral fractures or dislocation
about 2–10 days.
Pitfalls (often missed)
A dull aching neck is typical of those aged 12–50 years. Disc prolapse
Myelopathy
In one study, 70% of people with neck pain who sought medical attention had
Cervical lymphadenitis
recovered or were recovering within 1 month.2
Fibromyalgia syndrome
More than 75% of the total cost of neck pain is attributable to indirect costs such as Outlet compression syndrome (e.g. cervical rib)
disability and work absenteeism.4 Yellow flags are important to address early on. Polymyalgia rheumatica
Ankylosing spondylitis
Effective management of neck pain is based on the theoretical principle that stiff
dysfunctional joints are painful and restoration of normal movement may be Rheumatoid arthritis
associated with resolution of pain. Oesophageal foreign bodies and tumours
Paget disease
The optimal treatment for dysfunctional joints (without organic disease or
radiculopathy) is active and passive mobilisation, especially exercising. Seven masquerades checklist
Depression
Thyroid disorder (thyroiditis)
A diagnostic approach Spinal dysfunction
Is the patient trying to tell me something?
A summary of the diagnostic strategy model is presented in TABLE 51.2 . Highly probable. Stress and adverse occupational factors relevant.

Table 51.2 Neck pain: diagnostic strategy model

Probability diagnosis
Probability diagnosis
The main causes of neck pain are vertebral dysfunction, especially of the facet joints, and
Vertebral dysfunction (non-specific neck pain)
traumatic strains or sprains affecting the musculoligamentous structures of the neck. The so-
Traumatic ‘strain’ or ‘sprain’ called myofascial syndrome is mainly a manifestation of dysfunction of the facet joints. Acute
Cervical spondylosis wry neck (torticollis), which is quite common, is yet another likely manifestation of apophyseal
joint dysfunction. Spondylosis, known also as degenerative osteoarthrosis and osteoarthritis, is
also a common cause, especially in the elderly patient. Spinal cord pathology

Intervertebral disc disruption is also a relatively common phenomenon in the cervical Page 601 Radicular pain in arm
spine, especially at the lower levels C5–6 and C6–7.5
Rheumatoid arthritis and ankylosing spondylitis
Serious disorders not to be missed Down syndrome
Conditions causing neck pain and stiffness may be a sign of meningitis or of cerebral
haemorrhage, particularly subarachnoid haemorrhage, or of a cerebral tumour or retropharyngeal
abscess. Pitfalls
Angina and myocardial infarction should be considered in anterior neck pain. Other visceral There are many pitfalls in the clinical assessment of causes of neck pain, many of them related to
disorders can refer pain to the neck. inflammation.

Arterial dissection of the internal carotid artery or vertebral artery should be kept in mind in
patients presenting with acute neck pain, especially without musculoskeletal symptoms or signs.
Tumours are relatively rare in the cervical spine but metastases do occur and should be kept in
mind, especially with persistent neck pain present day and night.
Metastasis to the spine occurs in 5–10% of those with systemic cancer, making it the second
most common neurological complication of cancer. The cervical spine accounts for some 15% of
spinal metastases.3
Rheumatoid arthritis is the prime severe inflammatory arthropathy that involves the neck but the
neck can be affected by the seronegative spondyloarthropathies, particularly ankylosing
spondylitis, psoriasis and the inflammatory bowel disorders.
While polymyalgia rheumatica affects mainly the shoulder girdle, pain in the lower neck, which
is part of the symptom complex, is often overlooked. Diffuse neck pain in myofascial soft tissue
with tender trigger areas is part of the uncommon but refractory fibromyalgia syndrome.
‘Yellow flags’ are predictive of chronicity and disability. These include:6

The commonest primary tumours are the breast, prostate or lung. Other primaries include the a belief that spinal pain is potentially severely disabling
kidney, thyroid and melanoma.
social or financial problems

Red flag pointers for neck pain history of alcohol or substance addiction

reduced activity levels

History of major trauma; vertebral fracture
the presence of a compensation claim
Age >50 years with new symptoms
Page 602
Constant pain (day and night)
General pitfalls
Fever >38°C
Failing to appreciate how often the benign problem of facet joint dysfunction occurs in the
Anterior neck (throat) pain neck, causing pain and limited movement. This involves failure to appreciate the value of
physical therapy, especially exercise programs, in alleviating the problem.
Pain at multiple sites
Failing to adhere to the idiom: one disc—one nerve root. Involvement of more than one nerve
History of cancer root in the upper limb may mean a neoplastic disorder such as metastatic disease, lymphoma
in the thoracic outlet and similar serious diseases.
Unexplained weight loss
Missing the insidious onset of myelopathy, especially the spasticity component, caused by
Neurological deficit rheumatoid arthritis, osteophytic overgrowth or, rarely, a soft disc prolapse.
 Failing to actively address psychosocial barriers to recovery. Is the pain present day and night?

Do you get pain or pins and needles or numbness in your arms?

Seven masquerades checklist
Does the pain come on with activity?
Cervical spinal dysfunction is the obvious outstanding cause. Thyroiditis may cause neck pain,
as in the extremely rare cases of acute specific infection in the thyroid (e.g. syphilis, pyogenic Does the pain wake you at night?
infections), which cause severe pain; non-specific thyroiditis (de Quervain thyroiditis) produces
painful swelling with dysphagia. The association between depression and neck pain is well Do you feel pain on both sides of your neck and over your shoulders?
documented.
Do your hands or arms feel weak or clumsy?
Psychogenic considerations
Examination
The neck is one of the commonest areas for psychological fixation following injury. This may
involve perpetuation or exaggeration of pain because of factors such as anxiety and depression, It is appropriate to follow the traditional rule for examination of any joint or complex of joints:
conversion reaction and secondary gain. look, feel, move, measure, test function, look elsewhere and X-ray. Careful examination of the
cervical spine is essential for the correct diagnosis and for specific treatment at the painful level.
The psychological sequelae that can follow a whiplash injury and chronic neck problems such as
spondylosis serve as a reminder that the state of the patient’s cervical spine can profoundly affect Three objectives of the examination are to:
his or her life and that we should always be aware of the whole person. A feeling of depression is
a very common sequel to such an injury and these patients demand our dutiful care and reproduce the patient’s symptoms
understanding.
identify the level of lesion or lesions

The clinical approach determine the cause (if possible)

A neurological examination is essential if radicular pain is present, or weakness or other upper

History limb symptoms, including any pain or paraesthesia that extends below the elbow.

It is important to analyse the pain into its various components, especially the nature of its onset, Inspection
its site and radiation, and associated features. The diurnal pattern of the pain will provide a lead
to the diagnosis (refer to FIG. 28.3 : the patterns are similar to low back pain). The patient should be examined sitting on a couch, rather than on a chair. The body should be
fully supported with the hands resting on the thighs. The following should be noted:
Key questions
willingness to move the head and neck
Can you point to exactly where in your neck you get the pain?
level of the shoulders
Do you wake up with pain in the morning?
any lateral flexion
Does the pain come on when you have to look up for a while?
contour of the neck from the side
Do you have trouble reversing your car?
In the patient with torticollis the head is held laterally flexed with, perhaps, slight rotation to one
Can you recall an injury to your head or neck such as hitting your head on an overhead bar? side—usually away from the painful side. Patients suffering from whiplash injury and severe
spondylosis tend to hold the neck stiff and the head forward, and tend to turn the trunk rather
Does your neck grate or get stiff? than rotate the neck.
Do you get headaches or feel dizzy? Page 603
Palpation
For this vital component of the examination it is essential to know the surface anatomy of the
neck so that the affected level can be determined.

Method

The patient lies prone on the examination couch with the forehead resting on the hands (palms
up). The neck should be flexed forward and the shoulders relaxed.

1. Central digital palpation

Systematically palpate the first spinous processes of the cervical vertebrae.

C2 (axis) is the first spinous process palpable beneath the occiput.

C7 is the largest ‘fixed’ and most prominent process—situated at the base of the neck.

C6 is also prominent but usually ‘disappears’ under the palpating finger with extension of FIGURE 51.2 Relative sizes of spinous processes of the cervical spine
the neck.

The spinous processes of C3, C4 and C5 are difficult to palpate because of cervical lordosis Movement
but their level can be estimated (see FIG. 51.2 ).
Active movements are observed with the patient sitting on the couch. The movements are as
Standing at the patient’s head, place opposed pulps of the thumbs on the spinous processes follows with normal range indicated:
(starting at C2) and then move down the middle line to C7. Press firmly over each and with
arms straight oscillate with moderate firmness three or four times to assess pain, stiffness or flexion—45°
muscle spasm.
extension—50°
2. Lateral digital palpation
lateral flexion (R and L)—45°
The facet joints lie in sequence (called the articular pillar) about 2 to 3 cm from the midline.
rotation (R and L)—75°
Press with opposed thumbs against this pillar in a systematic manner on either side of the
midline (top to base) to determine any painful area. Palpation should be extended to include Lhermitte sign is an electric shock-like pain throughout the body (especially in the legs) upon
the anterior neck, searching for evidence of lymphadenitis, muscle spasm, thyroid disorder and
flexion of the neck. It indicates cervical pathology.
other problems.
If there is a full range of pain-free movement, apply overpressure slowly at the end range and
note any pain.

The range of movements can be plotted on a special grid called a direction of movement (DOM)
diagram (see FIG. 51.3 ). This provides a ready reference for serial assessments.
 C7 Hand/middle and ring Triceps Elbow Triceps (C7–
fingers extension 8)
C8 Inner forearm/little Long flexors Grip Fingers
finger, e.g. pad of finger, long (C8)/flexors
finger extensors thumb
T1 Inner arm Interossei Finger
spread

FIGURE 51.3 Direction of movement diagram to record movements of the

neck. This record shows restricted and painful movements (indicated by II) in
right lateral flexion and right rotation; the other movements are free.

Neurological examination
A neurological examination for nerve root lesions (C5 to T1) is indicated if the clinical
assessment identifies the presence of neurological symptoms and signs such as pain, paraesthesia
or anaesthesia in the arm. Nerve root pressure is indicated by:

pain and paraesthesia along the distribution of the dermatome

localised sensory loss

reduced muscular power (weakness or fatigue or both)

hyporeflexia (reduced amplitude or fatigue or both)

It is necessary to know the sensory distribution for each nerve root and the motor Page 604
changes. This is summarised in TABLE 51.3 . The dermatomes are illustrated in
FIGURE 51.4 .

FIGURE 51.4 Dermatomes of the upper limb, head and neck

Table 51.3 Cervical nerve root syndromes

Nerve
Investigations
Sensory change Muscle power Power loss Reflex
root
Most non-traumatic, acute neck pain presenting in general practice does not require any imaging
C5 Outer arm/medial Deltoid Abduction Biceps jerk or blood test. Where red flags are present, investigations are directed to diagnosing the painful
scapula arm (C5, 6) condition and determining if suspected or true organic disease is present in the spine. It is
C6 Outer Biceps Elbow Biceps + inappropriate to perform sophisticated investigations such as CT scans on most patients.
forearm/thumb/index flexion brachioradialis Scanning should be reserved where surgery is contemplated and serious disease is suspected but
finger/dorsal forearm (C5, 6) not confirmed by plain X-ray.
Extension
wrist
Investigations to consider include:
 haemoglobin, film and WCC Problems with a higher probability with increasing age include:

ESR/CRP cervical spondylosis with radiculopathy or myelopathy

rheumatoid factor atlantoaxial subluxation complicating rheumatoid arthritis

radiology: polymyalgia rheumatica

plain X-ray (not indicated in absence of red flags and major trauma) metastatic cancer

CT scan (good for bone definition) Pancoast tumour of the lung

CT scan and myelogram (if cervical disc surgery contemplated) angina and myocardial infarction

radionucleide bone scan (for suspected metastatic disease) pharyngeal and retropharyngeal infection and tumour

MRI: the investigation of choice for cervical radiculopathy, myelopathy, suspected spinal
infection and tumour Clinical problems of cervical spinal origin
These should be selected conservatively. CT imaging has high radiation levels. Pain originating from disorders of the cervical spine is usually, although not always, experienced
in the neck. The patient may experience headache, or pain around the ear, face, arm, shoulder,
Neck pain in children upper anterior or posterior chest.7

Possible symptoms include:

In children and adolescents, neck pain, often with stiffness, may be a manifestation of infection
or inflammation of cervical lymph nodes, usually secondary to an infected throat—for example, neck pain, stiffness
tonsillitis or pharyngitis. However, it is vital to consider the possibility of meningitis. Sometimes
a high fever associated with a systemic infection or pneumonia can cause meningism. In the headache, including migraine-like
presence of fever the rare possibility of poliomyelitis should be kept in mind. In both children
and adults the presence of cerebral pathology, such as haemorrhage, abscess or tumour are facial pain
uncommon possibilities.7 Acute torticollis is quite common in this age group and the neck may
be involved in chronic juvenile arthritis. arm pain (referred or radicular)

Page 605
myelopathy (sensory and motor changes in arms and legs)

Neck pain in the elderly ipsilateral sensory changes of scalp

ear pain (peri-auricular)

In adults the outstanding causes are dysfunction of the joints and spondylosis, with the acute
febrile causes encountered in children being rare. However, cerebral and meningeal disorders scapular pain
may cause pain and stiffness in the neck.7
anterior chest pain
Neck pain is common in rheumatoid arthritis and to a lesser extent the spondyloarthropathies.
The painful, acute wry neck can affect all ages and is considered to be caused mainly by acute torticollis
disorders of the apophyseal joints rather than disc prolapse. However, disc lesions do occur and
can cause referred pain or radicular pain. In the elderly, radicular pain can also be caused by dizziness/vertigo
impingement of the nerve root in the intervertebral foramen that has become narrowed from the
degenerative changes of longstanding spondylosis. FIGURE 15.1 in CHAPTER 15 indicates typical directions of referred pain from the cervical
spine. Pain in the arm (brachialgia) is common and tends to cover the shoulder and upper arm as
indicated. The aim of treatment is to reduce pain, maintain function and minimise the risk of chronicity.

Provide appropriate reassurance, information and support.

Cervical dysfunction
Give advice to the patient about rules of living, including the following: Page 606
Dysfunction of the 35 intervertebral joints that comprise the cervical spine complex is
responsible for most cases of neck pain. The problem can occur at all ages and appears to be Do:
caused by disorder (including malalignment) of the many facet joints, which are pain-sensitive.
Dysfunction of these joints, which may also be secondary to intervertebral disc disruption, Stay active and resume normal activities.
initiates a reflex response of adjacent muscle spasm and myofascial tenderness.
Keep your neck upright in a vertical position for reading, typing and so on.

Acute non-specific neck pain Keep a good posture—keep the chin tucked in.

Acute non-specific neck pain (ANP) is most commonly idiopathic or due to a whiplash accident. Sleep on a low, firm pillow or a special conforming pillow.
Serious causes are rare.8 Dysfunction can follow obvious trauma such as a blow to the head or a
sharp jerk to the neck, but can be caused by repeated trivial trauma or activity such as painting a Sleep with your painful side on the pillow.
ceiling or gentle wrestling. People often wake up with severe neck pain and blame it on a ‘chill’
from a draught on the neck during the night. This is incorrect because it is usually caused by an Use heat and massage: massage your neck firmly three times a day using an analgesic
unusual twist on the flexed neck for a long period during sleep. ointment.

Don’t:
Clinical features9
Look up in a strained position for long periods.
Typical age range 12–50 years
Twist your head often towards the painful side (e.g. when reversing a car).
Dull ache (may be sharp) in neck
Lift or tug with your neck bent forwards.
May radiate to occiput, ear, face and temporal area (upper cervical)
Work, read or study with your neck bent for long periods.
May radiate to shoulder region, especially suprascapular area (lower cervical)
Become too dependent on ‘collars’.
Rarely refers pain below the level of the shoulder
Sleep on too many pillows.
Pain aggravated by activity, improved with rest
Monitor the patient’s progress without overtreatment.
Various degrees of stiffness
Analgesia:9
Neck tends to lock with specific movements, usually rotation
first-line: paracetamol 1 g (o) qid or 1.33 g (o) 8 hourly, or an NSAID
Localised unilateral tenderness over affected joints
consider tricyclic antidepressant for night pain or resistant pain, e.g. amitriptyline or
Variable restriction of movement but may be normal nortriptyline
X-rays usually normal (or, more accurately: have the same rate of abnormalities as those Prescribe an exercise program as early as possible; start with gentle exercises and maintain
without neck pain). Imaging is not indicated for the investigation of ANP in the absence of them at home. Suitable exercises are shown in FIGURE 51.5 .
‘red flags’ and a history of trauma8
Refer to an appropriate therapist for cervical mobilisation for persisting pain. Mobilisation
Management combined with exercises can be an effective treatment. Occasionally, manipulation may help
 with a stubborn ‘locked’ neck but should be left to an expert. If manipulation, which carries Staying active: resuming normal activities
the rare but real risk of vertebral artery dissection and stroke, is to be performed, informed
consent and an experienced therapist are required.10 Exercises

Combined cervical passive mobilisation/exercises

Pulsed electromagnetic therapy (up to 12 weeks)

Chronic non-specific pain (lasting more than 3 months)9

Continue normal activities, exercises and effective analgesics as for ANP.

None of the additional treatment modalities have consistent supportive evidence. However,
consider the following:

a course of antidepressants

TENS, especially when drugs are not tolerated

hydrotherapy/thermography

acupuncture (may provide short-term relief)

corticosteroid facet injections (ideally under image intensification)

facet joint denervation with percutaneous radiofrequency (if nerve block provides relief)

multidisciplinary rehabilitation program

Page 607

Cervical spondylosis9
Cervical spondylosis following disc degeneration and apophyseal joint degeneration is far more
common than lumbar spondylosis and mainly involves the C5–6 and C6–7 segments. The
consequence is narrowing of the intervertebral foramen with the nerve roots of C6 and C7 being
at risk of compression.

FIGURE 51.5 Examples of exercises for the neck: (a) resisted side bending, Cervical spondylosis is generally a chronic problem but it may be asymptomatic. In some
patients the pain may lessen with age, while stiffness increases.
(b) rotation, (c) chin retraction

Approximately 40% of patients recover fully from acute idiopathic ANP, about 30% continue to Clinical features
have mild symptoms, while 30% continue to have moderate or severe symptoms.8
Dull, aching suboccipital neck pain (see FIG. 51.6 )

Evidence of benefit (in summary)8 Stiffness

Worse in morning on arising and lifting head

Improves with gentle activity and warmth (e.g. warm showers)

Deteriorates with heavy activity (e.g. working under car, painting ceiling)

Usually unilateral pain—may be bilateral

Pain may be referred to head, arms and scapulae

May wake patient at night with paraesthesia in arms

C6 nerve root most commonly involved

Acute attacks on chronic background

Aggravated by flexion (reading) and extension

Associated vertigo or unsteadiness

Restricted tender movements, especially rotation/lateral flexion

Joints tender to palpation

X-ray changes invariable

FIGURE 51.6 Cervical spondylosis: typical pain distribution with direction of

movement diagram indicating painful and restricted movements

Treatment
Provide appropriate reassurance, information and support.

Refer for physiotherapy, including warm hydrotherapy.

Use regular mild analgesics (e.g. paracetamol).

Use NSAIDs: a trial for 2 weeks and then review.

Prescribe gentle mobilising exercises as early as possible.

Give passive mobilising techniques.

Outline general rules to live by, including advice regarding sleeping and pillows, and day-to-
day activities.
Complications Method

Radiculopathy (unilateral or bilateral) 1. Explain the method to the patient, with reassurance that it is not painful.

Myelopathy—pressure on spinal cord 2. Rotate the patient’s head passively and gently towards the painful side to the limit of pain (the
motion barrier).
Spinal canal stenosis
3. Place your hand against the head on the side opposite the painful one. The other (free) hand
Acute torticollis can be used to steady the painful level—usually C3–4.

4. Request the patient to push the head (in rotation) as firmly as possible against the resistance of
Torticollis (acute wry neck) means a lateral deformity of the neck. This is usually a transient self-
your hand. The patient should therefore be producing a strong isometric contraction of the
limiting acutely painful disorder with associated muscle spasm of variable intensity.
neck in rotation away from the painful side (see FIG. 51.7A ). Your counterforce (towards the
painful side) should be firm and moderate (never forceful) and should not ‘break’ through the
Clinical features patient’s resistance.
Age of patient between 12 and 30 years 5. After 5–10 seconds (average 7 seconds) ask the patient to relax; then passively stretch the
neck gently towards the patient’s painful side (see FIG. 51.7B ).
Patient usually awakes with the problem
6. The patient will now be able to turn the head a little further towards the painful side.
Pain usually confined to neck but may radiate
7. This sequence is repeated at the new improved motion barrier. Repeat three to five times until
Deformity of lateral flexion and slight flexion/rotation
the full range of movement returns.
Deformity usually away from the painful side
8. Ask the patient to return the following day for treatment, although the neck may be almost
Loss of extension normal.

Mid-cervical spine (C2–3, C3–4, C4–5)

Any segment between C2 and C7 can cause torticollis

Usually no neurological symptoms or signs

The exact cause of this condition is uncertain, but both an acute disc lesion and Page 608
apophyseal joint lesion are implicated, with the latter the more likely cause. Acute
torticollis is usually a transient and self-limiting condition that can recover within 48 hours.
Sometimes it can last for about a week. Encourage heat massage and early mobility. Avoid
cervical collars. Management by mobilisation and muscle energy therapy is very effective.

Muscle energy therapy

This therapy relies on the basic physiological principle that the contracting and stretching of
muscles leads to automatic relaxation of agonist and antagonist muscles.11,12 Lateral flexion or
rotation or a combination of movements can be used, but treatment in rotation is preferred. The
direction of contraction can be away from the painful side (preferred) or towards the painful side,
whichever is most comfortable for the patient.
 discs. Damage to the apophyseal joints appears to be severe, with possible microfractures (not
detectable on plain X-ray) and long-term dysfunction.

Pain and stiffness of the neck are the most common symptoms. The pain is usually Page 609
experienced in the neck and upper shoulders but may radiate to the suboccipital region,
the interscapular region and down the arms. The stiffness felt initially in the anterior neck
muscles shifts to the posterior neck.

Headache is a common and disabling symptom that may persist for many months. It is typically
occipital but can be referred to the temporal region and the eyes.

Nerve root pain can be caused by a traction injury of the cervical nerve roots or by inflammatory
changes or direct pressure subsequent to herniation of a disc.

Paraesthesia of the ulnar border of the hand, nausea and dizziness are all relatively common
symptoms.

Delayed symptoms are common. A patient may feel no pain until 24 (sometimes up to 96) hours
later; most experience symptoms within 6 hours. Complications of whiplash are summarised in
TABLE 51.4 .

Table 51.4 Complications of whiplash

FIGURE 51.7 Muscle energy therapy for acute torticollis: (a) isometric Referred pain (headache, arm pain)
contraction phase for problem on the left side, (b) relaxation phase towards the Visual problems
affected (left) side Vertigo
Dysphagia
Depression
The patient can be taught self-treatment at home using this method.
Compensation neurosis
Disc rupture increasing to nerve root pain
Acceleration hyperextension (whiplash) injury
Osteoarthritis becomes symptomatic
Patients with the whiplash syndrome, preferably referred to as an acceleration hyperextension
injury, typically present with varying degrees of pain-related loss of mobility of the cervical
spine, headache and emotional disturbance in the form of anxiety and depression. The problem The Canadian guidelines (1995) for whiplash are:
can vary from mild temporary disability to a severe and protracted course.
Grade I—neck pain, stiffness or tenderness
The injury occurs as a consequence of hyperextension of the neck followed by recoil
hyperflexion, typically following a rear-end collision between motor vehicles. There is a reversal Grade II—neck symptoms + musculoskeletal signs (e.g. decreased range of motion, point
of the sequence of these movements in a head-on collision. In addition to hyperextension, there tenderness)
is prolongation or anterior stretching plus longitudinal extension of the neck.10 It can also occur
with other vehicle accidents and in contact sports such as football. Grade III—neck symptoms + neurological signs

Whiplash causes injury to soft tissue structures, including muscle, nerve roots, the cervical Grade IV—neck symptoms + fracture or dislocation
sympathetic chain, ligaments, apophyseal joints and their synovial capsules and intervertebral
Management principles www.sira.nsw.gov/.

The objective of treatment is to obtain a full range of free movement of the neck without pain by
attending to both the physical and the psychological components of the problem. Other
objectives include an early return to work and discouragement of unnecessary and excessive
reliance on cervical collars and legal action.
A 2018 systematic review found that poor expectations of recovery, post-traumatic stress
symptoms and passive coping are the most consistent prognostic factors of chronic neck pain
and/or disability after any whiplash injury.13
Treatment
Cervical disc disruption
Disruption of a cervical disc can result in several different syndromes.
1. Referred pain over a widespread area due to pressure on adjacent dura mater.
Note: A disc disruption is capable of referring pain over such a diffuse area (see FIG. 51.8 )
that the patient is sometimes diagnosed as functional (e.g. hysterical).
2. Nerve root or radicular pain (radiculopathy). The pain follows the dermatomal distribution of
the nerve root in the arm.

Establish an appropriate empathy and instil patient confidence with a positive, professional 3. Spinal cord compression (myelopathy).
approach. Discourage multiple therapists.

Provide appropriate reassurance and patient education.

Encourage normalisation of activities as soon as possible.

Compare the problem with a sprained ankle, which is a similar injury.

Inform that an emotional reaction of anger, frustration and temporary depression is common
(lasts about 2 weeks). Offer psychotherapy, e.g. CBT for evidence of post-traumatic stress.

X-ray is required for ‘red flags’.

Prescribe rest only for grades II and III (max. 4 days).

Use a cervical collar (limit to 2 days) for grades II and III. Provide collar and refer for grade
IV.

Use analgesics (e.g. paracetamol)—avoid narcotics.

Use a trial of NSAIDs for 14 days (poor evidence).

Use tranquillisers, mild—up to 2 weeks.

Refer for physiotherapy.

Provide neck exercises (as early as possible). FIGURE 51.8 Zone of possible referred pain distribution caused by a cervical
disc lesion on the right side
Use heat and massage—‘spray and stretch’—or ice.

Give passive mobilisation (not manipulation).11 Radiculopathy

Recovery can take any time from 1–2 weeks up to about 3 months. A valuable reference is the Apart from protrusion from an intervertebral disc, nerve root pressure or irritation causing arm
Quebec Task Force Classification of Grades of Whiplash Associated Disorders. Available from: pain can be caused by osteophytes associated with cervical spondylosis. Uncommon causes
include various tumours involving the vertebral segment, the meninges and nerves or their analgesics (according to severity—see CHAPTER 28 )
sheaths. The pain follows neurological patterns down the arm, being easier to localise with lower
cervical roots, especially C6, C7 and C8. consider a course of corticosteroids for severe neck radicular pain, e.g. prednisone 30 mg (o)
daily for 5–10 days then taper off to 3 weeks (limited evidence)10
1. The cervical roots exit above their respective vertebral bodies. For example, the C6 Page 610
root exits between C5 and C6 so that a prolapse of C5–6 intervertebral disc or tranquillisers, especially at night
spondylosis of the C5–6 junction affects primarily the C6 root (see FIG. 51.4 ).
traction (with care)
2. One disc—one nerve root is the rule.
careful mobilisation including exercises (manipulation is contraindicated)
3. Spondylosis and tumours tend to cause bilateral pain (i.e. more than one nerve root).

Clinical features
Cervical spondylitic myelopathy
A sharp aching pain in the neck, radiating down one or both arms Sometimes the presence of large or multiple osteophytes or in the presence of a narrowed spinal
canal symptoms of spinal cord involvement may develop.14,15 The common cause is a hard mass
Onset of pain may be abrupt, often precipitated by a sudden neck movement on awakening of material projecting from the posterior aspect of the vertebral body to indent the spinal cord
and possibly the nerve roots at the exit foramina. This resultant spinal cord compression may
Paraesthesia in the forearm and hand (in particular)—in 90% with proven disc prolapse11 result in several different clinical presentations, notably myelopathy in particular, but also central
cord and anterior cord syndrome. A full neurological assessment is necessary. Urgently refer
Stiffness of neck with limitation of movement patients for neurosurgical assessment.
Nocturnal pain, waking patient during night
Clinical features
Pain localised to upper trapezius and possible muscle spasm
Older people, typically men >50 years
Investigations Insidious onset—symptoms over 1–2 years
Plain X-ray (AP, lateral extension and flexion, oblique views to visualise foramina); not Numbness and tingling in fingers
required before 6–8 weeks unless red flags present; not useful for diagnosis or for surgery
Leg stiffness
Plain CT scan
Gait disturbance
CT scan and myelogram—excellent visualisation of structures but invasive
Numb, clumsy hands, especially with a high cervical lesion
MRI—excellent but expensive, sometimes difficult to distinguish soft disc from osteophytes
Signs of UMN: spastic weakness, increased tone and hyper-reflexia (arms > legs) ± Page 611
Electromyography—may help delineate lesions requiring surgery clonus

Treatment Neurological deficit, which predicts the level with reasonable accuracy

Many people respond to conservative treatment, especially from a disc prolapse. It is basically a Bowel and bladder function usually spared
self-limiting disorder—about 10% remain severely disabled:12
Note: LMN signs occur at the level of the lesion, and UMN signs and sensory changes occur
neck exercises below this level.

consider semi-hard cervical collar, especially during the day Causes

 Cervical spondylosis Rheumatoid arthritis9,18
Atlantoaxial subluxation: rheumatoid arthritis, Down syndrome
Involvement of the cervical spine is usually a late manifestation of rheumatoid arthritis (RA). It
is important to be aware of the potentially lethal problem of C1–2 instability due to erosion of
Primary spinal cord tumours (e.g. meningiomas)
the major odontoid ligaments in the rheumatoid spine. These patients are especially vulnerable to
Metastasis to cervical spine → epidural spinal cord compression disasters when under general anaesthesia and when involved in motor vehicle accidents. Early
cervical fusion can prevent tragedies, especially with inappropriate procedures such as cervical
Investigations manipulation. It is imperative to perform imaging of the cervical spine of all those with severe
RA before major surgery to search for C1–2 instability. Lateral plain X-rays in flexion and
MRI scan extension may reveal increased distance in the atlanto–dens interval. This can be assessed further
with MRI or CT scanning in a specialist clinic.
CT scan with myelogram (most accurate)
Treatment of spondylitic myelopathy
Central cord syndrome15,16,17 Conservative (may help up to 50%):2
This rather bizarre condition occurs classically in a person with a degenerative cervical spine
soft or semi-hard cervical collar
following a hyperextension injury that causes osteophytes to compress the cord anteriorly and
posteriorly simultaneously. physiotherapy for muscle weakness
The maximum damage occurs in the central part of the cord, leading to sensory and motor analgesics and/or NSAIDs
changes in the upper limbs with relative sparing of the lower limbs due to the arrangements of
the long tracts in the cord. Surgery is indicated when the myelopathy interferes with daily activities. One procedure is the
Cloward method, which is anterior decompression with discectomy and fusion. The aim of
Fortunately, the prognosis is good, with most patients achieving a good neurological recovery. surgery is to halt deterioration.

Anterior cord syndrome17 When to refer

Anterior cord syndrome occurs with hyperflexion injuries that produce ‘teardrop’ fractures of the
vertebral bodies or extrusion of disc material. The syndrome can also be produced by Persisting radicular pain in an arm despite conservative treatment
comminuted vertebral body fractures.
Evidence of involvement of more than one nerve root lesion in the arm
It is characterised by complete motor loss and the loss of pain and temperature discrimination
below the level of the injury, but deep touch, position, two-point discrimination and vibration Severe symptoms with motor weakness
sensation remain intact.
Evidence of myelopathy, such as weakness, numbness or clumsiness of the upper limbs
Because it is probably associated with obstruction of the anterior spinal artery, early surgical
intervention to relieve pressure on the front of the cord may enhance recovery. Otherwise the Evidence, clinical or radiological, of cervical instability in post-accident victims, or people
with Down syndrome or rheumatoid arthritis
prognosis for recovery is poor.
Page 612
Down syndrome
Practice tips
One of the more sinister problems with trisomy 21 syndrome is hypoplasia of the odontoid
process, leading to C1–2 subluxation and dislocation. If unrecognised in the early stages, sudden
‘One disc—one nerve root’ is a working rule for the cervical spine.
death can occur in these children. If suspected, flexion–extension lateral views of the cervical
spine will highlight the developing instability and the need for early specialist opinion. The patient should sit on the couch with the thighs fully supported for inspection
 and movements of the neck.
Be alert for patients with RA and Down syndrome who have cervical instability.
Physical treatments such as cervical manipulation may easily cause quadriplegia.
All acutely painful conditions of the cervical spine following trauma should be
investigated with a careful neurological examination of the limbs, sphincter tone
and reflexes. Plain film radiology is mandatory.
In conscious patients, flexion and extension lateral cervical spinal plain films are
useful for diagnosing instability of spinal segments with or without associated
spinal fractures.
The so-called whiplash syndrome is a diagnosis of exclusion of spinal fractures or
severe ligamentous disruption causing instability, and even then, for medicolegal
and psychological reasons, would best be termed a ‘soft tissue injury of the
cervical spine’.
Most ‘soft tissue cervical spine injuries’ heal within 3 months with conservative
treatment. If severe pain persists, follow-up investigations may be required.
Dysfunction of the cervical spine is an underestimated cause of headache.
Always consider dysfunction of the cervical spine as a possible cause of shoulder
pain.
Strains and fractures of the apophyseal joints, especially after a whiplash injury,
are difficult to detect, and are often overlooked causes of neck and referred pain.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Exercises for your neck
Neck: painful neck
Whiplash
Wry neck (torticollis)
References
1 Gordon SJ, Trott P, Grimmer KA. Waking cervical pain and stiffness, headache, scapula
or arm pain: gender and age effects. Australian Journal of Physiotherapy, 2002; 48(1): 9–
15.
2 Cohen ML. Neck pain. Modern Medicine Australia, 1989; November: 44–53.
3 Payne R. Neck pain in the elderly: a management review. Modern Medicine Australia,
1988; July: 56–67.
4 Borghouts JA et al. Cost-of-illness of neck pain in The Netherlands in 1996. Pain, 1999;
80: 629–36.
5 Bogduk N. Neck pain. Aust Fam Physician, 1984; 13: 26–9.
6 Teichtahl A, McColl G. An approach to neck pain for the family physician. Aust Fam
Physician, 2013; 42(11): 774–7.
7 Hart FD. Practical Problems in Rheumatology. London: Dunitz, 1985: 10–14.
8 Australian Acute Musculoskeletal Pain Guidelines Group, National Health and Medical
Research Council. Evidence-Based Management of Acute Musculoskeletal Pain: A Guide
for Clinicians. Canberra: Australian Government, 2003: 36–43.
9 Global Burden of Disease Study 2013 Collaborators. Global, regional, and national
incidence, prevalence, and years lived with disability for 301 acute and chronic diseases
and injuries in 188 countries, 1990–2013: a systematic analysis for the Global Burden of
Disease Study 2013. The Lancet, 2015; 22: 743–800.
10 Rheumatology [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed November 2019.
11 Vincent K et al. Systematic review of manual therapies for nonspecific neck pain. Joint
Bone Spine, 2013; 80(5): 508–15.
12 Beran RG et al. Serious complications with neck manipulation and informed consent. Med
J Aust, 2000; 173: 213–14.
13 Campbell L et al. Psychological factors and the development of chronic whiplash-
associated disorder(s). Clinical Journal of Pain, 2018; 34(8): 755–68.
14 Kenna C, Murtagh J. Back Pain and Spinal Manipulation (2nd edn). Oxford: Butterworth-
Heinemann, 1997: 83–99.
15 Bogduk N. Medical Management of Acute Cervical Radicular Pain: An Evidence Based
Approach. Newcastle: Newcastle Bone and Joint Institute, 1999: 5–59.
16 Porter RS, Kaplan JL. The Merck Manual (19th edn). Whitehorse Station: Merck, Sharpe
& Dohme Corp., 2011: 1808–9.
17 Young D, Murtagh J. Pitfalls in orthopaedics. Aust Fam Physician, 1989; 18: 645–6.
18 Zhang T, Pope J. Cervical spine involvement in rheumatoid arthritis over time: results Page 613
from a meta-analysis. Arthritis Res Ther, 2015; 17: 148.

52 Shoulder pain

Search for clues—difficulty reaching into the hip pocket to remove a wallet may indicate loss of
function due to total rupture of the supraspinatus tendon, while a complete rotator-cuff tear may
lead the patient to lift the affected limb to the clothes line and leave it suspended there by the
hand while hanging out the laundry.

MICHAEL HAYES 1996

The painful shoulder is a relatively common and sometimes complex problem encountered in
general practice. The diagnostic approach involves determining whether the disorder causing the
pain arises from within the shoulder structures or from other sources such as the cervical spine
(see FIG. 52.1 ), the acromioclavicular (AC) joint or diseased viscera, especially the heart, lungs
and sub-diaphragmatic structures.

FIGURE 52.1 Typical pain zone arising from disorders of the shoulder joint
and the lower cervical spine (C5 level)

Note: The term tendinopathy or tendinosis is preferred to tendinitis since it has been shown that
overuse tendon conditions generally have a non-inflammatory pathology.

Key facts and checkpoints

 Virtually all shoulder structures are innervated by the fifth cervical vertebra (C5)
nerve root. Pain present in the distribution of the C5 nerve can arise from the:
cervical spine
upper roots of brachial plexus
AC joint (ACJ) there are two most significant functional joints—the glenohumeral (the primary
joint) and the subacromial complex (the secondary joint) (see FIG. 52.2 ). The glenohumeral
joint is a ball and socket joint enveloped by a loose capsule. It is prone to injury from traumatic
forces and develops osteoarthritis more often than appreciated. Two other relevant functional
joints are the scapulothoracic and sternoclavicular joints.

acromioclavicular joint

glenohumeral joint

rotator cuff tendons, especially supraspinatus

biceps tendon

soft tissue (e.g. polymyalgia rheumatica)

viscera, especially those innervated by the phrenic nerve (C3, C4, C5)

The visceral diseases causing a painful shoulder include cardiac disorders, such as
angina and pericarditis; lung diseases, especially Pancoast tumour; mediastinal
disorders; and diaphragmatic irritation, as from intra-abdominal bleeding or a
subphrenic abscess.

A careful history should generally indicate whether the neck or the shoulder is
responsible for the pain.

By the age of 50, about 25% of people have some wear and tear of the rotator cuff,
making it more injury-prone.1

Disorders of the rotator cuff are common, especially supraspinatus tendinopathy.
The most effective tests to diagnose these problems are the resisted movement
tests.1
Injections of local anaesthetic and long-acting corticosteroid produce excellent
results for inflammatory disorders around the shoulder joint, especially for
supraspinatus tendinopathy. They are simple to perform and do not require
ultrasound guidance.
The diagnosis is usually made on the history and examination. Blood tests are
usually not necessary and imaging has a limited place and value.2
Functional anatomy of the shoulder
A working knowledge of the anatomical features of the shoulder is essential for
understanding the various disorders causing pain or dysfunction of the shoulder. Apart from the
FIGURE 52.2 The basic anatomical structures of the shoulder joint
The clinically important perihumeral space lies above the glenohumeral joint (GHJ) between the
head of the humerus and an arch formed by the bony acromion, the thick coracoacromial
ligament and the coracoid process. This relatively tight compartment houses the subacromial
bursa and the rotator cuff, particularly the vulnerable supraspinatus tendon.3 Excessive friction
and pinching in this space render these structures prone to injury.
There is a critical zone of relative ischaemia that appears to affect the rotator cuff about 1 cm
medial to the attachment of the supraspinatus tendon,4 and this area is compromised during
adduction and abduction of the arm due to pressure on the rotator cuff tendons from the head of
the humerus. The so-called ‘impingement interval’ is the space between the undersurface of the
acromion and the superior aspect of the humeral head. This space is normally narrow
(6–14 mm), especially when the arm is abducted.
Such factors are largely responsible for the many rotator cuff syndromes, including subacromial
Page 614 bursitis and lesions of the supraspinatus tendon and also bicipital tendinopathy.
 Thyroid disorder (rarely)
A diagnostic approach Spinal dysfunction
A summary of the diagnostic strategy model is presented in TABLE 52.1 . Is the patient trying to tell me something?
Shoulder is prone to (uncommonly) psychological fixation for secondary gains,
depression and conversion reaction.
Table 52.1 Shoulder pain: diagnostic strategy model

Probability diagnosis
Cervical spine dysfunction (referred pain)
Probability diagnosis
Rotator cuff tendinopathy ± a tear The commonest causes of pain in the shoulder zone (see FIG. 52.1 ) are cervical disorders and
Adhesive capsulitis (‘frozen shoulder’) periarthritis (i.e. soft tissue lesions involving the tendons around the glenohumeral joint). The
AC joint disorders outstanding periarthritic disorders are the rotator cuff disorders (most common) and adhesive
capsulitis. The supraspinatus tendon is subjected to considerable friction and wear and tear, and
Glenoid labral tears
prone to calcific tendinitis and an acute tear.
Serious disorders not to be missed
Cardiovascular: Serious disorders not to be missed
angina
As usual it is important to exclude any malignancy or septic infection, be it septic arthritis or
myocardial infarction
osteomyelitis. Lung cancer (Pancoast syndrome), myeloma and bony metastases should be kept
Neoplasia: in mind. For pain in the region of the left shoulder the possibility of myocardial ischaemia has to
Pancoast tumour be considered. Referred pain to the right shoulder from myocardial ischaemia is rare, occurring
primary or secondary in humerus about once for every 20 episodes of left shoulder referral.
Severe infections:
Referred pain from the diaphragm and intra-abdominal disorders (e.g. biliary, Page 615
septic arthritis (especially children) perforated ulcer, splenic rupture) should be kept in mind.
osteomyelitis
Axillary vein thrombosis With an acute onset of painful capsulitis the possibility of rheumatoid arthritis (or even gout) is
worth considering.
Rheumatoid arthritis
Intra-abdominal pathology, e.g. bleeding
Pitfalls
Pitfalls (often missed)
Polymyalgia rheumatica The shoulder is notorious for diagnostic traps, especially for referred pain from visceral
structures, but polymyalgia rheumatica is the real pitfall. A good rule is to consider it foremost in
Cervical dysfunction
any older person (over 60) presenting with bilateral shoulder girdle pain that is worse in the
Gout/pseudogout (uncommon) morning.
Osteoarthritis of acromioclavicular joint
Bicipital tendon lesions Specific pitfalls include:
Winged scapula—muscular fatigue pain misdiagnosing posterior dislocation of the shoulder joint
Seven masquerades checklist
misdiagnosing recurrent subluxation of the shoulder joint
Depression
Diabetes overlooking an avascular humeral head (post fracture)
Drugs
misdiagnosing rotator cuff tear or degeneration
Seven masquerades checklist
Of the seven primary masquerades, spinal dysfunction and depression are those most likely to be
The clinical approach
associated with shoulder pain. The degree to which cervical spondylosis is associated with
shoulder pain is not always appreciated. History
Remember that a patient’s description of ‘shoulder’ pain may include anywhere from the lower In analysing the pain pattern it is appropriate to keep the various causes of shoulder pain in mind
border of the scapula to the lateral neck. Ask them to point. (see TABLE 52.3 ). Many of these conditions, such as rheumatoid arthritis, osteoarthritis and
gout, are relatively uncommon.
Diabetes incurs a higher risk of adhesive capsulitis. Drugs are relevant as corticosteroids can
cause avascular necrosis of the humeral head and anabolic steroids (weight-lifters) can cause
osteolysis of the AC joint. Table 52.3 Causes of shoulder pain (excluding
A summary of common shoulder conditions is presented in TABLE 52.2 . trauma, fractures and dislocations)

Cervical:
Table 52.2 Common shoulder conditions5 dysfunction
spondylosis
Typical
age Cervical radiculopathy
Problem Structure affected group Symptoms Diagnostic pointers Polymyalgia rheumatica (bilateral)
Instability Labrum/capsule 15– Dislocations History of dislocation, Acromioclavicular joint:
35 apprehension sign
dysfunction
Stiffness Capsule 40– Pain, night Loss of external rotation osteoarthritis
60 pain, loss of
movement Shoulder complex
Impingement Rotator cuff 30– Night pain, Impingement signs Extracapsular:
(fatigue) 60 pain with subacromial bursitis
overhead rotator cuff disorders:
activities
supraspinatus tendinopathy
Rotator cuff Rotator cuff, 50 + As above Impingement signs, infraspinatus tendinopathy
tear esp. weakness external
supraspinatus rotation, weakness subscapularis tendinopathy
supraspinatus bicipital tendinopathy
Capsulitis GHJ capsule 50– Constant Loss of all movements Intracapsular (glenohumeral joint):
60 severe pain, adhesive capsulitis:
stiffness
idiopathic
AC joint pain ACJ cartilage 25– Localised Paxinos sign blunt trauma
45 AC joint
diabetes
pain
rheumatoid inflammation:
Arthritis GHJ cartilage 70 + Pain, loss of Crepitus rheumatoid arthritis
movement
ankylosing spondylitis
 psoriatic arthropathy Motor or sensory loss in arm
osteoarthritis
avascular necrosis
Page 616
septic arthritis
Key questions
Winged scapula—muscular fatigue pain
Malignant disease: Did you have any injury, even very minor, before your pain started?
primary or secondary in humerus Does the pain keep you awake at night?
Pancoast (referred from lung)
Do you have pain or stiffness in your neck?
Referred pain
Cardiac: Do you have pain or restriction when clipping or handling your bra or touching your shoulder
ischaemic heart disease blades? (indicates painful internal rotation and a problem of capsular restriction or a disorder
of the acromioclavicular joint)
pericarditis
Gall bladder Do you have trouble combing or attending to your hair? (indicates problematic external
Lung rotation—infraspinatus—and also a disorder of the capsule, e.g. adhesive capsulitis)
mediastinum, including oesophagus
Is the pain worse when you wake in the morning? (indicates inflammation)
diaphragmatic irritation
Do you have aching in both your shoulders or around your hips? Page 617
Herpes zoster
Do you get pain associated with sporting activity, including weight training, or with
housework, dressing or other activities?
A careful history should generally indicate whether the neck or the shoulder (or both) is
responsible for the pain. Enquire about features of movement: Could you throw a ball underhand for 10–20 m and/or overhead for 20–25 m with your
affected arm?
stiffness and restriction
Could you lift a full 2 L container (e.g. milk) to the level of your shoulder without bending
excessive movement/instability your elbow (or to the top of your head)?

weakness Could you carry a 20–30 kg weight (e.g. full suitcase) by your side?

rough versus smooth Do NSAIDs give relief?

Examination
Red flag pointers for shoulder pain6
The diagnosis is based on systematic examination of the cervical spine followed by examination
Fever (septic arthritis, osteomyelitis) of the shoulder joint. For details of examination of the cervical spine, refer to CHAPTER 51 .

Skin redness or swelling Examination of the shoulder3,6

History of trauma (dislocation, fracture, rotary cuff tear) For the examination of the shoulder it is important to understand the functional anatomy of all
important tendons. Follow rule: look, feel, move.
History of inflammatory arthritis
The tendon disorders are diagnosed by pain on resisted movement (see TABLE 52.4 ). A
Past history cancer
knowledge of the anatomical attachments of the rotator cuff tendons to the head of the humerus Observe the shape and contour of the shoulder joints and compare both sides. Note the posture
(see FIG. 52.3 ) provides an understanding of the shoulder movements powered by these and the position of the neck and scapula. The position of the scapula provides considerable
muscles. clinical information. Note any deformity, swelling or muscle wasting.

Palpation
Table 52.4 Tendon disorders: determining resisted
movements Stand behind the patient and palpate significant structures such as the AC joint, the subacromial
space, the supraspinatus tendon and the long head of biceps. The subacromial bursa is one area
Painful resisted movement at shoulder Affected tendon where it is possible to localise tenderness with inflammation. Feel also over the supraspinatus
and infraspinatus muscles for muscle spasm and trigger points. The axilla should be palpated for
1 Abduction Supraspinatus lymphadenopathy.
2 Internal rotation Subscapularis
3 External rotation Infraspinatus
Movements
Teres minor* The movements of the shoulder joint are complex and involve the scapulothoracic joint as well
Biceps* as the glenohumeral joint, with each joint accounting for about half the total range. Significant
signs of a painful capsular pattern can be gained by determining the movements of flexion,
4 Adduction Pectoralis major abduction, external rotation and internal rotation.
Latissimus dorsi*
For each movement, note:
*Lesser role
the range of movement

any pain reproduction

any trick movement by the patient

scapulothoracic rotation

Movements should be tested bilaterally and simultaneously wherever possible.

Look for impingement, which is the sign of fleeting interruption of free movement by Page 618
‘catching’ of a tendon upon bone.

1 Active movements

Flexion (anterior elevation) 180°

FIGURE 52.3 The attachments of the rotator cuff tendons to the head of the
Extension (posterior elevation) 50°
humerus
Source: Reproduced with permission from C Kenna and J Murtagh. Back Pain and Spinal Manipulation. Sydney: Butterworths, 1989
With the palm facing medially the patient moves the arm upwards through 180° to a vertical
position above the head and then backwards through this plane.
With tendon disorders (rotator cuff tendons or biceps) there is usually painful restriction of
movement in one direction, but with capsulitis and subacromial bursitis there is usually Abduction—180°
restriction in most directions.
Adduction—50° (from neutral position)
Inspection Abduction, which is initiated by the deltoid (first 15%), is possible only if the arm is fully
externally rotated. It is a key combined glenohumeral and scapulothoracic movement, which
should reach 180°, and these components should be differentiated if the movement is limited.
This is done by fixing the scapula with one hand, holding the scapula at its inferior angle and
noting the degree of movement of each component (initial glenohumeral range 85–100°). Look
for the presence of a painful arc, which occurs usually between 60° and 120° of abduction (see
FIG. 52.4 ).
FIGURE 52.4 The painful arc syndrome
The commonest cause is supraspinatus tendinopathy. Other causes include infraspinatus
tendinopathy and subacromial bursitis (milder degree).
Internal rotation—90°
External rotation—90°
These movements are tested with the arm by the side and the elbow flexed to 90° with the palm
facing medially. The hand is carried outwards to test external rotation and inwards towards the
abdomen for internal rotation.
2 Resisted movements3
Resisted movements (isometric contractions of a muscle) are important ways of testing capsulitis
and for pinpointing tenderness of muscle insertions around the shoulder joint, and no
examination of the shoulder is complete without them (see TABLE 52.4 ).
Abduction (supraspinatus test). With the arm abducted to no more than 15° the patient pushes the
elbow away from the side while the examiner’s hands resist and prevent the movement, holding
for 5 seconds. Compare both sides and note any reproduction of the patient’s pain.
A better and more specific test for supraspinatus impingement is testing resisted elevation in the
‘emptying the can’ position (90° of abduction, 30° horizontal flexion and full internal rotation).
Internal rotation (subscapularis test). The examiner stands behind the patient and grasps the
palmar surface of the patient’s wrists (with the arm by the side and elbow at 90°). The patient
attempts to move the forearm internally (medially) against resistance.
External rotation (infraspinatus test). With the examiner and patient adopting a similar position
to that for internal rotation, the examiner grasps the dorsal surface of the forearm near the wrist
and asks the patient to press outwards, using the forearm as a lever to produce external rotation.
This test is also positive for a C5 nerve root lesion.
3 Special tests
Supraspinatus/infraspinatus rapid differentiation test. A quick test that helps to differentiate
between a lesion of either of these tendons causing a painful arc syndrome is the ‘thumbs
up/thumbs down’ abduction test. To test the supraspinatus, perform abduction with thumbs
pointing upwards, and then with the thumbs pointing downwards to test the infraspinatus.
Long head of biceps test. The best test is opposed forward elevation of the arm with the elbow at
right angles and forearm supinated (Speed test). A positive test is reproduction of pain in the
bicipital groove. Another useful test is resisted supination at the wrist (Yergason test).
The brachial plexus tension test. This sequence of movements, devised by Elvey,7 tests the nerve
roots and sheaths of the brachial plexus without implicating the cervical spine and the
glenohumeral joint. The upper cervical roots of the plexus are sometimes injured in accidents, so
this test is an effective differentiation test.
Impingement test for supraspinatus lesions. See later in this chapter.
Page 619
Investigations
Shoulder pain occasionally benefits from appropriate investigations, including:
ESR (especially for polymyalgia rheumatica)/CRP
rheumatoid factor and anti-CCP
serum uric acid (acute pain)
ECG (if IHD suspected)
radiology:
X-ray of a specific part of the shoulder—AC joint, axillary view of glenohumeral joint
(best view to show osteoarthritis)
X-ray of cervical spine and chest (if relevant)
radionuclide bone scan—to assess bone tumours
 shoot-through axillary views (posterior dislocation)
high-resolution ultrasound—modern techniques make this an appropriate test to assess
shoulder pain due to rotator cuff lesions, especially tears and capsulitis, especially if
surgery is contemplated.
arthrogram of shoulder (beware of false negatives)
CT scan (limited use)
MRI—a useful imaging method but not routinely required except for the unstable joint
arthroscopy
Swimmer’s shoulder
Although it occurs in adults, shoulder pain is the most common complaint in swimmers in the
teenage years (over 12 years of age). American studies of college and national competition
swimmers showed 40–60% had suffered significant pain.8,9
Swimmer’s shoulder, which is a form of rotator cuff tendinopathy, is considered to be associated
with abnormal scapular positioning and cervicothoracic dysfunction and occurs in the
supraspinatus tendon where an avascular zone is compressed by the greater tuberosity when the
arm is abducted and relieved when adducted. Swimmers’ shoulders are forced through thousands
of revolutions each day, so the susceptible area tends to impinge on the coracoacromial arch,
leading to the impingement syndrome, which can progress with continued stress and age.10

Shoulder tip pain Management

Early recognition is important.
Pain at the shoulder tip may be caused by local musculoskeletal trauma or inflammation or can
be referred from blood or other irritants in the peritoneal cavity. Referred causes where the pain Discuss training program with coach.
is unchanged by shoulder movement include:
Consider alteration of technique.
peptic ulceration
Application of ICE after each swim.
diaphragmatic irritation (e.g. pneumonia)
Use NSAIDs.
ruptured viscus (e.g. perforated ulcer)
Avoid corticosteroid injections.
intraperitoneal bleeding (e.g. ruptured spleen)
Refer for physiotherapy for scapular stabilisation and cervicothoracic mobilisation.
pneumothorax/pneumonia

post laparoscopy (intraperitoneal gas) Shoulder pain in adults

myocardial infarction/pericarditis As a rule most of the shoulder problems increase with age. Special features in the elderly are:
ectopic pregnancy polymyalgia rheumatica (increased incidence with age)
gall bladder disease supraspinatus tears and persistent ‘tendinitis’

other rotator cuff disorders

Shoulder pain in children
stiff shoulder due to adhesive capsulitis
Shoulder pain in children is not a common presenting problem but the following require
consideration: osteoarthritis of AC and glenohumeral joints

septic arthritis/osteomyelitis cervical dysfunction with referred pain

swimmer’s shoulder (supraspinatus dysfunction) the avascular humeral head

Since the rotator cuff is prone to degeneration with age, there is a high incidence of rotator cuff
tears in the elderly that are mostly asymptomatic.
The avascular humeral head
The humeral head may become avascular after major proximal humeral fractures. With Page 620
experience, it is usually possible to predict the fractures at special risk. Early humeral head
replacement with a prosthesis can lead to excellent pain relief and to a return of good function.
Once the head has collapsed, there is secondary capsular contracture. Prosthetic replacement of
the head is then rarely associated with an adequate return of joint movement. Thus, early referral
of comminuted proximal humeral fractures for an expert opinion in all age groups is good
practice. Early replacement can improve the functional outcome.11
Rotator cuff tendinopathy6
Rotator cuff tendinopathy, also referred to as ‘the subacromial impingement syndrome’, is the
commonest cause of shoulder pain. It can be associated with inflammation (tendinitis), a tear in a
tendon (degeneration), calcification, amyloidosis or impingement under the acromion. It may
involve one tendon, usually the supraspinatus, or more of the rotator cuff tendons. It is most
frequently encountered in young people engaged in sport involving overhead activities and
people over 50 years, in whom rotator cuff tears occur most often. The diagnosis can usually be
made on the history and physical examination. A comparison between rotator cuff disease and
capsulitis is presented in TABLE 52.5 .
Supraspinatus tendinopathy can vary in intensity from mild to extremely severe. The severe
cases usually involve calcification (calcific periarthritis) of the tendon, which has a very rapid
onset, and spread to the subacromial bursa (subacromial bursitis).
The impingement tests5
These are effective tests for supraspinatus lesions as they force impingement of the rotator cuff
and bursa under the acromion. One of these tests is the ‘emptying the can’ resistance test. The
arm is placed in the ‘emptying the can’ position (90° of abduction, 30° of horizontal flexion and
full internal rotation). Elevation of the arm is resisted against the therapist’s downward push.
This also tests the strength of supraspinatus. It has a sensitivity of 90% and specificity of 54% for
supraspinatus tendinitis in blinded trials.13 Another is the ‘drop arm’ test, where the arm is
abducted to 90° and the patient asked to descend the arm slowly and in a controlled manner. A
positive result is sudden dropping with or without pain. Impingement can also be tested in
external rotation when the arm is abducted to 90° and externally rotated. Other tests include
those of Neer and Hawkins.6
Treatment12
Systematic reviews to date have a lack of sufficient information to provide conclusive evidence-
based recommendations for treatment.14 For analgesia, paracetamol taken orally is first line and
if inadequate, NSAIDs alone or in combination.12 Corticosteroid injections and physiotherapy
could improve range of movement. Experienced therapists believe that peritendon and
subacromial corticosteroid injections are efficacious in selected patients.

Table 52.5 Rest during the acute painful phase

Is it rotator cuff disease or capsulitis?11,12
Analgesics and NSAIDs (up to 4 weeks)
Rotator cuff disease Adhesive capsulitis
Peritendon or subacromial injection (if no tears on ultrasound)
Pain Often severe Often very severe
Night pain Night pain Physiotherapy—an active program including scapular stabilising exercises and rotator cuff
Inability to sleep on affected side Inability to sleep on affected strengthening
side
Surgery—consider after 3–6 months, usually subacromial decompression, sometimes excision
Onset Gradual or sudden Usually gradual of calcium
Rapid onset suggests calcific
tendinitis Injection technique
Movement Painful arc Marked by stiffness in all
directions An infiltration into the subacromial space is a simple procedure that, once learned, is usually
Aggravated by certain
straightforward. Approach laterally through the deltoid into the space beneath the acromion—if
movements
too high the bony acromion impedes the needle, so angle it lower. There should be no resistance
to depressing the plunger, which is almost painless.

Once the general injection is mastered, the ideal injection is a specific injection into the tendon.
Supraspinatus tendinopathy As a rule the therapeutic result is quite dramatic after one or two days of initial discomfort (often
severe). The tendon can be readily palpated as a tender cord anterolaterally as it emerges from
beneath the acromion to attach to the greater tuberosity of the humerus. This identification is 1. A very tight subacromial space. Consider referral for subacromial decompression by division
assisted by depressing the shoulder via a downward pull on the arm and then externally and of the thickened coracoacromial ligament. Even in younger patients this procedure (with or
internally rotating the humerus. This manoeuvre allows the examiner to locate the tendon readily. without acromioplasty) may be indicated for those with pain persisting beyond 12 months.

Page 621 2. Rotator cuff tear or degeneration. In middle-aged and elderly patients, persisting tendinitis is
Method usually due to rotator cuff tear and degeneration, an underdiagnosed condition. Surgery aims
to repair an early tear.
Identify and mark the tendon.
3. Calcification of the tendon. This problem usually settles but occasionally surgical intervention
Place the patient’s arm behind the back, with the back of the hand touching the far waistline. is necessary.
This locates the arm in the desired internal rotation and forces the humeral head anteriorly.
Typical pain profile—supraspinatus tendinopathy (subacromial
Insert a 23-gauge 32-mm needle under the acromion along the line of the tendon, and inject impingement)
around the tendon just under the acromion (see FIG. 52.5 ). If the gritty resistance of the
tendon is encountered, slightly withdraw the needle to ensure that it lies in the tendon sheath. Site: the shoulder and outer border of arm; maximal over deltoid
insertion
The recommended injection is 1 mL of a soluble or long-acting corticosteroid with 5 mL of
1% lignocaine. Radiation: to elbow
Quality: throbbing pain, can be severe
Frequency: constant, day and night
Duration: constant
Onset: gradual or sudden, such as straining the shoulder (e.g. dog on
leash, working under car, fall onto outstretched arm)
Offset: nil
Aggravation: specific movements, putting on shirt, toilet activity, lying on
shoulder (unable to sleep)
Relief: analgesics only
Associated trigger point over supraspinatus origin
features:
Examination painful resisted abduction
(typical painful arc
features):
positive impingement test
positive ‘emptying the can’ sign
FIGURE 52.5 Injection placement for supraspinatus tendinopathy. Green
Diagnosis: clinical, but high-resolution ultrasound if doubtful
needle: standard subacromial space. Grey needle: adjacent to subacromial
tendon insertion.

Persistent supraspinatus tendinopathy Other rotator cuff lesions

There are three factors to consider with this problem: all of them may potentially be referred for The patient may present with dominant signs of subscapularis or infraspinatus lesions, or a
surgery. combination of two or three tendinous lesions, including the supraspinatus. This problem could
be confused with milder adhesive capsulitis, hence the value of investigations such as ultrasound.
Management
A subacromial space injection of 1 mL of corticosteroid and 2–3 mL of 1% local anaesthetic,
using the posterior approach, generally achieves a good result for multiple affected rotator cuff
tendons with or without subacromial bursitis (aim for only one injection). Relative rest is
advisable.
Page 622
Method
With the patient sitting upright the large posterior gap between the medial acromial ridge and the
humeral head is identified by palpation from behind. The needle (23-gauge, 32 or 38 mm long) is
inserted into this gap just inferior to the acromion. The solution should flow into this space
without resistance.
Rotator cuff tears
Asymptomatic rotator cuff tears are common, being present in 4% of people <40 years old and in
more than 50% of those over 60 years, but a significant number will become symptomatic over
time.12 Explain to the patient that ‘the rotator cuff is worn not torn’, rather like the frayed heel of
a sock that may have a split in it. The defect can be palpable.
Diagnostic tip: 98% specificity for all three signs:15
supraspinatus weakness
weakness in external rotation
impingement (in external or internal rotation or both)
If two of these three tests are positive in a patient over 60, there is a 98% chance of a rotator cuff
tear. Refer for surgical repair.
Subacromial bursitis
Subacromial (subdeltoid) bursitis is the more severe association of rotator cuff pathology and
may require hospital admission for pain control. It is the only inflammatory disorder around the
shoulder joint where localised tenderness is a reliable sign.
Management
Strong analgesics (e.g. paracetamol and codeine)
Large local injection of 5–8 mL of local anaesthetic into and around the bursa just beneath the
acromion, followed immediately by 1 mL of corticosteroid (long-acting) into the focus of the
lesion
Adhesive capsulitis12
Adhesive capsulitis or idiopathic frozen shoulder is an acute inflammation affecting the
glenohumeral joint, which becomes fibrotic and contracted. It can arise spontaneously or post
injury and may be partial or global, which is the classic cause of the ‘frozen shoulder’.
Differential diagnoses include monoarticular rheumatoid arthritis, a crystal arthropathy such as
gout and septic arthritis. It is worse in diabetes. It is common and estimated to affect, to at least
some degree, 2–5% of the general population and 10–20% of those with diabetes.16 12% develop
bilaterally.
It generally occurs in three stages:16
1. ‘freezing, frozen and thawing’—an inflammatory painful phase of 2–9 months
2. a fibrotic contracted (frozen) phase of 4–12 months
3. partial or complete resolution (thawing) of 5–26 months
Treatment
Conservative management involving physiotherapy is best practice.
For analgesia choose between paracetamol, paracetamol with NSAIDs, and NSAIDs alone
(weigh the risk). For severe pain, oral corticosteroids rapidly alleviate pain, improve function and
may provide sustained benefit. A typical dose is prednisolone 30 mg (o) daily for 3 weeks, then
taper dose over next 2 weeks and cease.17
This problem, which can persist for at least 18–24 months (average time to restore motion is 30
months) and is usually self-limiting, can be treated with an intra-articular injection of
corticosteroid but it is often unsuccessful. One injection treatment for severe persistent pain is
arthrographic hydrodilatation of the glenohumeral joint with a large quantity of sterile normal
saline solution (to stretch the capsule) ± corticosteroid. This procedure should be performed
slowly to produce an audible ‘pop’ as fluid distends into the subacromial and subcoracoid
bursae. Another important treatment is severing adhesions under arthroscopic control. The rule
is: if very stiff (frozen) use arthroscopy; if more mobile use a distension procedure. Active
exercises are important to restore function. Fifty per cent of people with adhesive capsulitis do
not regain full normal movement if untreated.
Current evidence from systemic reviews indicates that both hydrodistension and intra-articular
injections are likely to be beneficial.12,18
Exercise in the acute phase can exacerbate pain but a gentle program is useful when it settles. If
stiffness persists, manipulation under anaesthesia and/or arthroscopic debridement of adhesions
may be helpful.21
Page 623
Typical pain profile—adhesive capsulitis
Usually affects people in their 40s, 50s and 60s. lesion.

Site: around the shoulder and outer border of arm

Radiation: to elbow
Quality: deep throbbing pain
Frequency: constant, day and night (severe cases)
Duration: constant
Onset: spontaneous, usually gradual, wakes the patient from sleep
Offset: nil
Aggravation: activity, dressing, combing hair, heat
Relief: analgesics only (partial relief)
Associated stiffness of arm, may be frozen
features:
Examination ‘frozen’ shoulder (some cases)
(typical various active and passive movements painful and
features): restricted, especially extension and at extremes of
movement FIGURE 52.6 Injection placement for bicipital tendinopathy
resisted movements pain-free (patient compensates with
scapulo-humeral movements) Rupture of the biceps tendon
Diagnosis: high-resolution ultrasound (plain X-ray normal) Rupture of the long head of biceps usually occurs in the older person. It may be spontaneous or
occur after lifting or falling on the outstretched hand. The patient usually feels a tearing or
snapping sensation in the shoulder. The shoulder may be painful and difficult to move. The
Bicipital tendinopathy upper arm looks bruised and a lump due to rolled-up belly of biceps is obvious on flexion of the
elbow. Active treatment is not usually indicated but surgical intervention is appropriate for
Bicipital tendinopathy is a lesion such as fraying or tearing of the long head of the biceps, which young, active people, especially those in power sports. Rupture of the distal tendon (short head)
causes pain in front of the shoulder. Important signs include pain on resisted flexion of the elbow attached to the radius may occur with heavy lifting or similar load. Bruising appears at the
joint and on resisted supination with the elbow flexed to 90° (Speed test) and forearm pronated elbow.
(Yergason test). A painful arc may be present when the intrascapular part is affected. Hence it is
often confused with one of the rotator cuff lesions. Sometimes it is possible to elicit local Polymyalgia rheumatica
tenderness by palpation along the course of the tendon in the bicipital groove. This is best done
when the arm is externally rotated. Most active shoulder movements, especially external rotation, It is very important not to misdiagnose polymyalgia rheumatica in the older person (over 50
bring on the pain. years) presenting with bilateral pain and stiffness in the shoulder girdle. It may or may not be
associated with hip girdle pain. Polymyalgia rheumatica sometimes follows an influenza-like
Bicipital tendinopathy usually follows chronic repetitive strains in young to middle-aged adults illness. The patients seem to complain bitterly about their pain and seem flat and miserable. In
(e.g. home decorating, weight training, tennis, swimming freestyle, cricket bowling and baseball the presence of a normal physical examination they are sometimes misdiagnosed as ‘rheumatics’
pitching). Two complications are complete rupture and subluxation of the tendon out of its or ‘fibrositis’.
groove.
Page 624
One treatment to consider is a corticosteroid and local anaesthetic injection at the site of maximal Typical pain profile—polymyalgia rheumatica
tenderness in the bicipital groove (see FIG. 52.6 ). As a rule it is best to refer a significant
 Site: shoulders and upper arms (see FIG. 52.7 ) clinical sign is painful restriction of external rotation, which is usually completely blocked.
Routine shoulder X-rays following trauma should always include the ‘axillary shoot-through’
Radiation: towards lower neck
view and then the diagnosis becomes obvious. Early diagnosis and management can prevent a
Quality: a deep, intense ache poor outcome and perhaps litigation.15,20
Frequency: daily
Duration: constant but easier in afternoon and evening Recurrent subluxation
Onset: wakes with pain at greatest intensity Recurrent anterior or inferior subluxations, or both, are probably more common than recurrent
Offset: nil dislocations, yet frequently are not diagnosed. Those who complain of attacks of sudden
weakness and even a ‘dead arm feeling’ lasting for a few minutes with overhead activities of the
Aggravating staying in bed, inactivity arm should be investigated for this condition.
factors:
Relieving activity (slight relief) The disorder is usually apparent on careful stress testing of the shoulder. Air-contrast CT
factors: arthrography is considered the best investigation. Surgery is usually curative while conservative
treatment often fails for younger patients.
Associated severe morning stiffness ‘in muscles’; malaise; ± weight loss, depression
features:
Diagnosis: greatly elevated ESR (can be normal)
Glenoid labrum injuries4,7
Treatment: corticosteroids give dramatic relief but long-term management can be problematic; regular review and
Thesupport is essential
glenoid labrum is the (refer
ring of fibrous tissue attached to the rim of the glenoid and provides
volume to the cavity and stability to the glenohumeral joint. Injuries to the labrum are divided
into superior labrum anterior to posterior (SLAP) or non-SLAP lesions and further into stable
and unstable lesions.

Tests to assess these injuries are the O’Brien, Crank and Speed tests (refer to various YouTube
videos).

Non-SLAP lesions include degenerative, flap and vertical labral tears as well as unstable lesions
such as the classic Bankart lesion, where the labrum and capsule is detached from the rim (see
CHAPTER 124) .

Shoulder instability5,17
Recurrent shoulder instability can be divided into three main types.

FIGURE 52.7 Polymyalgia rheumatica: typical area of pain around the
shoulder girdle
Posterior dislocation of the shoulder
This is a rare form of shoulder instability, which is often misdiagnosed. On first inspection there
may not be an obvious abnormality of the shoulder contour. Often sports-related, but consider
this condition if there is a history of electric shock or a tonic–clonic convulsion. The major
1. Those with a tendency to generalised laxity of multiple joints including the shoulder and
which tend to dislocate with minor injuries. Surgery is less effective and treatment is based on
improving muscular stability with physiotherapy rehabilitation.
2. Those following trauma, which includes avulsion of the anterior labrum (Bankart lesion).
Physiotherapy tends to be less effective and the patients often require surgical repair.
3. Those with chronic rotator cuff tendinopathy/impingement who develop subtle instability.
Refer first to a sports physician or physiotherapist for assessment and management, preferably
conservative initially.
The ‘apprehension’ test is useful to confirm the diagnosis of traumatic anterior Page 625
instability. In this test the patient lies supine while the arm is externally rotated with the elbow
flexed to 90°. The test is more reliable when the patient expresses apprehension that the shoulder
will ‘come out’, rather than pain.
Osteoarthritis of the glenohumeral joint
This is usually secondary to local trauma, long-standing rotator cuff lesions and multiple surgical
interventions. Shoulder movements are stiff and usually restricted in all directions. Plain X-rays
show typical osteoarthritic changes. Treatment includes basic analgesics and short courses of
NSAIDs plus exercises to improve mobility. Patients usually manage to cope with osteoarthritis
of the shoulder, but for severe pain and stiffness, arthroplasty or joint replacement should be
considered.
Acromioclavicular disorders
Osteoarthritis is usually traumatic, from a direct blow or fall onto the shoulder with an abducted
arm, or degenerative and is relatively common in builders, sportspeople (especially rowers) and
the elderly. Night pain is experienced when lying on the affected side. There is a full range of
movement but pain on full elevation. Point tenderness over the ACJ is typical of ACJ pathology.
The Bell–van Riet test is diagnostic. A key test for ACJ pain is the Paxinos sign, which is
positive when pain is elicited on compression of the joint by placing one hand on the back of the
acromion and one on the clavicle. It is treated with rest, support and analgesics. Follow the
Rockwood classification of ACJ injuries. Intra-articular injections of corticosteroids can be used
for resistant or severe cases. If these measures are ineffectual, pain may be relieved by excision
of the lateral end of the clavicle.
When to refer
Persisting night pain with shoulder joint stiffness
Persisting supraspinatus tendinopathy; consider possibility of rotator cuff tear or degeneration,
especially in the elderly
Persisting restriction of movement, such as restricted cross-body flexion (indicates capsular
constriction)
Persisting supraspinatus tendinopathy or other rotator cuff problem because decompression of
the subacromial space with division of the coracoacromial ligament ± acromioplasty gives
excellent results
Confirmed or suspected posterior dislocation of the shoulder—the most commonly missed
major joint dislocation
Confirmed or suspected recurrent subluxation or avascular humeral head
Children with shoulder joint instability
Swimmer’s shoulder refractory to changes in technique and training schedule
Severe osteoarthritis of the glenohumeral joint (which usually follows major trauma) for
consideration of prosthetic replacement
Severe osteoarthritis of the AC or glenohumeral joint
Practice tips
Consider dysfunction of the cervical spine, especially C4–5 and C5–6 levels, as a
cause of shoulder pain.
Tendinitis and bursitis are very refractory to treatment and tend to last for several
months. One well-placed injection of local anaesthetic and corticosteroid may give
rapid and lasting relief.
Test for supraspinatus disorders (including swimmer’s shoulder) with the
impingement tests, including the ‘emptying the can’ test.
An elderly person presenting with bilateral shoulder girdle pain has polymyalgia
rheumatica until proved otherwise. Relief from corticosteroids is dramatic.
Although bilateral, it may start as unilateral discomfort.
Most of the shoulder joint disorders become chronic or persist for at least 12
months, but eventually spontaneous resolution can be expected.
Dysfunction of the cervical spine can coexist with dysfunction of the shoulder
joints.
Correlation between clinical symptoms and the degree of tendon injury or failure is
not reliable.16
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Exercises for your shoulder
Polymyalgia rheumatica
Shoulder: frozen shoulder
Shoulder: tendinitis
Page 626

References
1 Sloane PD, Slatt LM, Baker RM. Essentials of Family Medicine. Baltimore: Williams &
Wilkins, 1988: 242.
2 Buchbinder R. Acute shoulder pain: an evidence based management approach. Course
Proceedings: Monash Update Course for GPs, November 2013.
3 Kenna C, Murtagh J. Back Pain and Spinal Manipulation (2nd edn). Oxford: Butterworth-
Heinemann, 1997: 109–33.
18 Buchbinder R et al. Arthrographic joint distension with saline and steroid improves
function and reduces pain in patients with painful stiff shoulder: results of a randomised,
double blind, placebo controlled trial. Ann Rheum Dis, 2004; 63(3): 302–9.
19 Page MJ et al. Manual therapy and exercise for adhesive capsulitis (frozen shoulder).
Cochrane Database Syst Rev, 2014; Issue 8: Art No. CD011275.
20 Sher JS et al. Abnormal findings on magnetic resonance images of asymptomatic
shoulders. J Bone Joint Surg Am, 1995; 77: 10–15.

4 Rathburn JB, Macnab I. The microvascular pattern of the rotator cuff. J Bone Joint Surg
Br, 1970; 52B: 540.

5 Murrell G. Shoulder dysfunction: how to treat. Australian Doctor, 17 December 2004: 23–
30.

6 Shanahan EM, Buchbinder R. The painful shoulder. Medicine Today, 2009; 11(9): 73–9.

7 Elvey R. The investigation of arm pain. In: Grieve GP, Modern Manual Therapy of the
Vertebral Column. London: Churchill Livingstone, 1986: 530–5.

8 McLean ID. Swimmers’ injuries. Aust Fam Physician, 1984; 13: 499–500.

9 Dominguez RH. Shoulder pain in swimmers. The Physician and Sports Medicine, 1980; 8:
36.

10 Young D, Murtagh J. Pitfalls in orthopaedics. Aust Fam Physician, 1989; 18: 645–8.

11 Hermans J et al. Does this patient with shoulder pain have rotator cuff disease?: The
Rational Clinical Examination systematic review. JAMA, 2013; 310(8): 837–47.

12 Limb conditions [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:

Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed October 2018.

13 Holtby R, Razmjou H. Validity of the supraspinatus test as a single clinical test in

diagnosing patients with rotator cuff pathology. Orthop Sports Phys Ther, 2004; 34(4):
194–200.

14 Barton S, ed. Clinical Evidence. London: BMJ Publishing Group, 2001: 850–63.

15 Murrell GAC, Walton JR. Diagnosis of rotator cuff tears. The Lancet, 2001; 357: 769–70.

16 Robinson CM et al. Frozen shoulder. J Bone Joint Surg Br, 2012; 94(1): 1–9.

17 Buchbinder R et al. Short course prednisolone for adhesive capsulitis (frozen shoulder or
stiff painful shoulder): a randomised, double blind, placebo controlled trial. Ann Rheum
Dis, 2004; 63(11): 1460–9.
 Page 627

53 Pain in the arm and hand

A pain in the hand is worth a look at the neck. By heck don’t forget the neck!

ORTHOPAEDIC SURGEON TO STUDENTS, 1965

Pain in the arm and hand is a common problem in general practice, tending to affect the middle
aged and elderly in particular.

Overview of causes of a painful arm and hand

Pain originating from the cervical spine and shoulder disorders can extend down the arm. While
pain from disorders of the shoulder joint (because of its C5 innervation) does not usually extend
below the elbow, radiculopathies originating in the cervical spine can transmit to distal parts of
the arm (see FIG. 53.4 , later in this chapter).

Important causes are illustrated in FIGURE 53.1 . Myocardial ischaemia must be considered,
especially for pain experienced down the inner left arm.

FIGURE 53.1 Important causes of arm pain (excluding trauma and arthritis)

Soft tissue disorders of the elbow are extremely common, especially tennis elbow. Two types of
tennis elbow are identifiable: ‘backhand’ tennis elbow, or lateral epicondylar tendinopathy, and
‘forehand’ tennis elbow, or medial epicondylar tendinopathy, which is known also as golfer’s or
pitcher’s elbow.

Other significant elbow disorders include inflammatory disorders of the elbow joint, such as
rheumatoid arthritis, osteoarthritis and olecranon bursitis, which may follow recurrent trauma,
gout, rheumatoid arthritis or infection.

Another important group of disorders are the various regional pain syndromes around the wrists,
including the common de Quervain tenosynovitis (affecting the tendons of extensor pollicis
brevis and abductor pollicis longus) and to a lesser extent the extensor tendons to the fingers.
Pain from these overuse syndromes can be referred in a retrograde manner into the forearm.
 reflex sympathetic dystrophy
A fascinating and poorly understood syndrome is that related to dysfunction of the upper four thoracic outlet syndrome
vertebral segments of the thoracic spine, which can cause referred pain in the arm that does not
arm claudication (left arm)
correspond to the dermatomes. This syndrome is often confused with the more common regional
pain disorders such as tenosynovitis and tennis elbow. Kienböck disorder

The various causes of the painful arm can be considered with the diagnostic strategy model (see Seven masquerades checklist
TABLE 53.1 ). Depression
Diabetes
Page 628
Spinal dysfunction
Table 53.1 Pain in the arm and hand: diagnostic strategy model Is the patient trying to tell me something?
Possibly, especially with the so-called RSI work-related syndromes.
Probability diagnosis
Dysfunction of the cervical spine (lower)
Disorders of the shoulder A diagnostic approach
Medial or lateral epicondylar tendinopathy
Overuse tendinitis of the wrist
Probability diagnosis
Carpal tunnel syndrome
Osteoarthritis of the thumb and DIP joints The commonest causes of arm pain are referred pain and radiculopathies caused by disorders of
the cervical spine, the tennis elbows (lateral and, to a lesser extent, medial epicondylar
Serious disorders not to be missed tendinopathy), carpal tunnel syndrome (CTS) and regional pain syndromes caused by
Cardiovascular: inflammation of the tendons around the wrist and thumb.
angina (referred)
Disorders of the shoulder, particularly supraspinatus tendinitis, should be considered if the pain
myocardial infarction
is present in the C5 dermatome distribution. Pain in the hand is commonly caused by
axillary vein thrombosis osteoarthritis of the carpometacarpal joint of the thumb and the distal interphalangeal (DIP)
Neoplasia: joints, and also by CTS.
Pancoast tumour
bone tumours (rare) Serious disorders not to be missed
Severe infections:
septic arthritis (shoulder/elbow) Like any other presenting problem, it is vital not to overlook malignant disease or severe
osteomyelitis infection. In the case of the arm, possible malignant disease includes tumours in bones,
lymphoma involving axillary glands and Pancoast tumour, which may cause severe arm pain
infections of tendon sheath and fascial spaces of hand
before any signs are evident.
sporotrichosis (gardener’s arm)
Neoplastic tumours of the hand are uncommon and usually benign. Benign tumours include giant
Pitfalls (often missed)
cell tumour of the tendon sheath, pigmented villonodular synovitis, neurilemmoma and
Entrapment neuropathies (e.g. median nerve, ulnar nerve) neurofibroma. Malignant tumours are exceptionally rare but can include synovioma and
Pulled elbow (children) rhabdomyosarcoma.
Foreign body (e.g. elbow)
In addition, myocardial ischaemia, especially infarction in the case of pain of sudden onset,
Rarities: should be considered for left arm pain.
polymyalgia rheumatica (for arm pain)
Sepsis can involve joints, the olecranon bursa and the deeper compartments of the hand, the
latter leading to serious sequelae if not rapidly diagnosed and treated.
Subclavian or axillary vein thrombosis, known as ‘effort thrombosis’, causes swelling in the arm
with pain high in the axilla. It is seen in people working constantly above their head, such as
painters and basketballers. It is an emergency requiring antithrombotic therapy.
Be aware of osteochondritis dissecans of the radius and capitellum in adolescents.
Pitfalls
These include entrapment syndromes for peripheral nerves—if in doubt refer for
electromyography. Variations of peripheral nerve entrapments include the pronator syndrome
(compression of the median nerve by the pronator teres or a fibrous band near the origin of the
deep flexor muscles) and ulnar nerve entrapment at the elbow in the cubital fossa and, rarely, in
the Guyon canal in the wrist.
Lesions of the nerve roots comprising the brachial plexus can also cause arm pain, especially in
the C5 and C6 distribution. These can be detected by the brachial plexus tension tests.
Rarer causes of arm pain
These include polymyalgia rheumatica, although the pain typically involves the shoulder girdle,
regional pain syndrome (Sudeck atrophy) and the thoracic outlet syndromes.
The thoracic outlet syndromes include problems arising from compression or Page 629
intermittent obstruction of the neurovascular bundle supplying the upper extremity, for
example, cervical rib syndrome, costoclavicular syndrome, scalenus anterior and medius
syndrome, ‘effort thrombosis’ of axillary and subclavian veins and the subclavian steal
syndrome.
The commonest cause of the thoracic outlet syndrome is sagging musculature related to ageing,
obesity, and heavy breasts and arms, aptly described by Swift and Nichols as ‘the droopy
shoulder syndrome’.1
Cervical ribs are relatively common and may or may not contribute to the thoracic outlet
syndrome. Often the cause is a functional change in the thoracic outlet due to the ‘droopy
shoulder syndrome’ with no significant anatomical fault.2
Arm claudication is also rare. It can occur with arterial obstruction due to occlusion of the
proximal left subclavian artery or the innominate artery. Exercise of the arm may be associated
with central nervous system symptoms as well as claudication.
Seven masquerades checklist
Of the seven primary masquerades, spinal dysfunction and depression are those most likely to be
associated with arm pain. Nerve root pain arising from entrapment in the intervertebral foramina
of the cervical spine or from a disc prolapse frequently leads to pain and/or paraesthesia in the
arm.
Although diabetic neuropathy primarily manifests in the lower limbs it may be associated with
neuropathies in the hands, including erythromelalgia (redness and burning related to heat).
Hypothyroidism may cause a CTS.
Psychogenic considerations
The hand can be regarded as a highly emotive ‘organ’ that is frequently used to give outward
expression to inner feelings. These can range from grossly disturbed psychiatric behaviour,
manifested as a hysterical conversion disorder by a non-functioning hand, to occupational
neuroses such as repetition strain injury (RSI) and malingering.3 Experienced occupational
physicians and surgeons3 find the hand and arm a source of functional disability most often as a
result of industrial injury.
The clinical approach
History
The painful arm represents a real diagnostic challenge, so the history is very relevant.
It is common for arm pain to cause sleep disturbances and three causes are cervical disorders,
CTS and the thoracic outlet syndrome. The working rule is:
thoracic outlet syndrome—patients cannot fall asleep
CTS—patients wake in the middle of the night
cervical spondylosis—wakes the patient with pain and stiffness that persists well into the day4
The history should include an analysis of the pain and a history of trauma, particularly
unaccustomed activity. In children evidence should be obtained about the nature of any injury,
especially pulling the child up by the arms or a fall on an outstretched hand, which can cause
potentially serious fractures around the elbow.
Examination
As part of the physical examination of the painful arm it may be necessary to examine a variety
of joints, including the cervical spine (CHAPTER 51 ), shoulder (CHAPTER 52 ), elbow, wrist
and the various joints of the hand. The arms should be inspected as a whole and it is very
important to have both arms free of clothing and compare both sides.
Elbow joint
Inspection (from anterior, lateral and posterior aspects). Hold elbow in an anatomical position to
measure the carrying angle of forearm—elbow fully extended, forearm supinated (palm facing heat, tenderness and swelling, especially over the radial aspect of the wrist.
forwards) normal 5–15° (greater in females). Note any swellings:
Movements. With elbow fixed at 90° and held into the waist:
olecranon bursitis (bursa over olecranon)
1. compare dorsiflexion and palmar flexion on both sides (normal range extension 70–80°
nodules: flexion 80–90°)

RA (subcutaneous border ulna) 2. compare ulnar deviation (normal to 45°) and radial deviation (20°)

gout 3. compare pronation and supination (normal to 90° for both)

SLE (rare) and rheumatic fever (very rare) Neurological examination

granulomas (e.g. sarcoidosis) Test sensation, motor power and reflexes where indicated.
Examine it from the back to assess the triangle made by the olecranon and epicondyle. Summary of tests for motor power:
Palpation. Perform with patient supine and elbow held in approximately 70° flexion. Palpate C5—test resisted movement deltoid
bony landmarks and soft tissue. Note especially any tenderness over lateral epicondyle (tennis
elbow) and medial epicondyle (golfer’s elbow). C6—test resisted movement biceps
Movement (test active and passive). Hinge joint: C7—test resisted movement triceps
extension—flexion (0° to 150°): C8—test resisted EPL and FDL
the arc for daily living is 30–130° T1—test resisted interossei
limitation of extension is an early sign of synovitis Sensory patterns are presented in FIGURE 51.4 (CHAPTER 51 ).
pronation—supination (rotation):
Investigations
occurs at radiohumeral joint
Pain in the arm and hand can be difficult to diagnose but the rule to follow is: ‘If in doubt, X-ray
test in two positions: 90° flexion (held to side of body) + at full extension and compare both sides’. This applies particularly to elbow injuries in children. The presence of
a foreign body in the hand or arm also requires consideration.
supination 85° plus
Investigations to consider include:
pronation 75° plus
blood film and WCC
Resisted movements Page 630
ESR
Painful resisted flexion at wrist = medial epicondylar tendinopathy
ECG
Painful resisted extension at wrist = lateral epicondylar tendinopathy
imaging
Wrist joint
plain X-rays, e.g. cervical spinal
Follow the usual rules: look, feel, move, test function, measure, look elsewhere and X-ray. Note
swellings or deformities, including the ‘anatomical snuff box’ and distal end of radius. Feel for ultrasound
 arthrograms (shoulder, elbow, wrist)
CT or MRI scanning
technetium bone scan
nerve conduction studies
electromyography
Note: Modern sophisticated ultrasound examination is becoming a useful diagnostic modality for
soft tissue disorders such as tendinopathy.
Arm pain in children
The main concerns with children are the effects of trauma, especially around the elbow.
Considerable awareness of potential problems and skilful management are required with
children’s elbow fractures. Foreign bodies in the arm also have to be considered.
Pulled elbow
This typically occurs in children under 8 years of age, usually at 2–5 years, when an adult applies
sudden traction to the child’s extended and pronated arm (see FIG. 53.2A ): the head of the
radius can be pulled distally through the annular radioulnar ligament (see FIG. 53.2B ).5
FIGURE 53.2 Pulled elbow: (a) mechanism of injury, (b) annular ligament
displaced over head of radius, (c) reduction by supination flexion method
Symptoms and signs
The crying child refuses to use the arm.
The arm is limp by the side or supported in the child’s lap.
The elbow is flexed slightly (further flexion will be strenuously resisted).
The forearm is pronated or held in mid-position.
The arm is tender around the elbow (without bruising or deformity).
Note: An X-ray is not usually necessary.
Treatment
Supination flexion method
1. Sit the child on the parent’s lap. Gain the child’s confidence.
2. The child faces the doctor with the parent holding the non-affected arm.
3. Place one hand around the child’s elbow to give support, pressing the thumb over the head of
the radius.
4. Using gentle traction, firmly and smoothly twist the forearm into full supination (see
FIG. 53.2C ) as you fully flex the elbow. A faint click or ‘pop’ (which will be painful) will be
heard. After a few minutes the child will settle and resume full pain-free movement. Warn
parents that recurrences are possible up to 6 years.
Hyperpronation flexion method
An alternative method after following steps 1–3 above is to fully pronate the forearm and then
flex the elbow.
Page 631
Alternative combination method
An easier method for the child is to very gently alternate pronation and supination through a
small arc as you flex the elbow.
Note: Spontaneous resolution can occur eventually. Place the arm in a sling if necessary. If you
cannot get the child’s cooperation, send them home in a ‘high’ sling.
Fractures and avulsion injuries around the elbow joint, which are a major problem in children,
are discussed in more detail in CHAPTER 124 .6
Arm pain in adults
Older people are more likely to be affected by problems such as referred pain, radiculopathy or
myelopathy from cervical spondylosis, tumours, polymyalgia rheumatica, entrapment
neuropathies such as CTS and ulnar nerve entrapment. The latter can be related to trauma, such
as Colles fractures. In addition the elderly are more prone to suffer from the thoracic outlet
syndrome as previously described under ‘Pitfalls’. Osteoarthritis of the hand and tenosynovitis,
such as trigger thumb or finger, are more common with advancing age.

Tennis elbow * RICE: rest, ice, compression, elevation

Tennis elbow is caused by overuse or overload of the muscles of the forearm, especially in the
middle aged. It is an overload injury caused by excessive strain on the extensor muscles of the
forearm resulting from wrist extension. Both lateral and medial tennis elbow tendinopathy are
generally self-limiting, but symptoms can persist for up to 2 years, or even much longer.
Signs
On examination the elbow looks normal, and flexion and extension are painless.
There are three important positive physical signs:

Lateral tennis elbow (lateral epicondylar tendinopathy) 1. localised tenderness to palpation over the anterior aspect of the lateral epicondyle

The patient who presents with this common and refractory problem is usually middle aged and 2. pain on passive stretching (see FIG. 53.3 ) and Page 632
only about one in 20 plays tennis. A typical clinical profile is presented in TABLE 53.2 .
3. pain on resisted extension (see FIG. 53.4) at the wrist with the elbow held in extension and
the forearm prone
Table 53.2 Lateral tennis elbow: typical clinical profile

Age 40–60 years

Occupation Carpenter, bricklayer, cleaner, gardener, dentist, violinist
Sport Tennis (only 5% of causes), squash
Symptoms Pain at outer elbow, referred down back of forearm
Rest pain and night pain (severe cases)
Pain in the elbow during gripping hand movements (e.g. turning
on taps, turning door handles, picking up objects with grasping FIGURE 53.3 Lateral tennis elbow test: reproducing pain on passive
action, carrying buckets, pouring tea, shaking hands) stretching at the wrist
Signs No visible swelling
Localised tenderness over lateral epicondyle, anteriorly
Pain on passive stretching wrist
Pain on resisted extension wrist and third finger
Normal elbow movement
Course 6 to 24 months (most self-limiting)
Management Basic:
rest from offending activity FIGURE 53.4 Lateral tennis elbow test: reproducing pain on resisted
RICE* and oral NSAIDs if acute extension of the wrist
exercises—stretching and strengthening
Management
Additional (if refractory):
corticosteroid/LA injection (max. two) Although there are myriad treatments, the cornerstones of therapy are rest from the offending
manipulation activity and exercises to strengthen the extensors of the wrist. The application of ice may help
surgery relieve discomfort of acute pain. Three systematic reviews have found little evidence for efficacy
of any one specific intervention but short-term use of NSAIDs and progressive strengthening and physiotherapist familiar with the program.
stretching exercises were better than placebo.7 A trial of oral NSAIDs or topical NSAID applied
Page 633
four times a day may be worthwhile.8

Exercises

Stretching and strengthening exercises for the forearm muscles represent the best management
for tennis elbow. Three options are presented.

1. The wringing exercise. Chronic tennis elbow can be cured by a simple wringing exercise using
a small hand towel.9
Method

Roll up the hand towel.

With the arm extended, grasp the towel with the affected side placed in neutral.

Then exert maximum wring pressure: first flexing the wrist for 10 seconds, then extending FIGURE 53.5 Lateral tennis elbow: the dumbbell exercise with the palm
the wrist for 10 seconds.
facing down
This is an isometric ‘hold’ contraction.

This exercise should be performed only twice a day, initially for 10 seconds in each
direction. After each week increase the time by 5 seconds in each twisting direction until 60
seconds is reached (week 11). This level is maintained indefinitely.

Note: Despite severe initial pain, the patient must persist, using as much force as possible.
Review at 6 weeks to check progress and method.

2. Weights exercise. The muscles are strengthened by the use of hand-held weights or dumbbells.
A suitable starting weight is 0.5 kg, building up gradually (increasing by 0.5 kg) to 5 kg,
depending on the patient.
Method

To perform this exercise the patient sits in a chair beside a table.

The arm is rested on the table so that the wrist extends over the edge.
FIGURE 53.6 Tennis elbow stretching exercise: the hand and wrist are
The weight is grasped with the palm facing downwards (see FIG. 53.5 ). rhythmically rotated inwards until the painful point is reduced

The weight is slowly raised and lowered by flexing and extending the wrist.
The flexion/extension wrist movement is repeated 10 times, with a rest for 1 minute, and the
program is repeated twice.
3. The pronating exercise.10 A suitable stretching exercise is to rhythmically rotate the hand and
wrist inwards with the elbow extended and the forearm pronated (see FIG. 53.6 ). Another
proven exercise program is that outlined by Nirschl11 and this can be provided by referral to a
Injection therapy
The injection of 1 mL of a long-acting corticosteroid and 1 mL of local anaesthetic should be
reserved for those severe cases when pain restricts simple daily activities, and not used initially
for those patients with only intermittent pain.
A Netherlands study showed that corticosteroid injections are the best short-term treatment for
tennis elbow. Over the longer term, physiotherapy offers better results than injection but is on a
par with a wait and see approach.12 through the same needle. Sepsis must be ruled out.

Surgery Overuse syndromes of forearm muscles8

Severe and refractory cases can be referred for surgery but this is rarely indicated and there is no
evidence to date on its efficacy. The usual procedure is the stripping of the common extensor
origin combined with debridement of any granulation tissue.3 Other treatments include glyceryl
trinitrate patches and autologous blood injections.
Medial tennis elbow (medial epicondylar tendinopathy)
In ‘forehand’ tennis elbow, or golfer’s elbow, the lesion is the common flexor tendon at the
medial epicondyle. The pain is felt on the inner side of the elbow and does not radiate far. The
main signs are localised tenderness to palpation and pain on resisted flexion of the wrist.
In tennis players it is caused by stroking the ball with a bent forearm action or using a lot of top
spin, rather than stroking the ball with the arm extended.
The treatment is similar to that for lateral epicondylar tendinopathy except that in a dumbbell
exercise program the palm must face upwards.
Pain is often experienced in the belly of a muscle, such as the flexors and extensors, following
unaccustomed use of the wrists and elbows. There is pain on contraction and stretching of the
muscles and tenderness on palpation. This problem can be limiting for a significant period. Early
treatment includes relative rest, ice packs, analgesics (paracetamol) and gradual return to activity.
Referral for physiotherapy to supervise rehabilitation is important.
Page 634
Carpal tunnel syndrome (CTS)
CTS is caused by entrapment of the median nerve in the carpal tunnel. Patients complain of ‘pins
and needles’ affecting the pulps of the thumb, and index, middle and half of the ring finger (see
FIG. 53.7 ). They usually notice these symptoms after, rather than during, rapid use of the
hands. They may also complain of pain, which may even radiate proximally as far as the
shoulder, from the volar aspect of the wrist. Causes or associations of CTS are presented in
TABLE 53.3 . It resolves spontaneously in about one-third of patients.

After-care and prevention (lateral and medial epicondylar

tendinopathies)
If related to tennis, sport should be resumed gradually. Using a good quality, lighter racket and
suitable grip size, start quietly with a warm-up period. Obtain advice on style, including smooth
stroke play and avoiding ‘wristy’ shots.11 It may be worthwhile to advise the use of a non-stretch
band or brace situated about 7.5 cm below the elbow.

Olecranon bursitis
Olecranon bursitis presents as a swelling localised to the bursa (which has a synovial membrane)
over the olecranon process. The condition may be caused by trauma, arthritic conditions
(rheumatoid arthritis and gout) or infection.

Traumatic bursitis may be caused by a direct injury to the elbow or by chronic friction and
pressure as occurs in miners (beat elbow), truck drivers or carpet layers. Acute olecranon bursitis
with redness and warmth can occur in rheumatoid arthritis, gout, pseudogout, haemorrhage and
infection (sepsis). Septic bursitis must be considered where the problem is acute or subacute in
onset, and hence aspiration of the bursa contents with appropriate laboratory examination is
necessary (smear, Gram stain, culture and crystal examination). Treatment depends on the cause.

Simple aspiration/injection technique

Chronic recurrent traumatic olecranon bursitis with a synovial effusion may require surgery but
most cases can resolve with partial aspiration of the fluid and then injection of corticosteroid
 Idiopathic
Acromegaly
Amyloidosis
Consider cervical nerve root pressure
Diabetes
Fibrosis
Granulomatous disorders (TB, etc.)
Hypothyroidism
Multiple myeloma
Occupational: repetitive work with flexed wrists
Paget disease
Pregnancy
Premenstrual oedema
Rheumatoid arthritis
Tophaceous gout
Trauma

The pathognomonic symptom

Patients complain of awakening from their sleep at night with ‘pins and needles’ affecting the
fingers. They get out of bed, shake their hands, the ‘pins and needles’ subside and they return to
sleep. In severe cases, the patient may awaken two or three times a night and go through the
same routine.

Work-related CTS
CTS is seen in many work situations requiring rapid finger and wrist motion under load, such as
meat workers and process workers. A type of flexor tenosynovitis develops and thus nerve
compression in the tight tunnel. It is advisable to arrange confirmatory investigations by nerve
conduction studies and electromyography for this work-induced overuse disorder. This testing is
also indicated where the diagnosis is uncertain or if the condition persists and numbness or
weakness develops.
FIGURE 53.7 Carpal tunnel syndrome (median nerve compression syndrome)
Diagnosis (simple clinical tests)

Table 53.3 Carpal tunnel syndrome: causes or In the physical examination a couple of simple tests can assist with confirming the diagnosis.
These are the Tinel test and Phalen test. However, they are ‘soft’ signs with a relatively low
associations
sensitivity and specificity.13
Tinel test Two point discrimination

Hold the wrist in a neutral or flexed position and tap over the median nerve at the flexor
surface of the wrist. This should be over the retinaculum just lateral to the palmaris longus
tendon (if present) and the tendons of flexor digitorum superficialis (see FIG. 53.8 ).
A positive Tinel sign produces a tingling sensation (usually without pain) in the distribution of
the median nerve.
Page 635
The test that has the highest specificity of all basic clinical tests is two point discrimination, but it
has low sensitivity for CTS.13
Treatment
The treatment is determined by the severity. For mild cases simple rest and splinting (particularly
at night) is sufficient. Carpal tunnel injection with 1 mL of corticosteroid is frequently of
diagnostic as well as therapeutic value (see FIG. 53.9 ). Ultrasound therapy has been used with
some success. Surgical release (flexor retinaculotomy) is necessary for patients with sensory or
motor deficits and those with recalcitrant CTS.

FIGURE 53.8 Carpal tunnel syndrome: Tinel sign

FIGURE 53.9 Injection technique for carpal tunnel syndrome: between the
Phalen test palmaris longus and ulnar artery

The patient approximates the dorsum of both hands, one to the other, with wrists maximally
flexed and fingers pointing downwards.
This position is held for 60 seconds.
A positive test reproduces tingling and numbness along the distribution of the median nerve.
Systematic evidence-based reviews indicate the benefit of short-term oral corticosteroids7 and
local corticosteroid injection (short-term). NSAIDs and wrist splinting, especially at night, may
provide pain relief.14 Avoid use of diuretics.
In reference to surgery, one review found similar clinical outcomes between open carpal tunnel
release and endoscopic release but the latter had more complications.7
 Trigger finger/thumb (flexor tenosynovitis)
In the fingers the common work-induced condition is stenosing flexor tenosynovitis, also known
as trigger thumb and finger. Trigger finger or thumb has a reported lifetime risk of 2.6% in the
population and is more common in the fifth and sixth decades of life.14 It is associated with type
1 diabetes, rheumatoid arthritis, gout, hypothyroidism and amyloidosis. It is caused by the same
mechanism as de Quervain stenosing tenosynovitis. In middle age these tendons, which are
rapidly and constantly being flexed and extended, can undergo attrition wear and tear, and
fibrillate and fragment; this causes swelling, oedema and painful inflammation and the formation
of a nodule on the tendon that triggers back and forth across the thick, sharp edge of the ‘pulley’
(of the fibrosseous tunnel in the finger) (see FIG. 53.10 ).
Page 636
adjacent to but not into the tendon or its nodular swelling (A1 pulley). The approach can be
proximal, distal or lateral to the nodule. Controlled trials report a success rate of up to 70%.14
Method
The patient sits facing the doctor with the palm of the affected hand facing upwards.
Draw 1 mL of long-acting corticosteroid solution into a syringe and attach a 25 gauge needle
for the injection.
Insert the needle at an angle distal to the nodule and direct it proximally within the tendon
sheath (see FIG. 53.11 ). This requires tension on the skin with free fingers.
By palpating the tendon sheath, you can (usually) feel when the fluid has entered the tendon
sheath.

Inject 0.5–1 mL of the solution, withdraw the needle and ask the patient to exercise the fingers
for 1 minute.

FIGURE 53.10 Trigger thumb

These patients may present with a finger locked in the palm of the hand; the finger can only be
extended passively (manually) with the other hand. It is easily diagnosed by triggering. If the FIGURE 53.11 Injection site for trigger finger
pulp of the finger is placed over the ‘pulley’, crepitus can be felt and tenderness elicited. The
thumb and fourth (ring) finger are commonly affected, at the level of the metacarpal head.
Postinjection
Treatment Improvement usually occurs after 48 hours and may be permanent. The injection can be repeated
after 3 weeks if the triggering is not completely relieved. If triggering recurs, surgery is
Oral NSAIDs (with care) may provide pain relief.14 Although surgery is simple and effective,
indicated. This involves division of the thickened tendon sheath only.
treatment by injection is often very successful. The injection is made under the tendon sheath
 Dupuytren contracture Pain during pinch grasping

Pain on thumb and wrist movement

Also referred to as ‘Viking disease’, this contracture, which causes discomfort and dysfunction
rather than pain, is fibrous hyperplasia of the palmar fascia leading to nodular formation and
Dull ache or severe pain (acute flare-up)
contracture over the fourth and fifth fingers in particular (see FIG. 53.12 ). It occurs in about
10% of males over 65 years. The cause is unknown, but there is an AD genetic predisposition. It Can be disabling with inability to use hand (e.g. writing)
is associated with smoking, alcoholism, liver cirrhosis, COPD, diabetes, epilepsy and heavy
manual labour. If the palmar nodule is growing rapidly, injection of corticosteroids or
Triad of diagnostic signs
collagenase (e.g. Xiaflex) into the cord or nodule may be beneficial, but collagenase carries a
risk of tendon rupture. Surgical intervention is indicated for a significant flexion deformity. Tenderness with possible crepitations on palpation over and just proximal to radial styloid

Firm tender localised swelling in area of radial styloid (may be mistaken for exostosis)

Positive Finkelstein sign (the pathognomonic test)

Finkelstein test

The patient folds the thumb into the palm with the fingers of the involved hand folded over the
thumb, thus making a fist.

Move (adduct) the wrist in an ulnar direction (towards the little finger) to stretch the involved
tendons as you stabilise the forearm with the other hand (see FIG. 53.13 ).

A positive test is indicated by reproduction of or increased pain.

FIGURE 53.12 Dupuytren contracture showing flexion contractures of the

fourth and fifth digits and a palmar cord

De Quervain tenosynovitis (washerwoman’s sprain)

At the wrist, a not uncommon, work-induced condition is de Quervain stenosing Page 637
tenosynovitis of the first dorsal extensor compartment tendons (extensor pollicis brevis and
abductor pollicis longus), which pass along the radial border of the wrist to the base of the
thumb. It is usually seen when the patient is required to engage in rapid, repetitious movements
of the thumb and the wrist, especially for the first time, and thus is common in assembly line FIGURE 53.13 Finkelstein test
workers, such as staple gun operators. It often occurs in pregnancy, particularly postpartum.
Treatment
Clinical features
Conservative management is preferred. Rest and avoid the causative stresses and strains on the
Typical age 40–50 years thumb abductors.
Pain at and proximal to wrist on radial border Refer to occupational and hand therapists for a custom-made splint that involves the thumb
 and immobilises the wrist. supinating to examine it and pronating to replace it.

Consider trial of oral or topical NSAIDs four times a day for 14–21 days. Treatment is rest from the provoking activity, splintage and tendon sheath injection with long-
acting corticosteroid in a manner similar to that described for de Quervain tenosynovitis.
Local long-acting corticosteroid injection can relieve and may even cure the problem but care
should be taken to inject the suspension within the tendon sheath rather than into the tendon.

Surgical release is required for recalcitrant cases.

Method of tendon sheath injection

Identify and mark the most tender site of the tendon and the line of the tendon. Identify and
avoid the radial artery.

Thoroughly cleanse the skin with an antiseptic such as povidone-iodine 10% solution.

Insert the tip of the needle (23 gauge) about 1 cm distal to the point of maximal tenderness
(see FIG. 53.14 ).

Advance the needle almost parallel to the skin along the line of the tendon. Page 638

Inject about 0.5 mL of the corticosteroid suspension within the tendon sheath. If the needle is
in the sheath very little resistance to the plunger should be felt, and the injection causes the
tendon sheath to billow out.

FIGURE 53.14 Tendon sheath injection

Tendinopathy
After excluding CTS, trigger thumb/finger, de Quervain tenosynovitis, rheumatoid and related
disease, tendinitis is uncommon in the hand.15 Tendinitis may occur in other extensor
compartments of the wrist and hand with unusual repetitive stressful actions, such as power drills
jamming, and in conveyor quality control where an object is picked up with the forearm prone,

Intersection syndrome16
Intersection syndrome is caused by a bursitis that develops at the site where the extensor pollicis
brevis and abductor pollicis longus tendons cross over the extensor carpi radialis tendons (see
FIG. 53.15 ). The bursitis is due to friction at the crossing point or due to tenosynovitis of the
extensor tendons. On palpation tenderness is found dorsally on the radial side with swelling and
crepitus. Treatment is based on relative rest, a trial of NSAIDs and an injection of local
anaesthetic and corticosteroid into the bursa.
FIGURE 53.15 Intersection syndrome: pain is present over the intersection of
tendons
Post-traumatic chronic wrist pain10
Patients often present with persistent wrist pain following trauma, such as a fracture, sprain to
the wrist or even a seemingly mild strain, such as falling down with the wrist flexed into the
hand. An undiagnosed fracture, ischaemic necrosis or unstable ligamentous injury including a
triangular fibrocartilage tear should be investigated by radiology or referral where appropriate.
Look for a scapholunate ligament tear (which causes wrist instability) with tenderness 2 cm
distal to the tubercle on the radial side of the lunate. For persistent tenderness an injection of
corticosteroid and local anaesthetic into the tender site is advisable.8 Imaging including MRI can
be helpful but if in doubt about the diagnosis refer to a hand and wrist surgeon.
Ulnar collateral ligaments injury (‘gamekeeper’s
thumb’)16
A special injury is gamekeeper’s thumb (also known as skier’s thumb) in which there is
ligamentous disruption of the metacarpophalangeal joint with or without an avulsion fracture at
the base of the proximal phalanx at the point of ligamentous attachment (Bennett fracture). This
injury is caused by the thumb being forced into abduction and hyperextension by the ski pole as
the skier pitches into the snow. Pinch grip is often affected.
Diagnosis is made by X-ray with stress views of the thumb. Incomplete tears are immobilised in
a scaphoid type of plaster for 3 weeks, while complete tears (Stener lesions) and avulsion
fractures should be referred for surgical repair.
Mallet finger
A mallet finger is a common sports injury caused by the ball (football, cricket ball or baseball)
unexpectedly hitting the fingertip and forcing the finger to flex. Such a forced hyperflexion
injury to the distal phalanx can rupture or avulse the extensor insertion into its dorsal base. The
characteristic swan-neck deformity (see FIG. 53.16 ) is due to retraction of the lateral bands and
hyperextension of the proximal interphalangeal joint.
FIGURE 53.16 Mallet finger with swan-neck deformity following rupture of the
extensor tendon to the distal phalanx
The 45° guideline
Without treatment, the eventual disability will be minimal if the extensor lag at the distal joint is
less than 45°; a greater lag will result in functional difficulty and cosmetic deformity.
Treatment
Maintain hyperextension of the distal interphalangeal joint for 6 weeks, leaving the proximal
interphalangeal joint free to flex. This can be managed with a mallet finger splint, or non-
stretched adhesive tape (see FIG. 53.17 ).
Page 639
 factors (a useful mnemonic is WBR, namely white → blue → red) (see FIG. 53.18 ). The rubor
is a reactive hyperaemia when fingers become red and tender. Associated symptoms are pain,
tingling and numbness. It is possible to get loss of tissue pulp at the ends of the fingers and
subsequent necrotic ulcers. The benign form is the commonest, but may indicate an evolving
connective tissue disorder. It is highly significant if it extends to the MCP joints (see
CHAPTER 21 ).

FIGURE 53.17 Mallet finger: position of finger after application of tapes

Ischaemic necrosis
Ischaemic necrosis, particularly of the scaphoid, can occur following failure to recognise a
fracture. Tenderness in the ‘anatomical snuff box’ following trauma should be treated as a
scaphoid until repeated X-rays prove negative. In children, chronic pain in the region of the
lunate suggests avascular necrosis—Kienböck disease, presenting with dorsal wrist pain (see
later in this chapter).

Ganglia14
About 60–70% of these common fluid-filled cysts occur on the dorsal aspect of the wrist FIGURE 53.18 Raynaud phenomenon: symptoms and colour changes of
overlying a joint or tendon sheath. The vast majority arise from the dorsal scapholunate ligament. fingers with cold
Pain can result from compression on an adjacent nerve or joint space. If diagnosis is uncertain,
an ultrasound scan (or even an MRI) may pinpoint the tumour, although neither is commonly Page 640
required. See CHAPTER 116 for treatment. Causes

Neurovascular disorders of the hand Primary

Raynaud syndrome (idiopathic)

Painful vascular disorders, which are more likely to occur in women in cold weather, include
Raynaud phenomenon, erythromelalgia, chilblains and acute blue finger syndrome. Acrocyanosis
is not a painful condition. Secondary

Occupational trauma (vibrating machinery)

Raynaud phenomenon
Connective tissue disorders (e.g. rheumatoid arthritis, SLE, systemic sclerosis, CREST,
The basic feature of Raynaud phenomenon, which is a vasospastic disorder, is sequential polyarteritis nodosa)
discolouration of the digits from pallor to cyanosis to rubor upon exposure to cold and other
Arterial disease (e.g. Buerger disease)
 Haematological disorders (e.g. polycythaemia, cold agglutinin disease, leukaemia) or

Drugs (e.g. beta blockers, sympathomimetic drugs with receptor activity, ergotamine, nasal nifedipine SR 30–60 mg (o) once daily
decongestants)
or
Aggravating factors
diltiazem SR 180–240 mg (o) once daily
Smoking
Erythromelalgia (erythermalgia)
Cold, wet weather
This condition is characterised by erythema (redness), a burning sensation and swelling of the
Stress or emotional upset hands (and feet) after exposure to heat and exercise. It may be primary or secondary to a disease
such as diabetes, haematological disorders17 (e.g. polycythaemia rubra vera) and connective
Differential diagnoses tissue disease. Treatment of primary erythromelalgia includes trials of aspirin,
phenoxybenzamine (Dibenyline), methysergide or sympathectomy.
Chilblains—itchy, patchy discolouration without pallor

Diffusely cold mottled hands—recover quickly on warming Acute blue finger syndrome in women
Investigations This unusual syndrome involves the sudden onset of pain and cyanosis of the ventral aspect of
the digit initially, and then the entire digit. It lasts 2–3 days and the attacks recur one or more
Exclude underlying causes with appropriate tests. times per year. No abnormalities are found on physical or on laboratory examination.

The cause is probably spontaneous rupture of a vein at the base of the finger.
Treatment14
In an attack, it is best to warm the extremities gradually. Chilblains (perniosis)
Total body protection from cold—wear layered clothing to prevent heat loss. Precautions
Use an electric blanket at night, as required. Think Raynaud phenomenon
Use mittens, fleece-lined gloves and thick woollen socks. Use warm long sleeves. Protect from trauma and secondary infection
Gloves or mittens should be worn when handling cold surfaces and objects, such as frozen Do not rub or massage injured tissues
food.
Do not apply heat or ice
Avoid smoking.

Consider sympathectomy. Treatment

Physical treatment
Vasodilators (during cold weather)14
Elevate affected part
topical glyceryl trinitrate 2% ointment—applied to the base of the affected fingers 2–4 times
daily or applied over the radial artery or dorsum of the hand Warm gradually to room temperature
or
Drug treatment
amlodipine 5–20 mg (o) once daily
 Apply glyceryl trinitrate vasodilator spray or ointment or patch (use plastic gloves and wash
hands for ointment)

Other treatment

Drink rum at night (traditional old wives’ tale!)

Nifedipine SR 30 mg daily

Regional pain syndrome

The hand can be affected by complex regional pain syndrome, previously called reflex Page 641
sympathetic dystrophy (RSD; also in this case Sudeck atrophy). The patient presents with severe
pain, swelling and disability of the hand. It may occur spontaneously or, more usually, it follows
trauma that may even be trivial. It can occur after a Colles fracture, especially with prolonged
immobilisation.

Clinical features
Throbbing, burning pain, worse at night

Paraesthesia

Initial: red, swollen hand; warm, dry skin

Later: cold, cyanosed and mottled, moist skin; shiny and stiff fingers

Wasting of small muscles

X-rays—patchy decalcification of bone (diagnostic)

The problem eventually settles but may take years. Patients need considerable support,
encouragement, basic pain relief, mobility in preference to rest and perhaps referral to a pain
clinic.

Kienböck disorder
Kienböck disease is avascular necrosis of the carpal lunate bone (see FIG. 53.19 ), which may FIGURE 53.19 Typical sites of arthritic conditions and osteochondritis in the
fragment and collapse, eventually leading to osteoarthritis of the wrist. hand

It presents usually in young adults over the age of 15 as insidious, progressive wrist pain and
stiffness that limits grip strength and hand function. Males are affected more often than females
and the right hand more than the left, indicating the relationship to trauma.

Arthritic conditions of the wrist and hand

Arthritis of the hand is an inappropriate diagnosis and specificity is required to highlight the
various joints that are the targets of the specific arthritides, which include osteoarthritis,
rheumatoid arthritis, spondyloarthropathies, gout, haemochromatosis and connective tissue
disorders. Typical target areas in the hand are shown in FIGURE 53.19 .
Osteoarthritis
Osteoarthritis commonly involves the interphalangeal joints of the fingers (especially the DIP
joints)18 and the carpometacarpal (CMC) joint of the thumb. Degenerative changes produce bony
swellings around the margins of the joints—Heberden nodes of the DIP joints and less
commonly Bouchard nodes of the PIP joints. A patchy distribution occurs in
metacarpophalangeal, intercarpal and wrist joints, usually related to trauma.
Osteoarthritis of the thumb
This is very common, especially in women. Pain is felt at the base of the thumb, and tenderness
on palpation of the CMC joint is typical. Functional limitation is progressive, with weakness of
the pinch grip and limited thumb excursion. Surgical correction may be required.
Rheumatoid arthritis
In rheumatoid arthritis, the DIP joints are often spared (only about 30% involved), but the
metacarpophalangeal and proximal interphalangeal joints and wrist joints are generally affected
symmetrically and bilaterally. Rheumatoid arthritis tends to affect the metacarpophalangeal
joints of the fourth finger less commonly.
Page 642
Gout
Gout may affect normal joints of the hand but is encountered more frequently in osteoarthritic
hand joints (especially DIP joints) in elderly people taking diuretics. This clinical feature is
known as nodular gout.
Seronegative arthropathies
A similar appearance to rheumatoid arthritis occurs, except that with psoriatic arthritis the
terminal joints are often affected by swelling, giving the appearance of ‘sausage digits’. (Refer
CHAPTERS 25 and 28 .)
Infections of the hand
Although not encountered as frequently as in the past, serious suppurative infections of the deep
fascial spaces of the hand and tendon sheath can still occur, especially with penetrating injuries
and web space infection.
Infections of the hand include:
infected wounds with superficial cellulitis or lymphangitis (Streptococcus pyogenes)
subcutaneous tissues—nail bed (paronychia), pulp (whitlow, e.g. herpes simplex)
erysipeloid—this is a specific infection in one finger of fishers or meat handlers, caused by
Erysipelothrix insidiosa. There is a purplish erythema that gradually extends over days. It is
rapidly cured by penicillin
tendon sheath infection (suppurative tenosynovitis)—this is a dangerous and painful infection
that can cause synovial adhesions with severe residual finger stiffness. The affected finger is
hot and swollen and looks like a sausage
‘aquarium’ or ‘swimming pool’ granuloma—non-painful infection of the tendon sheath due to
Mycobacterium marinum following a minor cut of the finger; doxycyclin or clarithromycin is
usually effective but refer to infectious disease physician
deep palmar fascial space infection—infection from an infected tendon sheath or web space
may spread to one of the two deep palmar spaces: the medial (midpalmar) space or lateral
(thenar) space
sporotrichosis (gardener’s arm)—a chronic fungal infection from contaminated spikes of wood
or rose thorns presenting as hard non-tender nodules in the skin of the hand and extending
along the lymphatics of the arm. The diagnosis is confirmed by biopsy. Treat with itraconazole
Management of serious infection
Early appropriate antibiotic treatment for infection and early surgical referral where necessary
Antibiotics (adult doses)
Streptococcus pyogenes (mild to moderate cellulitis, lymphangitis)
procaine penicillin 1.5 g IM daily, 3–7 days
or
phenoxymethylpenicillin 500 mg (o) 6 hourly for 10 days
If severe, to cover both S. pyogenes and Staphylococcus aureus infection (suspected or
proved)
flucloxacillin/dicloxacillin 2 g IV 6 hourly until improved, then oral for 10 days
‘Cracked’ hands and fingers
Wear protective work gloves: cotton-lined PVC gloves.
 Use soap substitutes (e.g. Cetaphil lotion, Dove).
Apply 2–5% salicylic acid and 10% liq picis carb in white soft paraffin ointment
or
corticosteroid ointment: class II–III
When to refer
Disabling osteoarthritis of carpometacarpal joint for possible surgical repair
Myelopathy (motor weakness) and persistent radiculopathy (nerve root pain and sensory
changes) in the arm
Unresolving nerve entrapment problems such as median and ulnar nerves
Elbow injuries in children with proven or possible supracondylar fracture or avulsion
epicondylar fractures
Evidence or suspicion of suppurative infection of the tendon sheaths or deep palmar fascial
spaces
Septic arthritis and osteomyelitis
Regional pain syndrome
Other conditions not responding to conservative measures
Page 643
Practice tips
With elbow injuries in children, X-ray both elbows and compare one side with the
other; this helps to determine whether there is displacement of fragments or a
disturbance in the normal anatomy of the elbow.
Tendinopathy and other entheseal problems of the arm are common and tend to
take 1–2 years to resolve spontaneously, yet they resolve rapidly with rest, an
exercise program or corticosteroid injections. Surgical relief is effective for
refractory cases.
The so-called thoracic outlet syndrome is probably most often caused by the
‘droopy shoulder syndrome’ rather than by a cervical rib.
Consider corticosteroid injections for CTS and stenosing tenosynovitis (de
Quervain and trigger finger or thumb). They are very effective and often curative.
The site of arthritis in the hand provides a reasonable guide as to the cause.
Always keep regional pain syndrome in mind for persistent burning pain in the
hand following injury—trivial or severe.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Carpal tunnel syndrome
Mallet finger
Olecranon bursitis
Tennis elbow
Trigger finger
References
1 Swift TR, Nichols FT. The droopy shoulder syndrome. Neurology, 1984; 34: 212–15.
2 Bertelsen S. Neurovascular compression syndromes of the neck and shoulder. Acta Chir
Scand, 1969; 135: 137–48.
3 Ireland D. The hand (part two). Aust Fam Physician, 1986; 15: 1502–13.
4 Dan NG. Entrapment syndromes. Med J Aust, 1976; 1: 28–31.
5 Krul M et al. Manipulative interventions for reducing pulled elbow in young children
(Review). Cochrane Database of Systematic Reviews, 2012; 1.
6 Young D, Murtagh J. Pitfalls in orthopaedics. Aust Fam Physician, 1989; 18: 645–53.
7 Barton S, ed. Clinical Evidence. London: BMJ Publishing Group, 2001: 717–27.
8 Limb conditions [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed October 2017.
9 White ADN. Practice tip: a simple cure for chronic tennis elbow. Aust Fam Physician,
1987; 16: 953.
10 Oakes B et al. Sports Injuries. Melbourne: Pitman, 1985: 51–5.
Ahmad Z et al. Lateral epicondylitis: a review of pathology and management. Bone Joint
11 J, 2013; 95-B(9):1158–64. Page 644

12 Smidt N et al. Corticosteroid injections, physiotherapy or a wait and see policy for lateral
epicondylitis: a randomised controlled trial. Lancet, 2002; 359: 657–62.

13 Kleopa RA. Carpal tunnel syndrome. Ann Internal Medicine, 2015; 163(5): ITCI.
54 Hip, buttock and groin pain
14 Skin and soft tissue infections [published 2019]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed October
2017.

15 Ireland D. The hand (part one). Aust Fam Physician, 1986; 15: 1162–71.
Which of your hips has the most profound sciatica?
16 Brukner P, Khan K. Brukner & Khan’s Clinical Sports Medicine (4th edn). Sydney:
McGraw-Hill, 2012: 429. WILLIAM SHAKESPEARE (1564–1616), MEASURE FOR MEASURE
17 Sheon R, Moskowitz R, Goldberg V. Soft Tissue Rheumatic Pain. Philadelphia: Lea & Pain in the hip, buttock, groin and upper thigh tends to be interrelated. The lay meaning of hip
Febiger, 1987: 134–40. (e.g. ‘wide hips’) is more expansive than the medical term (femoroacetabular joint), so ‘hip pain’
can describe pain in the buttock or lower back. Most pain in the buttock has a lumbosacral
18 Myers S, Della Torre P. Hand and wrist disorders (part 2): how to treat. Australian Doctor, origin. Pain originating from disorders of the lumbosacral spine (commonly) and the knee
11 March 2011: 32–4. (uncommonly) can be referred to the hip region, while pain from the hip joint (L3 innervation)
may be referred commonly to the thigh and the knee. Disorders of the abdomen, retroperitoneal
region and pelvis may cause hip and groin pain, sometimes mediated by irritation of the psoas
muscle.

Key facts and checkpoints

Hip troubles have a significant age relationship (see FIG. 54.1 ).

Children can suffer from a variety of serious disorders of the hip—such as

developmental dysplasia of the hip (DDH), Perthes disease, tuberculosis, septic
arthritis, slipped capital femoral epiphysis (SCFE) and inflammatory arthritis—all of
which demand early recognition and management.

SCFE typically presents in the obese adolescent (10–15 years) with knee pain and
a slight limp.

Every newborn infant should be tested for DDH, which can usually be treated
successfully when diagnosed early.

Limp has an inseparable relationship with painful hip and buttock conditions,
especially those of the hip.

The spine is the most likely cause of pain in the buttock in adults.

If a woman, especially one with many children, presents with bilateral buttock or hip
pain, consider dysfunction of the sacroiliac joints (SIJs) as the cause.
 If a middle-aged or elderly woman presents with hip pain, consider the osteoid osteoma
underdiagnosed conditions of trochanteric bursitis or gluteus medius tendinitis Septic infections:
(greater trochanteric pain syndrome). septic arthritis
osteomyelitis
tuberculosis
pelvic and abdominal infections: pelvic abscess, pelvic inflammatory disease,
prostatitis
synovial chondromatosis
Childhood disorders:
DDH
Perthes disease
slipped femoral epiphysis
transient synovitis (irritable hip)
juvenile chronic arthritis
Pitfalls (often missed)
Polymyalgia rheumatica
Fractures:
stress fractures femoral neck
FIGURE 54.1 Typical ages of presentation of hip disorders subcapital fractures
sacrum
pubic rami
A diagnostic approach Tear of hamstring
A summary of the diagnostic strategy model is presented in TABLE 54.1 . Avascular necrosis femoral head
Femoroacetabular impingement
Page 645 Torn acetabular labrum
Sacroiliac joint disorders
Table 54.1 Hip and buttock pain: diagnostic strategy model Inguinal or femoral hernia
Bursitis or tendinitis:
Probability diagnosis greater trochanteric pain syndrome
Traumatic muscular strains ischial bursitis
Referred pain from spine iliopsoas bursitis
Osteoarthritis of hip Osteitis pubis
Greater trochanteric pain syndrome Neurogenic claudication
Chilblains
Serious disorders not to be missed
Rarities:
Cardiovascular: haemarthrosis (e.g. haemophilia)
buttock claudication
Paget disease
Neoplasia: nerve entrapments: sciatica ‘hip pocket nerve’, obturator, lateral cutaneous
metastatic cancer
nerve of thigh
 Serious disorders not to be missed
Seven masquerades checklist
The major triad of serious disorders—cardiovascular, neoplasia and severe infections—are
Depression applicable to this area albeit limited in extent.
Spinal dysfunction
Page 646
Is the patient trying to tell me something?
Aortoiliac occlusion
Non-organic pain may be present. Patient with arthritis may be fearful of being
crippled. Ischaemic muscle pain, including buttock claudication secondary to aortoiliac arterial occlusion,
is sometimes confused with musculoskeletal pain. An audible bruit over the vessels following
exercise is one clue to diagnosis.
Probability diagnosis Neoplasia
The commonest cause of hip and buttock pain presenting in general practice is referred pain from
Primary tumours, including myeloma, lymphoma and sarcoma, can arise rarely in the upper
the lumbosacral spine and the sacroiliac joints.1 The pain is invariably referred to the outer femur and pelvis (especially the ileum). More commonly, these areas are targets for metastases,
buttock and posterior hip area (see FIG. 54.2 ). The origin of the pain can be the facet joints of especially from the prostate, breast and lung.
the lumbar spine, intervertebral disc disruption or, less commonly, the SIJs. Much of this pain is
inappropriately referred to as ‘lumbago’, ‘fibrositis’ and ‘rheumatism’.
Infection
Some very important, at times ‘occult’, infections can develop in and around the hip joint.

Osteomyelitis is prone to develop in the metaphysis of the upper end of the femur and must be
considered in the child with intense pain, a severe limp and fever. Tuberculosis may also present
in children (usually under 10 years) with a presentation similar to Perthes disease.

Transient synovitis or ‘irritable hip’ is the most common cause of hip pain and limp in
childhood.

Inflammation of the side wall of the pelvis as in a deep pelvic abscess (e.g. from appendicitis),
pelvic inflammatory disease (PID) including pyosalpinx, or an ischiorectal abscess, can cause
deep hip and groin pain and a limp. This pain may be related to irritation of the obturator nerve.

Retroperitoneal haematoma can cause referred pain and femoral nerve palsy.

Childhood disorders that must not be missed include:

DDH and acetabular dysplasia

FIGURE 54.2 Referral patterns of pain from the lumbosacral spine and the
sacroiliac joints Perthes disease
Trauma and overuse injuries from sporting activities are also common causes of muscular and SCFE
ligamentous strains2 around the buttock, hip and groin.
stress fractures of the femoral neck
The hip joint is a common target of osteoarthritis. This usually presents after 50 years of age but
can present earlier if the hip has been affected by another condition. Inflammatory disorders of the hip joint that should be kept in mind include:
 rheumatoid arthritis taxi drivers). It appears to be related to the increased presence of plastic credit cards in wallets
(see FIG. 54.3 ).
juvenile chronic arthritis (JCA)

rheumatic fever (a flitting polyarthritis)

spondyloarthropathy

Pitfalls
There are many pitfalls associated with hip and buttock pain and these include the various
childhood problems. Fractures can be a pitfall, especially subcapital fractures.

Red flag pointers to potentially serious hip conditions

Swelling, redness, very limited joint motion

Pain, fever, systemic features (in absence of trauma)

Neurological changes (e.g. loss of power)

FIGURE 54.3 ‘Hip pocket nerve’ syndrome: location and relations of sciatic
Rapid joint swelling after trauma nerve in the buttock

Constant localised pain unaffected by movement Paget disease can involve the upper end of the femur and the pelvis. Increased pain may indicate
a fracture or malignant change causing osteosarcoma.

SIJ disorders are often missed, whether it be the inflammation of sacroiliitis or mechanical
dysfunction of the joint.
Inflammatory conditions around the hip girdle are common and so are often misdiagnosed. These
include the common gluteus medius tendinitis and trochanteric bursitis (greater trochanteric pain
syndrome).
Polymyalgia rheumatica commonly causes shoulder girdle pain in the elderly but pain around the
hip girdle can accompany this important problem.
General pitfalls
Failure to test the hips of neonates carefully and follow up developmental dysplasia of the hip.
Misdiagnosis of arthritis and other disorders of the hip joint because of referred pain.
Overlooking an SCFE or a stress fracture of the femoral neck in teenage boys, especially
athletes. If an X-ray shows that the epiphysis is fusing or has fused, arrange a technetium bone
scan.

Chilblains around the upper thighs occur in cold climates and are often known as ‘jodhpur’
chilblains because they tend to occur during horse riding in very cold weather.
Nerve entrapment syndromes require consideration. Meralgia paraesthetica is a nerve entrapment
causing pain and paraesthesia over the lateral aspect of the hip (see FIG. 55.3 , CHAPTER 55 ).
An interesting modern phenomenon is the so-called ‘hip pocket nerve’ syndrome. If a man
presents with ‘sciatica’, especially confined to the buttock and upper posterior thigh (without
local back pain), consider the possibility of pressure on the sciatic nerve from a wallet in the hip
pocket. This problem is occasionally encountered in people sitting for long periods in cars (e.g.
Page 647
Seven masquerades checklist
The one outstanding masquerade is spinal dysfunction, which is the most likely cause of pain in
the buttock. Many dermatomes meet at the buttock and theoretically pain in the buttock can
result from any lesion situated in a tissue derived from L1, L2, L3, S2, S3 and S4.1 Symptoms
from L3 can spread from the outer buttock to the front of the thigh and down the leg, over the
medial aspect of the knee to the calf. Such a distribution is common to an L3 nerve root lesion
and arthritis of the hip.
Furthermore, dysfunction of the facet joints and sacroiliac joints can refer pain to the buttock. Do your movements feel free?
The relatively common L1 lesion due to dysfunction at the T12–L1 spinal level can lead to
referred pain over the outer upper quadrant of the buttock and also to the groin (see FIG. 54.2 ). Do you have a limp?

Do you have a similar ache around the shoulders?

Psychogenic considerations
Have you had an injury such as a fall?
Cyriax1 claims that the hip shares with the back and the shoulder ‘an enhanced liability to
fixation’ for psychological reasons. This problem is often related to work compensation factors Have you lost any weight recently?
or overpowering stresses at home. A common finding in psychoneurotic patients complaining of
buttock and thigh pain is 90° limitation of flexion at the hip joint. The importance of testing Do you have night pain?
passive movements of the hip joint is obvious, for often such limitation of flexion is combined
with a full range of rotation. In arthritis of the hip joint internal rotation is invariably affected Do you have trouble with shoes and socks?
first.
How far can you walk?
Such patients often walk into the office with a marked limp and leaning on a thick stick. It
requires great skill to evaluate and manage them tactfully and successfully. Is it painful to lie on the affected side at night?

On the other hand, patients with genuine osteoarthritis fear being crippled and ending in a Did you have a hip problem as a child?
wheelchair. They require considerable education and reassurance.
Does the pain respond to any treatments?

The clinical approach Examination

History Follow the traditional methods of examination of any joint: look, feel, move, measure, test
function, look elsewhere and X-ray. The patient should strip down to the underpants to allow
Pain associated with hip joint pathology is usually described as a deep aching pain, aggravated maximum exposure.
by movement and felt in the groin and anteromedial aspect of the upper thigh, sometimes
exclusively around the knee (see FIG. 55.1 in CHAPTER 55 ). A limp is a frequent association. Inspection

An obstetric history in a woman may be relevant for sacroiliac pain. Ask the patient to point exactly to the area of greatest discomfort. Careful observation of the
patient, especially walking, provides useful diagnostic information. Note any antalgic (painful)
Key questions gait. If walking with a limp, the leg adducted and foot somewhat externally rotated, osteoarthritis
of the hip joint is the likely diagnosis.
Can you tell me how the pain started?
If called to a patient who has suffered an injury such as a fall or vehicle accident, note Page 648

Could you describe the pain? the position of the leg. If shortened and externally rotated (see FIG. 54.4A ), a
fractured neck of femur is the provisional diagnosis; if internally rotated, suspect a posterior
Point to where the pain is exactly. dislocation of the hip (see FIG. 54.4B ). With anterior dislocation of the hip, the hip is externally
rotated.
Does the pain come on after walking for a while and stop as soon as you rest?

Is there any stiffness, especially first thing in the morning?

Do you have any difficulty climbing stairs?

Do you get any backache?

 Note: Osteoarthritis of the hip typically affects internal rotation (IR), extension and abduction
first.

Measurements
True leg length (ASIS to medial malleolus)

Apparent leg length (umbilicus to medial malleolus)

Note:

Unequal true leg length = hip disease on shorter side

Unequal apparent leg length = tilting of pelvis

Feel the height of the greater trochanter relative to the ASIS to determine if shortening is in the
FIGURE 54.4 (a) General configuration of the legs for a fractured neck of hip or below.
femur, (b) general configuration for a posterior dislocated hip
Test function including gait and special tests
Get the patient to lie supine on the couch with the anterior superior iliac spines (ASISs) of the
pelvis placed squarely and note the shape and position of the limbs. Look for muscle wasting. Gait:

Palpation
Feel one to two finger breadths below the midpoint of the inguinal ligament for joint tenderness.
Check for trochanteric bursitis, gluteus medius tendinitis and other soft tissue problems over the
most lateral bony aspect of the upper thigh.
Antalgic gait—shortened stance phase of affected leg, as patient doesn’t want to stand on it,
indicates pain with weight-bearing
Coxalgic gait—upper torso shifts towards painful side due to pain in the hip
Trendelenburg gait (the gluteus medius lurch)—similar to coxalgic but pelvis tilts

Movements
Passive movements with patient supine (normal range is indicated):
flexion with patient’s knees flexed (compare both sides): 0–125°
external rotation (knee and hip extended in adults): 0–45°
Femoroacetabular impingement (FAI):2,3
internal rotation (knee and hip extended in adults): 0–45°
abduction (stand on same side—steady pelvis): 0–45°
adduction (should see the patella of the opposite leg): 0–30°
In children it is most important to measure rotation and abduction/adduction with the knee and
hip flexed to detect early Perthes disease or SCFE.
Patient prone:
extension (one hand held over SIJ): 0–20°
Trendelenburg test—tests hip abductors (gluteus medius): the non-weight-bearing hemipelvis
drops if abnormal
Thomas test—tests for fixed flexion deformity
Squeeze test for osteitis pubis
This is abnormal contact between the anterior femoral head and the acetabular rim. More
common in sports men or women.
Two deformities: CAM (lump from extra bone) and pincer
Test—get the patient to hold the hip in 90° of flexion and maximal internal rotation. Then
bring the leg into adduction (FADIR test). Reproduction of pain is a positive test and indicates
intra-articular hip pathology such as labral tears and a cam or Ganz (bone outgrowth) lesion.
The FABER test (see later in this chapter) also tests for this pathology. FAI causes anterior
groin and trochanteric regional pain.
 Page 649 Perthes disease
Look elsewhere septic arthritis/osteomyelitis
Examine the lumbosacral spine, SIJs, groin and knee. Consider hernias and possibility of PID.
SCFE
Feel pulses and test for femoral bruits.
pathological fractures through bone cyst
Investigations
The important features of hip pain in children are summarised in TABLE 54.2 .
These can be selected from:

serological tests: RA factor, FBE, ESR, C-reactive protein Table 54.2 Comparison of important causes of hip pain in children

radiological:
Transient Septic
DDH Perthes SCFE
plain AP X-ray of pelvis showing both hip joints synovitis arthritis
Age 0–4 4–8 4–8 10–15 Any
lateral X-ray (‘frog’ lateral best in children) (years)

X-ray of lumbosacral spine and SIJs Limp + + + + Won’t walk

Pain - + + + +++
CT scan: hip joint, pelvis, lumbosacral spine
Limited Abduction All, Abduction All, All
MRI scan: stress fracture, early avascular necrosis, early osteomyelitis, labral tears of hip movement especially and IR especially
joint, metastases, soft tissue tumours abduction IR
and IR
isotope bone scan; useful for whole body bony metastases Plain X- No Normal Subchondral AP may Normal
ray diagnostic fracture be Use
needle aspiration of joint: if septic arthritis suspected value in normal
Dense head ultrasound
neonatal Pebble Frog
Role of ultrasound period (use stone lateral
ultrasound) view
Ultrasound diagnosis is now sensitive in children in detecting fluid in the hip joint, and can epiphysis
diagnose septic arthritis and also localise the site of an osteomyelitic abscess around a swollen US up to 6 shows
joint. It can accurately assess the neonatal hip joint and confirm the position of the femoral head months slip
in children <6 months. Ultrasound is used less since increased availability of MRI. then plain
X-ray

Hip pain in children

Hip disorders have an important place in childhood and may present with a limp when the child
is walking. These important disorders include: Developmental dysplasia of the hip
DDH In DDH, previously known as congenital dislocation of the hip, the underdeveloped femoral
head dislocates posteriorly and superiorly. DDH is described as transiently unstable or as a mild
congenital subluxation of hip and acetabular dysplasia subluxation (1 in 80 hips at birth, which stabilises in a few days) and frankly dislocated (1 in 800
hips).4 Risk factors include the ‘5 Fs’: female, first born, family history, foot abnormalities,
transient synovitis ‘funny’ delivery (breech or transverse), as well as oligohydramnios and caesarean section.
Clinical features
Females:males = 6:1

Asymmetry in 40%

Bilateral in one-third

Tight adductors and short leg evident

FIGURE 54.5 Screening for developmental dysplasia of the hip (left side): (a)
Diagnosed early by Ortolani and Barlow tests (abnormal thud or clunk on Page 650 Ortolani sign, (b) Barlow sign
abduction); test usually negative after 2 months

Ultrasound excellent (especially up to 6 months) and more sensitive than clinical examination Barlow test (OUT test: gentle clunk out of acetabulum)

X-ray difficult to interpret up to 3 months, then helpful As one hand stabilises the pelvis, grasp the knee of the relevant leg, then flex the hip to 90°,
abduct 10–20°.
Note:
With gentle but firm backward pressure, rock the femur backwards and forwards on the pelvis
1. When diagnosed and treated from birth it is possible to produce a normal joint after a few by pressing forward with the middle finger and backwards with the thumb. Note any jerk or
months in an abduction splint. clunk as hip ‘goes out’ of the acetabulum. If the femoral head displaces, there is dislocation.

2. Every baby should be examined for DDH during the first day of life then regularly and before Plain X-ray has little or no place in the diagnosis of DDH in the neonatal period.5 Ultrasound
discharge from hospital and at the 6-week check.4 The Ortolani and Barlow tests remain imaging is recommended. Early referral for treatment is essential. If not detected early the
important means of detecting an unstable or dislocated hip, but ultrasound is becoming more femoral head stays out of the acetabulum and after the age of 1 year the child may present with
important and is recommended for high-risk babies (e.g. breech, family history of DDH). delay in walking or a limp. The diagnosis is then detected by X-ray.

Screening examination Treatment (guidelines)

Carry out the examination on a large firm bench with the baby stripped. Relaxation is essential; DDH must be referred to a specialist4
give the baby a bottle if necessary. Be gentle and have warm hands.
0–6 months—Pavlik harness or abduction splint
With the legs extended, any asymmetry of the legs, especially any shortening, or skin creases is
noted. 3–18 months—reduction (closed or open) and cast (pelvic spica)

>18 months—open reduction and possible osteotomy

Ortolani test (IN test: gentle clunk into acetabulum)
Slings are not recommended.
Hold the leg in the hand with knee flexed—thumb over groin (lesser trochanter) and middle
finger over greater trochanter (see FIG. 54.5 ). Steady the pelvis with the other hand. Note: Despite early treatment some cases progress to acetabular dysplasia (underdevelopment of
the ‘roof’ of the hip joint) and to premature osteoarthritis. Thus a follow-up X-ray of the pelvis
Flex hips to about 90°, gently abduct to 45° (note any clunk [felt more than heard] or jerk as during teenage years should be considered for anyone with a history of DDH.
hip reduces).

Perthes disease
Perthes disease results in the femoral head becoming partly or totally avascular (i.e. avascular
necrosis).
Clinical features Blood tests and X-rays normal (may be soft tissue swelling); ESR may be mildly elevated

Males:females = 4:1 Ultrasound shows fluid in the joint

Usual age 4–8 years; range 2–12 years (rarely 13–18 years) Differential diagnosis. This includes septic arthritis, JCA, Perthes disease.

Sometimes bilateral Outcome. It settles to normal within 7 days, without sequelae.

Presents as a limp (antalgic or Trendelenburg gait) and aching (hip or groin pain) Treatment. Refer early. Treatment is bed rest or the use of crutches and analgesics. Follow-up X-
ray is needed in 4 to 6 months to exclude Perthes disease. Aspiration under general anaesthetic
May be knee pain may be needed to exclude septic arthritis.

‘Irritable’ hip early

Slipped capital femoral epiphysis
Limited movement in abduction and IR
One problem of the displaced capital epiphysis of the femoral head (SCFE) is when some
X-ray. Joint space appears increased and femoral head too lateral: typical changes of sclerosis, patients develop avascular necrosis despite expert treatment. Diagnosis of the condition before
deformity and collapse of the femoral capital epiphysis may be delayed. major slipping is important. This necessitates early consultation with the teenager experiencing
hip or knee discomfort and then accurate interpretation of X-rays.
Management
Clinical features
Refer urgently (provide crutches)
Adolescent 10–15 years, often obese
Aim is to keep femoral head from becoming flat
Most common in the ‘oversized and undersexed’ (e.g. the heavy prepubertal boy)
Choice of treatment depends on severity of the condition and age of the patient—
physiotherapy important Bilateral in 20%

If untreated, the femoral head usually becomes flat over some months, leading to Page 651
Limp and irritability of hip on movement
eventual osteoarthritis. Some untreated cases of Perthes disease heal and have a normal
Anterior hip (groin) pain
X-ray. Surgery, if needed, is osteotomy.
Knee pain
Transient synovitis
Hip rotating into external rotation on flexion and often lies in external rotation (ER)
This common condition is also known as ‘irritable hip’ or observation hip and is the consequence
of a self-limiting synovial inflammation. Most movements restricted, especially IR

Any adolescent with a limp or knee pain should have X-rays (AP and frog view) of both hips
Clinical features
(see FIG. 54.6 ). Otherwise, this important condition will be overlooked. SCFE is graded I to
Child aged 3–8 years (usually 6 years) IV. The femoral head is located posterior-inferior.

Sudden onset of hip pain and a limp

Child can usually walk but with pain (some may not)

May be history of trauma or recent URTI or viral illness

Painful limitation of movements, especially abduction and rotation

 Page 652

Avulsion bony injuries

Forceful contraction of muscles originating around the pelvis can lead to avulsion at their origin
in those with skeletal immaturity. This causes acute pain and muscular dysfunction:

anterior superior iliac spine (sartorius)

anterior inferior iliac spine (long head rectus femoris)

ischial tuberosity (hamstrings)

FIGURE 54.6 Appearance of a slipped capital femoral epiphysis; note that, in lesser trochanter (psoas)
the normal state, a line drawn along the superior surface of the femoral neck
passes through the femoral head, but passes above it with SCFE Management includes X-ray and referral. As a rule, surgical reattachment is not required.

Management The little athlete6

Cease weight-bearing and refer urgently to an orthopaedic surgeon. Also refer if the clinical The most common problem in the younger athlete is pain or discomfort in the region of the iliac
signs indicate SCFE but the X-rays look normal. crest or anterior or superior iliac spines, usually associated with traction apophysitis or with
acute avulsion fractures.7 There is localised tenderness with pain on stretching and athletes
If acute slip, gentle reduction via traction is better than manipulation in preventing later should rest until they can compete without discomfort.
avascular necrosis.
If there are persistent signs, pain in the knee, hip irritability or restricted range of motion, X-rays
Once reduced, pinning is performed. should be ordered to exclude serious problems such as SCFE or Perthes disease.

Septic arthritis Hip and buttock pain in adults

Septic arthritis of the hip should be suspected in all children with acutely painful or irritable hip
problems. These patients may not be obviously sick on presentation, particularly in infants <2 The following conditions are highly significant in the elderly:
years. A negative needle aspiration does not exclude septic arthritis. If sepsis is suspected it is
better to proceed to an arthrotomy if clinically indicated. osteoarthritis of the hip

The irritable hip syndrome should be diagnosed only after negative investigations, including aortoiliac arterial occlusion → vascular claudication
plain films and ultrasound, full blood examination, ESR and bone scan. Needle aspiration has to
be considered but irritable hip is often diagnosed without it, by observing in hospital in traction. spinal dysfunction with nerve root or referred pain
If a deterioration or elevated temperature develops, needle aspiration with or without arthrotomy
degenerative spondylosis of lumbosacral spine → neurogenic claudication
is indicated.
polymyalgia rheumatica
After micro and culture, treat with IV antibiotics.
trochanteric bursitis
Osteomyelitis
fractured neck of femur
The proximal femur is the most common site in children. It can be difficult to distinguish from
septic arthritis. A bone scan is useful but MRI is the most sensitive imaging. Refer to secondary tumours
CHAPTER 58 for treatment.
 Subcapital fractures Examination

The impacted subcapital fractured femoral neck can often permit weight-bearing by an elderly Antalgic gait
patient. No obvious deformity of the leg is present. Radiographs are therefore essential for the
Usually gluteal and quadriceps wasting
investigation of all painful hips in the elderly. Patients often give a story of two falls—the first5
very painful, the second with the hip just ‘giving way’ as the femoral head fell off. First hip movements lost are IR and extension
The displaced subcapital fracture has at least a 40% incidence of avascular necrosis and usually Fixed flexion deformity
requires prosthetic replacement in patients over 70 years. MRI scan is the investigation of choice
if the X-rays are normal. Intertrochanteric fractures are also common (see CHAPTER 124 ). Hip held in flexion and ER (at first)

Avascular necrosis Eventually all movements affected

The age of onset is usually 20–50 (average 38 years). Consider this with hip pain and deep groin Order of movement loss is IR, extension, abduction, adduction, flexion, ER
pain especially with IR in those at risk: corticosteroid use, SLE, sickle-cell disease, past hip
fracture or dislocation, pregnancy, alcoholic liver disease. Investigate with imaging (as above) Treatment
and refer.
Careful explanation: patients fear osteoarthritis of hip
Osteoarthritis of the hip Weight loss if overweight

Osteoarthritis of the hip is the most common form of hip disorder. It can be caused by primary Relative rest
osteoarthritis, which is related to an intrinsic disorder of articular cartilage, or to secondary
osteoarthritis. Predisposing factors to the latter include previous trauma, DDH, septic arthritis, Use crutches for acute pain Page 653
acetabular dysplasia, SCFE and past inflammatory arthritis.
Analgesics and NSAIDs (judicious use)
Clinical features
Aids and supports (e.g. walking stick)
Equal sex incidence
Physiotherapy
Usually after 50 years, increases with age
Physical therapy, including isometric exercises
May be bilateral: starts in one, other follows
Hydrotherapy—very useful
Insidious onset
Surgery
At first, pain worse with activity, relieved by rest, and then nocturnal pain and pain after
resting This is an excellent option for those with severe pain or disability unresponsive to conservative
measures. Total hip replacement is the treatment of choice in older people but a femoral
Stiffness, especially after rising osteotomy may be considered in younger people in selected cases. In selected patients in their
30s and 40s with severe disease, total hip replacement is being performed successfully. A type of
Characteristic deformity total hip replacement called hip resurfacing is becoming more popular in certain situations in
patients under 60 years of age; >90% achieve a good result. Most replacements last 15–20 years.
Stiffness, deformity and limp may dominate (pain mild)

Pain usually in groin—may be referred to medial aspect of thigh, buttock or knee Groin pain
All conditions involving the hip joint, especially osteoarthritis, can present with groin pain.
Consider an unrecognised fracture in neck of femur, psoas abscess, Paget disease, osteitis pubis e.g. walking, running, getting in and out of cars.
and hernias. Also consider hip labral or chondral lesions. Hip labral injuries present with inguinal
pain or upper anterior thigh pain, and require investigation and referral. There are no accompanying neurological symptoms such as paraesthesia or numbness but it is
common for more severe cases to cause a heavy aching feeling in the upper thigh.
Acute groin pain
Causes of SIJ disorders
Acute groin problems include muscular and musculotendinous strains, as well as common
overuse sporting injuries such as tendinopathy and tendoperiostitis. These need to be Inflammatory (the spondyloarthropathies)
differentiated from referred pain from the lumbosacral spine, hip and pelvis problems such as hip
labral injuries. More common acute groin injuries include injuries to the following muscles and Infections (e.g. TB, Staphylococcus aureus—rare)
their tendons: adductor longus (e.g. musculotendinous strains causing inner thigh pain), rectus
femoris, sartorius and iliopsoas. The relatively common adductor muscle or tendon injury results Osteitis condensans ilii
in upper thigh pain, local tenderness and resisted hip adduction. Ultrasound or MRI confirms the
Degenerative changes
diagnosis. Treatment is based on physiotherapy, exercises and possibly a corticosteroid injection.
Mechanical disorders
Chronic groin pain
Post-traumatic, after sacroiliac disruption or fracture
There are many causes of chronic groin pain, the commonest being bone and joint abnormalities.
Important causes involve muscle and musculotendinous lesions, including adductor longus Childbirth—in postnatal period
tendoperiostitis, osteitis pubis (pubic symphysis), iliopsoas bursitis, stress fractures (e.g. femoral
neck and pubic rami), ‘occult’ inguinal or femoral hernias and referred pain from Examination
musculoskeletal disorders of the lumbosacral spine and hip. Local pinpoint tenderness over the
symphysis is a feature of osteitis pubis. The SIJs are difficult to palpate and examine but there are several tests that provoke them.

Investigations include X-ray of the pelvis, tomography of the pubic symphysis (to detect osteitis
pubis and pubic instability), bone scan to detect stress fractures or osteitis pubis, herniography
and imaging such as CT scan, MRI (the most sensitive) or ultrasound.
Hip labral tears and FAI8,9,10
Direct pressure. With the patient lying prone a rhythmic springing force is applied Page 654
directly to the upper and lower sacrum respectively.
Winged compression test. With the patient lying supine and with arms crossed, ‘separate’ the
iliac crests with a downwards and outwards pressure. This compresses the SIJs.

Lateral compression test. With hands placed on the iliac crests, thumbs on the ASISs and heels
Acetabular labral tears are becoming better recognised in motor accident victims, dancers and
of hand on the rim of the pelvis, compress the pelvis medially. This distracts the SIJs.
athletes, especially with the use of MRI and hip arthroscopy. Patients may complain initially of
mild to moderate anterior groin and trochanteric regional pain. Then of sharp impingement pain Patrick or FABER test. The flexion, abduction, external rotation (FABER) method can provoke
in the hip and/or groin and of painful clicking, catching or locking. The impingement test should the hip as well as the SIJ. The patient lies supine on the table and the foot of the involved side
be performed (see earlier in chapter). X-rays will exclude bony hip pathology while MRI is the and extremity is placed on the opposite knee (the hip joint is now flexed, abducted and externally
radiological investigation of choice. Initial treatment is with analgesics and exercise modified rotated). The knee and opposite ASIS are pressed downwards simultaneously (see FIG. 54.7 ).
physiotherapy. According to Paoloni, examination after hip joint anaesthetic injection is the gold If low back or buttock pain is reproduced the cause is likely to be a disorder of the SIJ.
standard for diagnosing hip pathology.10 Refer for possible surgical treatment through hip
arthroscopy. However, there are no proven effective treatments for FAI and hip labral tears, so
any interventions should be approached cautiously.3

Sacroiliac pain
Pain arising from SIJ disorders is normally experienced as a dull ache in the buttock but can be
referred to the groin or posterior aspect of the thigh. It may mimic pain from the lumbosacral
spine or the hip joint. The pain may be unilateral or bilateral. It is worse in loading situations,

FIGURE 54.7 The Patrick (FABER) test for right-sided hip or sacroiliac joint
lesion, illustrating directions of pressure from the examiner
Unequal sacral ‘rise’ test. Squat behind the standing patient and place hands on top of the iliac
crests and thumbs on the posterior superior iliac spines (PSIS). Ask the patient to bend slowly
forwards and touch the floor. If one side moves higher relative to the other a problem may exist
in the SIJs (e.g. a hypomobile lesion in the painful side if that side’s PSIS moves higher).
Mechanical disorders of the SIJ
These problems are more common than appreciated and can be caused by hypomobile or
hypermobile problems.
Hypomobile SIJ disorders are usually encountered in young people after some traumatic event,
especially women following childbirth (notably multiple or difficult childbirth), or after a heavy
fall onto the buttocks, as well as in those with structural problems (e.g. shortened leg). Pain tends
to follow rotational stresses of the SIJ (e.g. tennis, dancing). Excellent results are obtained by
passive mobilisation or manipulation, such as the non-specific rotation technique with the patient
lying supine.12
Hypermobile SIJ disorders are sometimes seen in athletes with instability of the symphysis
pubis, in women after childbirth and in those with a history of severe trauma to the pelvis (e.g.
MVAs, horse riders with foot caught in the stirrups after a fall). The patient presents typically
with severe aching pain in the lower back, buttocks or upper thigh. Such problems are difficult to
treat and manual therapy usually exacerbates the symptoms. Treatment consists of relative rest,
analgesics and a sacroiliac supportive belt.
Greater trochanteric pain syndrome11
Pain around the lateral aspect of the hip is a common disorder, and is usually seen as lateral hip
pain radiating down the lateral aspect of the thigh in older people engaged in walking exercises,
tennis and similar activities. It is analogous in a way to the shoulder girdle, where supraspinatus
tendinitis and subacromial bursitis are common wear-and-tear injuries.
The cause is tendinopathy of the gluteus medius and/or minimus tendon (considered to be the
main pathology), where it inserts into the lateral surface of the greater trochanter of the femur
and/or gluteus minimus tendon with or without inflammation of the trochanteric bursa.
Weakness of these abductor muscles has been demonstrated. The degenerative tendon may tear,
rupture or become detached. The pain of this condition tends to occur at night, especially after
activity such as long walks and gardening. X-rays are usually normal but ultrasound may
demonstrate the pathology, while MRI can show the greatest detail.
Clinical features
Older person especially female >45–50 years
Pain on outside hip referred to as far as foot
Pain on lying on hip at night
Pain climbing stairs, getting in and out of car
Limp
Localised tenderness on outer border of thigh
Treatment12
Page 655
A trial of NSAIDs (weigh the risks) is worthwhile and physiotherapy involving hip-
strengthening exercises is first-line treatment. Injection therapy, including under ultrasound
guidance, is also very effective and facilitates exercises. However, it is usually a self-limiting
condition in the majority of patients.
Method of injection without ultrasound
Determine the points of maximal tenderness over the trochanteric region and mark them. (For
tendinopathy, this point is immediately over or above the superior aspect of the greater
trochanter—see FIG. 54.8 ).
Inject aliquots of a mixture of 1 mL of long-acting corticosteroid with 4–5 mL of local
anaesthetic into the tender area, which usually occupies an area similar to that of a standard
marble. The needle may be ‘fanned’ by repeatedly almost withdrawing then re-angling.
 Treatment
Infiltration into the tender spot of a mixture of 4 mL of 1% lignocaine and 1 mL of LA
corticosteroid (avoid the sciatic nerve)

Foam rubber cushion with two holes cut out for the ischial prominences

Snapping or clicking hip (coxa saltans)13

Some patients complain of a clunking, clicking or snapping hip, either palpable and/or audible.
This represents an annoying problem that may cause pain in the groin or thigh. It is more
common in females with a wide pelvis.

Causes
A taut iliotibial band (tendon or tensor fascia femoris) slipping backwards and forwards over
the prominence of the greater trochanter (most common) or

FIGURE 54.8 Injection technique for gluteus medius tendinopathy (into area The iliopsoas tendon snapping across the iliopectineal eminence at the anterior brim of the
of maximal tenderness) pelvis

The injection may be very effective for a variable time. Follow-up management includes The gluteus maximus sliding across the greater trochanter
sleeping with a small pillow under the involved buttock, sleeping on a sheepskin rug, and
stretching the gluteal muscles with knee–chest exercises, which are the key to relief.12 Advise the Joint laxity
patient to walk with the feet turned out—‘the Charlie Chaplin gait’. One or two repeat injections
FAI and/or hip labral tears
over 6 or 12 months may be required. Surgical intervention such as iliotibial band release ±
bursectomy may be necessary. Local application of ice and massage therapy may provide relief.
Massaging the site with fingers, a soft drink bottle or a tennis ball (while lying on the side) may Treatment
also be effective.
The basics of treatment are:

Fascia lata syndrome explanation and reassurance

Pain in the lateral thigh can be caused by inflammation of the fascia lata. It is often due to exercises to stretch the iliotibial band13
overuse or weak musculature around the hip. Treatment is relative rest and physiotherapy.
Occasionally surgery is necessary to lengthen the iliotibial band.
Ischial bursitis
Exercises
Tailor’s bottom or ‘weaver’s bottom’, which is occasionally seen, is a bursa overlying the ischial
tuberosity. Irritation of the sciatic nerve may coexist and the patient may appear to have sciatica. The patient lies on the ‘normal’ side and flexes the affected hip, with the leg straight Page 656
and a weight around the ankle (see FIG. 54.9 ), to a degree that produces a
stretching sensation along the lateral aspect of the thigh. Suitable for taut iliotibial band.
Clinical features
This iliotibial stretch should be performed for 1–2 minutes, twice daily.
Severe pain when sitting, especially on a hard chair

Tenderness at or just above the ischial tuberosity

 True hip pain is usually felt in the groin, medial thigh and medial aspect of the
knee.

The name of the FABER test is an acronym for Flexion, Abduction, External
Rotation of the hip.

Night pain adds up to inflammation, bursitis or tumour.

The hip joint can be the target of infections such as Staphylococcus aureus,
tuberculosis or inflammatory disorders such as rheumatoid and the
spondyloarthropathies, but these are rare numerically compared with
osteoarthritis.

Psoas-related pain is an important differential diagnosis of anterior hip pain.

FIGURE 54.9 One treatment for the clicking hip

Piriformis tendinopathy
Patient education resources
This syndrome is caused by pressure on the sciatic nerve due to its aberrant course through the
piriformis muscle. Symptoms include the gradual onset of deep-seated buttock pain, pain on and Hand-out sheets from Murtagh’s Patient Education 8th edition:
just after sitting, difficulty climbing stairs and sciatica-like symptoms centred on the buttocks.
There is buttock point tenderness and pain on resisted rotation of the hip. Treatment is based on Bursitis and tendinitis of outer hip
isometric stretching exercises under physiotherapist supervision.
Hip: osteoarthritis

When to refer
Resources
Clinical evidence or suspicion of severe childhood disorders: DDH, Perthes disease, septic
arthritis, SCFE or osteomyelitis Healthy Hips Australia: www.healthyhipsaustralia.org.au/.

Undiagnosed pain, especially night pain

References
Any fractures or suspicion of fractures such as impacted subcapital fracture or stress fracture
of the femoral neck 1 Cyriax J. Textbook of Orthopaedic Medicine, Vol. 1 (6th edn). London: Balliere Tindall,
1976: 568–94.
True claudication in the buttock, whether it is vascular from aortoiliac occlusion or neurogenic
from spinal canal stenosis 2 Wood T (Coordinator). Sports Medicine. Check Program 453. Melbourne: RACGP, 2009:
11–13.
Disabling osteoarthritis of the hip not responding to conservative measures; excellent results
are obtained from surgery to the hip 3 Limb conditions [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed October 2019.
Any mass or lump
4 Anonymous. The Eastern Seal Guide to Children’s Orthopaedics. Toronto: Eastern Seal
Society, 1982.
Practice tips
5 Robinson MJ. Practical Paediatrics (5th edn). Melbourne: Churchill Livingstone, 2003:
Training on a plastic DDH model may help practitioners master the manoeuvres 239–40.
for examining the neonatal hip.
 6 Larkins PA. The little athlete. Aust Fam Physician, 1991; 20: 973–8.
7 Young D, Murtagh J. Pitfalls in orthopaedics. Aust Fam Physician, 1989; 18: 654–5.
8 Wood TQ, Young DA. Labral tears: understanding the significance of rim lesions.
Medicine Today, 2008; 9: 71–5.
9 Wall PD et al. Surgery for treating hip impingement (femoroacetabular impingement).
Cochrane Database Syst Rev, 2014; Issue 8: Art No. CD010796.
10 Paoloni J. Hip and groin injuries in sport. Medical Observer, 9 March 2007: 27.
11 Walsh MJ, Solomon MJ. Trochanteric bursitis: misnomer and misdiagnosis. Medicine
Today, 2006; 7(12): 62–3.
12 Mellor R et al. Exercise and load modification versus corticosteroid injection versus ‘wait
and see’ for persistent gluteus medius/minimus tendinopathy (the LEAP trial): a protocol
for a randomised clinical trial. BMC Musculoskelet Disord, 2016; 17: 196.
13 Sheon RP, Moskowitz RW, Goldberg VM. Soft Tissue Rheumatic Pain (2nd edn).
Philadelphia: Lea & Febiger, 1987: 211–12.
Page 657
55 Pain in the leg
Thou cold sciatica
Cripple our senators, that their limbs may halt
As lamely as their manners.
WILLIAM SHAKESPEARE (1564–1616), TIMON OF ATHENS
Pain in the leg has many causes, varying from a simple cramp to an arterial occlusion. Overuse
of the legs in the athlete can lead to a multiplicity of painful leg syndromes, ranging from simple
sprains of soft tissue to compartment syndromes. A major cause of leg pain lies in the source of
the nervous network to the lower limb, namely the lumbar and sacral nerve roots of the spine. It
is important to recognise radicular pain, especially from L5 and S1 nerve roots, and also the
patterns of referred pain, such as from apophyseal (facet) joints and sacroiliac joints (SIJs).
Key facts and checkpoints
Always consider the lumbosacral spine, the SIJs and hip joints as important causes
of leg pain.
Hip joint disorders may refer pain around the knee only (without hip pain).
Nerve root lesions may cause pain in the lower leg and foot only (without back
pain).
Nerve entrapment is suggested by a radiating burning pain, prominent at night and
worse at rest.
Older people may present with claudication in the leg from spinal canal stenosis or
arterial obstruction or both.
Acute arterial occlusion to the lower limb requires relief within 4 hours (absolute
limit of 6 hours).
The commonest site of acute occlusion is the common femoral artery.
Varicose veins can cause aching pain in the leg.
 ‘Hip pocket nerve’: from wallet pressure
Iatrogenic: injection into nerve
A diagnostic approach Sacroiliac disorders
Sympathetic dystrophy (causalgia)
A summary of the diagnostic strategy model is presented in TABLE 55.1 . Peripheral neuropathy
Rarities:
Table 55.1 Pain in the leg: diagnostic strategy model osteoid osteoma
polymyalgia rheumatica (isolated)
Paget disease
Probability diagnosis
popliteal artery entrapment
Muscle cramps
tabes dorsalis
Nerve root ‘sciatica’
ruptured Baker cyst
Osteoarthritis (hip, knee)
Exercise-related pain (e.g. Achilles tendinitis), muscular injury (e.g. hamstring, Seven masquerades checklist
gastrocnemius, soleus) Depression
Serious disorders not to be missed Diabetes
Vascular: Drugs (indirect)
peripheral vascular disease Anaemia (indirect)
arterial occlusion (embolism) Spinal dysfunction
thrombosis popliteal aneurysm Is the patient trying to tell me something?
deep venous thrombosis Quite possible. Common with work-related injuries.
iliofemoral thrombophlebitis
Neoplasia: Page 658
primary (e.g. myeloma)
Probability diagnosis
metastases (e.g. breast to femur)
Infection: Many of the causes, such as foot problems, ankle injuries and muscle tears (e.g. hamstrings and
osteomyelitis quadriceps), are obvious and common. There is a wide range of disorders related to overuse
septic arthritis syndromes in athletes.
erysipelas A very common cause of acute severe leg pain is cramp in the calf musculature, the benign
lymphangitis nature of which escapes some patients as judged by middle-of-the-night calls.
gas gangrene
One of the commonest causes is nerve root pain, invariably single, especially affecting the L5
Pitfalls (often missed) and S1 nerve roots. Tests of their function and of the lumbosacral spine for evidence of disc
Osteoarthritis hip disruption or other spinal dysfunction will be necessary. Should multiple nerve roots be
Osgood–Schlatter disorder involved, other causes, such as compression from a tumour, should be considered. Remember
that a spontaneous retroperitoneal haemorrhage in a patient on anticoagulant therapy can cause
Spinal canal stenosis → neurogenic claudication nerve root pain and present as intense acute leg pain. The nerve root sensory distribution is
Herpes zoster (early) presented in FIGURE 55.1 .
Greater trochanteric pain syndrome
Nerve entrapment, e.g. meralgia paraesthetica
 Malignant disease, although uncommon, should be considered, especially if the patient has a
history of one of the primary tumours, such as breast, lung or kidney. Such tumours can
metastasise to the femur. Consider also osteogenic sarcoma and multiple myeloma, which are
usually seen in the upper half of the femur. The possibility of an osteoid osteoma should be
considered with pain in a bone relieved by aspirin.

Infections
Severe infections are not so common, but septic arthritis and osteomyelitis warrant consideration.
Superficial infections such as erysipelas and lymphangitis occur occasionally.

Vascular problems
Acute severe ischaemia can be due to thrombosis or embolism of the arteries of the lower limb.
Such occlusions cause severe pain in the limb and associated signs of severe ischaemia,
especially of the lower leg and foot.

Chronic ischaemia due to arterial occlusion can manifest as intermittent claudication or rest pain
in the foot due to small vessel disease.1

Various pain syndromes are presented in FIGURE 55.2 . It is important to differentiate vascular
claudication from neurogenic claudication (see TABLE 55.2 ).

FIGURE 55.1 Dermatomes of the lower limb, representing approximate

cutaneous distribution of the nerve roots

Other important causes of referred thigh pain include ischiogluteal bursitis (weaver’s bottom)
and gluteus medius tendinitis or trochanteric bursitis.

Serious disorders not to be missed

Neoplasia
 FIGURE 55.2 Arterial occlusion and related symptoms according to the level Diagnosis Radiological studies Duplex ultrasound
of obstruction confirmation EMG Ankle brachial index
Arteriography
Table 55.2 Comparison of the clinical features of neurogenic and vascular
claudication
Venous disorders
Neurogenic claudication Vascular claudication
The role of uncomplicated varicose veins as a cause of leg pain is controversial. Nevertheless,
Cause Spinal canal stenosis Aortoiliac arterial occlusive varicose veins can certainly cause a dull aching ‘heaviness’ and cramping, and can lead to
disease painful ulceration.
Age Over 50 Over 50
Superficial thrombophlebitis is usually obvious, but it is vital not to overlook deep venous
Long history of backache
thrombosis. These more serious conditions of the veins can cause pain in the thigh or calf.
Pain site and Proximal location, initially Distal location
radiation lumbar, buttocks and legs Page 659
Buttocks, thighs and calves
Radiates distally (especially) Pitfalls
Radiates proximally
There are many traps and pitfalls in the painful leg. Herpes zoster at the pre-eruption phase is an
old trap and more so when the patient develops only a few vesicles in obscure parts of the limbs.
Type of pain Weakness, burning, numbing or Cramping, aching, squeezing
tingling (not cramping) As the population ages we can expect to encounter more cases of spinal canal stenosis, secondary
Onset Walking (uphill and downhill) Walking a set distance each to the degenerative changes. The early diagnosis can be difficult, and buttock pain on walking
time, especially uphill has to be distinguished from vascular claudication due to a high arterial obstruction.
Distance walked varies
Prolonged standing The many disorders of the SIJ and hip region can be traps, especially the poorly diagnosed yet
common gluteus medius tendinitis. Another more recent phenomenon is the ‘hip pocket nerve
Relief Lying down Standing still—fast relief syndrome’, where a heavy wallet crammed with credit cards can cause pressure on the sciatic
Flexing spine (e.g. squat Slow walking decreases nerve.
position) severity
May take 20–30 minutes One of the biggest traps, however, is when hip disorders, particularly osteoarthritis, present as
leg pain, especially on the medial aspect of the knee.
Associations Bowel and bladder symptoms Impotence
Rarely, paraesthesia or Nerve entrapments (see FIG. 55.3 ) are an interesting cause of leg pain, although not as
weakness common as in the upper limb. Some entrapments to consider include:

Physical lateral cutaneous nerve of thigh, known as meralgia paraesthetica

examination
common peroneal nerve
Peripheral Present Present (usually)
pulses Aggravates Reduced or absent in some, posterior tibial nerve at ankle (the ‘tarsal tunnel’ syndrome)
Lumbar especially after exercise
extension No change obturator nerve, in obturator canal

Neurological Saddle distribution Note: abdominal bruits after femoral nerve (in inguinal region or pelvis)
Ankle jerk may be reduced exercise
after exercise
 Mistaking occlusive arterial disease for sciatica

Confusing nerve root syndromes with entrapment syndromes

Seven masquerades checklist

The outstanding cause of leg pain in this group is spinal dysfunction. Apart from nerve root
pressure due to a disc disruption or meralgia paraesthetica, pain can be referred from the
apophyseal (facet) joints. Such pain can be referred as far as the mid-calf (see FIG. 55.4 ).

FIGURE 55.3 Distribution of pain in the leg from entrapment of specific

nerves; the sites of entrapments are indicated by an X

Then there are the rare causes. One overlooked problem is complex regional pain syndrome I
(sympathetic dystrophy), which may follow even minor trauma to the limb. This ‘causalgia’
syndrome manifests as burning or aching pain with vasomotor instability in the limbs. The FIGURE 55.4 Possible referred pain patterns from dysfunction of an
essential feature is the disparity between the intensity of the pain and the severity of the inciting
apophyseal joint, illustrating pain radiation patterns from stimulation by
injury.
injection of the right L4–5 apophyseal joint
General pitfalls Source: Reproduced with permission from C Kenna and J Murtagh. Back Pain and Spinal Manipulation. Sydney: Butterworths, 1989

Overlooking beta blockers and anaemia as a precipitating factor for vascular claudication The other checklist conditions—depression, diabetes, drugs and anaemia—can be associated
with pain in the leg. Depression can reinforce any painful complex.
Overlooking hip disorders as a cause of knee pain Page 660
Diabetes can cause discomfort through a peripheral neuropathy that can initially cause localised
pain before anaesthesia predominates. Drugs such as beta blockers, and anaemia, can precipitate Yes: If immediate onset, consider local cause at site of pain (e.g. stress fracture). If delayed
or aggravate intermittent claudication in a patient with a compromised circulation. onset, consider vascular claudication or neurogenic claudication.

Is the site of pain the same as the site of trauma?

Psychogenic considerations
If not, the pain in the leg is referred. Important considerations include lesions in the spine,
Pain in the lower leg can be a frequent complaint (maybe a magnified one) of the patient with abdomen or hip and entrapment neuropathy.
non-organic pain, whether depressed, malingering or having a conversion reaction. Sometimes
regional pain syndrome (reflex or post-traumatic) is incorrectly diagnosed as functional. Is the pain arising from the bone?

The clinical approach If so, the patient will point to the specific site and indicate a ‘deep’ bone pain (consider
tumour, fracture or, rarely, infection) compared with the more superficial muscular or
fascial pain.
Careful attention to basic detail in the history and examination can point the way of the clinical
diagnosis. Is the pain arising from the joint?

History If so, the clinical examination will determine whether it arises from the joint or juxtaposed
tissue.
In the history it is important to consider several distinctive aspects, outlined by the following
Page 662
questions.
Examination
Is the pain of acute or chronic onset?
The first step is to watch the patient walk and assess the nature of any limp (see CHAPTER 28 ).
If acute, did it follow trauma or activity?
Note the posture of the back and examine the lumbar spine. Have both legs well exposed for the
If not, consider a vascular cause: vein or artery; occlusion or rupture. inspection.
Is the pain ‘mechanical’ (related to movement)? Page 661
Inspect the patient’s stance and note any asymmetry and other abnormalities, such as swellings,
bruising, discolouration or ulcers and rashes. Note the size and symmetry of the legs and the
If it is unaltered by movement of the leg or a change in posture, it must arise from a soft
venous pattern. Look for evidence of ischaemic changes, especially of the foot.
tissue lesion, not from bone or joints.
Palpate for local causes of pain and if no cause is evident examine the spine, blood vessels
Is the pain postural?
(arteries and veins) and bone. Areas to palpate specifically are the ischial tuberosity, trochanteric
Analyse the postural elements that make it better or worse. area, hamstrings and tendon insertions. Palpate the superficial lymph nodes. Note the
temperature of the feet and legs. Perform a vascular examination, including the peripheral pulses
If worse on sitting, consider a spinal cause (discogenic) or ischial bursitis. and the state of the veins if appropriate.

If worse on standing, consider a spinal cause (instability) or a local problem related to If evidence of peripheral vascular disease (PVD), remember to auscultate the abdomen and
weight-bearing (varicose veins). adductor hiatus, and the iliac, femoral and popliteal vessels.

If worse lying down, consider vascular origin, such as small vessel peripheral vascular A neurological examination may be appropriate, particularly to test nerve root lesions or
disease. If worse lying on one side, consider greater trochanteric pain syndrome. entrapment neuropathies. It is worthwhile developing a routine for rapidly assessing the motor
function of L5 (e.g. hallux dorsiflexion) and S1 (e.g. walking on tiptoes), as sciatica presents so
Pain unaffected by posture is activity-related. commonly.

Is the pain related to walking? Examination of the joints, especially the hip and SIJs, is very important.

No: Determine the offending activity (e.g. joint movement with arthritis).
Investigations So-called ‘growing pains’, or idiopathic leg pain, is thought to be responsible for up to 20% of
leg pain in children.2 Such a diagnosis is vague and often made when a specific cause is
A checklist of investigations that may be necessary to make the diagnosis is as follows: excluded. It is usually not due to ‘growth’ but related to excessive exercise or trauma from sport
and recreation, and probably emotional factors.
FBE and ESR
The pains are typically intermittent and symmetrical and deep in the legs, usually in the anterior
radiology: thighs or calves. Although they may occur at any time of the day or night, typically they occur at
night, usually when the child has settled in bed. The pains usually last for 30–60 minutes and
leg X-rays, especially knee, hip tend to respond to attention such as massage with an analgesic balm or simple analgesics (refer
to CHAPTER 84 ).
plain X-ray of lumbosacral spine

CT scan of lumbosacral spine Serious problems

ultrasound or MRI of greater trochanteric area It is important to exclude fractures (hence the value of X-rays if in doubt), malignancy (such as
osteogenic sarcoma, Ewing tumour or infiltration from leukaemia or lymphoma), osteoid
MRI scan of lumbosacral spine osteoma, osteomyelitis, scurvy and beriberi (rare disorders in developed countries) and
congenital disorders such as sickle-cell anaemia, Gaucher disease and Ehlers–Danlos syndrome.
bone scan

electromyography Leg pain in adults

vascular: The older the person, the more likely it is that arterial disease with intermittent claudication and
neurogenic claudication due to spinal canal stenosis will develop. Other important problems of
arteriography the elderly include degenerative joint disease, such as osteoarthritis of the hips and knees, muscle
cramps, herpes zoster, Paget disease, polymyalgia rheumatica (affecting the upper thighs) and
duplex ultrasound scan sciatica.
ankle brachial index
Spinal causes of leg pain
venous pool radionuclide scan
Problems originating from the spine are an important, yet at times complex, cause of pain in the
contrast venography leg.

air plethysmograph (varicose veins) Important causes are: Page 663

D-dimer test nerve root (radicular) pain from direct pressure

referred pain from:

Leg pain in children
disc pressure on tissues in front of the spinal cord
Aches and pains in the legs are a common complaint in children. The most common cause is
soreness and muscular strains due to trauma or unaccustomed exercise. A rare cause of bilateral apophyseal joints
leg pain in children is leukaemia. Consider osteomyelitis (see CHAPTER 58 ).
SIJs
It is important to consider child abuse, especially if bruising is noted on the back of the legs.
spinal canal stenosis causing claudication
‘Growing pains’ Various pain patterns are presented in FIGURES 55.3 and 55.4 .
 Nerve root pain of foot toes,
and anterolateral
Nerve root pain from a prolapsed disc is a common cause of leg pain. A knowledge of the great toe aspect of
dermatomes of the lower limb (see FIG. 55.1 ) provides a pointer to the involved nerve root, lower leg
which is usually L5 or S1 or both. The L5 root is invariably caused by an L4–5 disc prolapse and
the S1 root by an L5–S1 disc prolapse. The nerve root syndromes are summarised in
TABLE 55.3 .

Table 55.3 Comparison of neurological findings of the neurological levels L3, L4,
L5 and S17
S1 Buttock Lateral Plantar flexion of ankle Ankle jerk
Nerve Pain Sensory loss Motor function Reflex to back aspect of and toes, eversion of
root distribution of thigh ankle, foot foot
(see and leg, (4th and 5th
FIG. 55.1 ) central toes)
L3 Front of Anterior Extension of knee Knee jerk calf,
thigh, aspect of lateral
inner thigh aspect
aspect of ankle
of thigh, and sole
knee of foot
and leg

A summary of the physical examination findings for the most commonly involved nerve roots is
presented in TABLE 55.3 .

L4 Anterior Lower outer Flexion, adduction of Knee jerk Sciatica

thigh to aspect of knee, inversion of foot
front of thigh and See CHAPTER 28 . Sciatica is defined as pain in the distribution of the sciatic nerve or its
knee knee, inner branches (L4, L5, S1, S2, S3) caused by nerve pressure or irritation. Most problems are due to
great toe entrapment neuropathy of a nerve root, in either the spinal canal (as outlined above) or the
intervertebral foramen.

It should be noted that back pain may be absent and peripheral symptoms only will be present.

Treatment
A protracted course can be anticipated, in the order of 12 weeks (see CHAPTER 28 ). The
L5 Lateral Dorsum of Dorsiflexion of great toe Tibialis posterior patient should be reassured that spontaneous recovery can be expected. As for low back pain,
aspect foot, great and ankle (clinically systematic reviews of various interventions for sciatica (advice, or physical or medical therapy)
of leg, toe, 2nd, 3rd impractical) have failed to find any particular method that impresses. Bearing that in mind, a trial of
dorsum and 4th conservative treatment might involve the following:
 back care education
relative bed rest if very painful only (2 days is optimal)—a firm base is ideal
return to activities of daily living ASAP
analgesics (avoid narcotic analgesics if possible)
NSAIDs3 (mild global improvement; 2 weeks is reasonable)
basic exercise program, including swimming
some find traction helpful (even intermittent manual), although a Cochrane review suggests
otherwise.4
Referral to a therapist of your choice (e.g. physiotherapist) may be advisable. Conventional
spinal manipulation is usually contraindicated for radicular sciatica. If the sciatica is not
responding or the circumstances demand more active treatment, an epidural corticosteroid
injection has been shown to slightly reduce pain and disability in the short term.5 Surgical
consultation is indicated for a severe or progressive neurological deficit.
Lumbar spinal canal stenosis (LSS)6
LSS is narrowing of the spinal canal resulting in pressure on the sciatic nerve roots and possibly
the spinal canal and cord. It typically occurs in people aged over 50 years with a history of spinal
degenerative changes, including osteoarthritis (see FIG. 28.9 ), but LSS may be congenital.
The symptoms are as outlined for neurogenic claudication in TABLE 55.2 . Pain, which is
usually bilateral, is in the buttocks, thighs and legs—proximal radiating distally. Some 50%
remain clinically stable, 25% deteriorate and about 25% improve with time. Conservative
treatment includes relative rest, specific exercises, analgesics and agents for neuropathic pain.
There is no evidence of the value of epidural corticosteroid injections or oral corticosteroids.
Surgical consultation is indicated for severe or progressive neurological deficit or progressive
pain. The risk of surgical complications increases with age. The standard surgery is spinal
decompression.
Referred pain
Referred pain in the leg can arise from disorders of the SIJs or from spondylogenic disorders. It
is typically dull, heavy and diffuse. The patient often uses their hand to describe its distribution
compared with their use of fingers to point to radicular pain.
Spondylogenic pain
Non-radicular or spondylogenic pain originates from any of the components of the vertebrae
(spondyles), including joints, the intervertebral discs, ligaments and muscle attachments. An
important example is distal referred pain from disorders of the apophyseal joints, where the pain
can be referred to any part of the limb as far as the calf and ankle but most commonly to the
gluteal region and proximal thigh (see FIG. 55.4 ).
Another source of referred pain is that caused by compression of a bulging disc against Page 664
the posterior longitudinal ligament and dura. The pain is typically dull, deep and poorly Page 665
localised. The dura has no specific dermatomal localisation, so the pain is usually
experienced in the low back, sacroiliac area and buttocks. Less commonly, it can be referred to
the coccyx, groin and both legs down to the calves. It is not referred to the ankle or the foot.
Sacroiliac dysfunction
This typically causes a dull ache in the buttock, but it can be referred to the iliac fossa, groin or
posterior aspects of the thighs (see CHAPTER 54 ). It rarely radiates to or below the knee. It may
be caused by inflammation (sacroiliitis) or mechanical dysfunction. The latter must be
considered in a postpartum woman presenting with severe aching pain present in both buttocks
and thighs.
Nerve entrapment syndromes
Entrapment neuropathy can result from direct axonal compression or can be secondary to
vascular problems, but the main common factor is a nerve passing through a narrow rigid
compartment where movement or stretching of that nerve occurs under pressure.
Clinical features
Pain at rest (often worse at night)
Variable effect with activity
Sharp, burning pain
Radiating and retrograde pain
Clearly demarcated distribution of pain
Paraesthesia may be present
Tenderness over nerve
May be positive Tinel sign (tap posterior tibial nerve behind medial malleolus)
Meralgia paraesthetica
This is the commonest lower limb entrapment and is due to the lateral femoral cutaneous nerve
of the thigh being trapped under the lateral end of the inguinal ligament, 1 cm medial to the
ASIS.8 Shoe wedging or other orthotics to maintain eversion

The nerve is a sensory nerve from L2 and L3. It occurs mostly in middle-aged people, due Neurolysis is the most effective treatment
mainly to thickening of the fibrous tunnel beneath the inguinal ligament, and is associated with
obesity, pregnancy, ascites or local trauma such as belts, trusses and corsets. Its entrapment Tarsal tunnel syndrome
causes a burning pain with associated numbness and tingling (see FIG. 55.3 ).
This is an entrapment neuropathy of the posterior tibial nerve in the tarsal tunnel beneath the
The distribution of pain is confined to a localised area of the lateral thigh and does not cross the flexor retinaculum on the medial side of the ankle. The condition is due to dislocation or fracture
midline of the thigh. around the ankle or tenosynovitis of tendons in the tunnel from injury, or rheumatoid arthritis
and other inflammations.
Differential diagnosis
Symptoms and signs
L2 or L3 nerve root pain (L2 causes buttock pain also)
A burning or tingling pain in the toes and sole of the foot, occasionally the heel
Femoral neuropathy (extends medial to midline)
Retrograde radiation to the calf, perhaps as high as the buttock
Treatment
Numbness is a late symptom Page 666
Injection of corticosteroid medial to the ASIS, under the inguinal ligament
Discomfort often in bed at night and worse after standing
Surgical release (neurolysis) if refractory
Removal of shoe may give relief
Treat the cause (e.g. weight reduction, constricting belt, corset)
Sensory nerve loss variable, may be no loss
Note: Meralgia paraesthetica often resolves spontaneously.
Tinel test (finger or reflex hammer tap over nerve below and behind medial malleolus) may be
Peroneal nerve entrapment positive

The common peroneal (lateral popliteal) nerve can be entrapped where it winds around the neck Tourniquet applied above ankle may reproduce symptoms
of the fibula or as it divides and passes through the origin of the peroneus longus muscle 2.5 cm
The diagnosis is confirmed by electrodiagnosis.
below the neck of the fibula. It is usually injured, however, by trauma or pressure at the neck of
the fibula.
Treatment
Symptoms and signs Relief of abnormal foot posture with orthotics
Pain in the lateral shin area and dorsum of the foot Corticosteroid injection into tunnel
Sensory symptoms in the same area Decompression surgery if other measures fail
Weakness of eversion and dorsiflexion of the foot (described by patients as ‘a weak ankle’)
Vascular causes of leg pain
Differential diagnosis
Occlusive arterial disease
L5 nerve root (similar symptoms)
Risk factors for peripheral vascular disease (for development and deterioration):
Treatment
smoking
 diabetes

hypertension

hypercholesterolaemia

family history

atrial fibrillation (embolism)

Aggravating factors:

beta-blocking drugs

anaemia

Acute lower limb ischaemia

Sudden occlusion is a dramatic event that requires immediate diagnosis and management to save
the limb.

Causes
Embolism—peripheral arteries

Thrombosis: major artery, popliteal aneurysm

Traumatic contusion (e.g. postarterial puncture)

The symptoms and signs of acute embolism and thrombosis are similar, although thrombosis of
an area of atherosclerosis is often preceded by symptoms of chronic disease (e.g. claudication).
The commonest site of acute occlusion is the common femoral artery (see FIG. 55.5 ).
FIGURE 55.5 Common sites of acute arterial occlusion

Signs and symptoms—the 6 Ps

Pain

Pallor

Paraesthesia or numbness

Pulselessness

Paralysis

‘Perishing’ cold
The pain is usually sudden and severe and any improvement may be misleading. Sensory
changes initially affect light touch, not pinprick. Paralysis (paresis or weakness) and muscle
compartment pain or tenderness are most important and ominous signs.

Other signs include mottling of the legs, collapsed superficial veins and no capillary return. If the
foot becomes dusky purple and fails to blanch on pressure, irreversible necrosis has occurred.

Note: Look for evidence of atrial fibrillation.

Examination of arterial circulation

This applies to chronic ischaemia and also to acute ischaemia.

Page 667
Skin and trophic changes

Note colour changes, hair distribution and wasting. Note the temperature of the legs and feet
with the backs of your fingers.

Palpation of pulses

It is important to assess four pulses carefully (see FIG. 55.6 ). Note that the popliteal and
posterior tibial pulses are difficult to feel, especially in obese subjects.

FIGURE 55.6 Sites of palpation of peripheral pulses in the leg

Femoral artery. Palpate deeply just below the inguinal ligament, midway between the ASIS and
the symphysis pubis. If absent or diminished, palpate over abdomen for aortic aneurysm.

Popliteal artery. Flex the leg to relax the hamstrings. Place fingertips of both hands to meet in
the midline. Press them deeply into the popliteal fossa to compress artery against the upper end
of the tibia (i.e. just below the level of the knee crease). Check for a popliteal aneurysm (very
prominent popliteal pulsation).

Posterior tibial artery. Palpate, with curved fingers, just behind and below the tip of the medial
malleolus of the ankle.

Dorsalis pedis artery. Feel at the proximal end of the first metatarsal space just lateral to the
extensor tendon of the big toe.

Oedema

Look for evidence of oedema: pitting oedema is tested by pressing firmly with your thumb for at
least 5 seconds over the dorsum of each foot, behind each medial malleolus and over the shins.

Postural colour changes (Buerger test)

Raise both legs to about 60° for about 1 minute, when maximal pallor of the feet will develop.
Then get the patient to sit up on the couch and hang both legs down.8
Note: Comparing both feet, check the time required for return of pinkness to the skin (normally
less than 10 seconds) and filling of the veins of the feet and ankles (normally about 15 seconds).
Look for any unusual rubor (dusky redness) that takes a minute or more in the dependent foot. A
positive Buerger test is pallor on elevation and rubor on dependency and indicates severe,
chronic ischaemia.
Chronic lower limb ischaemia
Chronic ischaemia caused by gradual arterial occlusion can manifest as intermittent claudication,
rest pain in the foot or overt tissue loss—ulceration, gangrene.
Intermittent claudication is a pain or tightness in the muscle on exercise (Latin claudicare, to
limp), relieved by rest. Rest pain is a constant severe burning-type pain or discomfort in the
forefoot at rest, typically occurring at night when the blood flow slows down.

Auscultation for bruits after exercise The main features are compared in TABLE 55.4 .

Listen over abdomen and femoral area for bruits.

Table 55.4 Comparison between intermittent claudication and ischaemic rest pain
Note: Neurological examination (motor, sensory, reflexes) is normal unless there is associated
diabetic peripheral neuropathy.
Intermittent claudication Ischaemic rest pain
Treatment Quality of pain Tightness/cramping Constant ache
Timing of pain Daytime; walking, other Night-time; rest
Golden rules: Occlusion is usually reversible if treated within 4 hours (i.e. limb salvage). It is (typical) exercise
often irreversible if treated after 6 hours (i.e. limb amputation).
Tissue affected Muscle Skin
Unfractionated heparin (immediately) 80 U/kg IV Site Calf > thigh > buttock Forefoot, toes, heels
Emergency embolectomy (ideally within 4 hours): Aggravation Walking, exercise Recumbent, walking
Relief Rest Hanging foot out of bed;
under general or local anaesthesia dependency
through an arteriotomy site in the common femoral artery Associations Beta blockers Night cramps
Anaemia Swelling of feet
embolus extracted with Fogarty balloon or catheter

or
Intermittent claudication
Stenting of vessels (less invasive and less expensive)
The level of obstruction determines which muscle belly is affected (see FIGS 55.2 and 55.6 ).
Angioplasty

Arterial bypass if acute thrombosis in chronically diseased artery

Proximal obstruction (e.g. aortoiliac)

In selected cases, thrombolysis with streptokinase or urokinase appropriate Pain in the buttock, thigh and calf, especially when walking up hills and stairs

Amputation (early) if irreversible ischaemic changes Page 668

Persistent fatigue over whole lower limb

Lifetime anticoagulation will be required Impotence is possible (Leriche syndrome)

Note: An acutely ischaemic limb is rarely life-threatening in the short term. Thus, even in the Obstruction in the thigh
extremely aged, demented or infirm, a simple embolectomy is not only worthwhile but also is
usually the most expedient treatment option. Superficial femoral (the commonest) causes pain in the calf (e.g. claudication at 200–500 m),
depending on collateral circulation
 profunda femoris → claudication at 100 m Arteriography should be performed only if surgery is contemplated.

multiple segment involvement → claudication at 40–50 m Conservative treatment

Causes General measures (if applicable): control obesity, diabetes, hypertension, hyperlipidaemia,
cardiac failure.
Atherosclerosis (mainly men over 50, smokers)
Achieve ideal weight. Page 669
Embolisation (with recovery)
There must be absolutely no smoking.
Buerger disease: affects small arteries, causes rest pain and cyanosis (claudication uncommon)
Exercise: daily graduated exercise to the level of pain. About 50% will improve with walking;
Popliteal entrapment syndrome (<40 years of age) so advise as much walking as possible. It is a mistake to avoid walking for fear of bringing on
the first vestiges of pain.
Note: The presence of rest pain implies an immediate threat to limb viability.
Try to keep legs warm and dry.
Investigations
Maintain optimal foot care (podiatry).
FBE: exclude polycythaemia and thrombocytosis
Drug therapy: aspirin 150 mg daily + a statin. Consider ACE inhibitors.
Colour Doppler duplex ultrasound: measure resting ankle systolic BP; determine
ankle/brachial index; normal value 0.9–1.1; <0.9 suggestive of PAD, <0.5 likely severe PAD Note:
and <0.4 critical
Vasodilators and sympathectomy are of little value.
CTA angiography: the gold standard, reserved for proposed intervention
About one-third progress, while the rest regress or don’t change.9
Digital subtraction angiography (developing)
When to refer to a vascular surgeon
MRI: good sensitivity and specificity
‘Unstable’ claudication of recent onset; deteriorating
Management of occlusive vascular disease Severe claudication—unable to maintain lifestyle
Prevention (for those at risk) Rest pain
Smoking is the risk factor and must be stopped. ‘Tissue loss’ in feet (e.g. heel crack, ulcers on or between toes, dry gangrenous patches,
infection)
Other risk factors, especially hyperlipidaemia, must be attended to and weight reduction to
ideal weight is important. Surgery. Reconstructive vascular surgery is indicated for progressive obstruction, intolerable
claudication and obstruction above the inguinal ligament:
Exercise is excellent, especially walking.
endarterectomy—for localised iliac stenosis
Diagnostic plan
bypass graft (iliac or femoral artery to popliteal or anterior or posterior tibial arteries)
Check if patient is taking beta blockers.
Percutaneous transluminal dilation. This angioplasty is performed with a special intra-arterial
General tests: blood examination, random blood sugar, urine examination, ECG. balloon catheter for localised limited occlusions. An alternative to the balloon is laser
angioplasty.
Measure blood flow by duplex ultrasound examination or ankle brachial index.
Venous disorders Pregnancy
Multiparity
Varicose veins Age
Occupation
Varicose veins are dilated, tortuous and elongated superficial veins in the lower extremity. Diet (low fibre)

The veins are dilated because of incompetence of the valves in the superficial veins or in the
communicating or perforating veins between the deep and superficial systems (see FIG. 55.7 ).
The cause is a congenital weakness in the valve and the supporting vein wall, but there are
several predisposing factors (TABLE 55.5 ). Previous DVT can damage valves, especially calf
perforators, and cause varicose veins.
Dilated superficial veins, which can mimic varicose veins, may be caused by extrinsic
compression of the veins by a pelvic or intra-abdominal tumour (e.g. ovarian cancer,
retroperitoneal fibrosis). Uncommonly, but importantly, superficial veins dilate as they become
collaterals following previous DVT, especially if the iliofemoral segment is involved.

Symptoms
Varicose veins may be symptomless, the main complaint being their unsightly appearance.
Symptoms include swelling, fatigue, heaviness in the limb, an aching discomfort and itching.

Varicose veins and pain

They may be painless even if large and tortuous. Pain is a feature where there are incompetent
perforating veins running from the posterior tibial vein to the surface through the soleus muscle.

Severe cases lead to lower leg venous hypertension syndrome,10 characterised by pain Page 670
that is worse after standing, cramps in the leg at night, irritation and pigmentation of the
skin, swelling of the ankles and loss of skin features such as hair.

A careful history will usually determine if the aching is truly due to varicose veins and not to
transient or cyclical oedema, which is a common condition in women.11

The complications of varicose veins are summarised in TABLE 55.6 .

Table 55.6 Complications of varicose veins

Superficial thrombophlebitis
Skin ‘eczema’ (10%)
FIGURE 55.7 The common sites of varicose veins Skin ulceration (20%)
Bleeding
Calcification
Table 55.5 Risk factors for varicose veins Marjolin ulcer (squamous cell carcinoma)

Female sex (5:1)

Family history Examination
The following tests will help determine the site or sites of the incompetent valves.

Venous groin cough impulse. This helps determine long saphenous vein incompetence. Place the
fingers over the line of the vein immediately below the fossa ovalis (4 cm below and 4 cm lateral
to the pubic tubercle).12 Ask the patient to cough—an impulse or thrill will be felt expanding and
travelling down the long saphenous vein. A marked dilated long saphenous vein in the fossa
ovalis (saphena varix) will confirm incompetence. It disappears when the patient lies down.

Trendelenburg test. In this test for long saphenous vein competence, the patient lies down and
the leg is elevated to 45° to empty the veins (see FIG. 55.8A ). Apply a tourniquet with
sufficient pressure to prevent reflux over the upper thigh just below the fossa ovalis.
(Alternatively, this opening can be occluded by firm finger pressure, as originally described by
Trendelenburg.)

FIGURE 55.8b Trendelenburg test: test for competence of long saphenous

venous system (medial aspect of knee)

Note: A doubly positive Trendelenburg test is when the veins fill rapidly before the pressure is
FIGURE 55.8a Trendelenburg test: the leg is elevated to 45° to empty the released and then with a ‘rush’ when released. This indicates coexisting incompetent perforators
veins and a tourniquet applied and long saphenous vein.

The patient then stands. The long saphenous system will remain collapsed if there are no Short saphenous vein incompetence test. A similar test to the Trendelenburg test is Page 671
incompetent veins below the level of the fossa ovalis. When the pressure is released, the vein performed with the pressure (tourniquet or finger) being applied over the short
will fill rapidly if the valve at the saphenofemoral junction is incompetent (see FIG. 55.8B ). saphenous vein just below the popliteal fossa (see FIG. 55.9 ).
This is a positive Trendelenburg test.
 Use supportive stockings or tights (apply in morning before getting out of bed and standing
up).

Avoid scratching itching skin over veins.

Compression sclerotherapy (liquid or foam)

Use a small volume of sclerosant (e.g. sodium tetradecyl sulphate—Fibro-vein 3%).

It is ideal for smaller, isolated veins, particularly below the knee joint.

Radiofrequency ablation

Surgical ligation and stripping

This is the best treatment when a clear association exists between symptoms and obvious
varicose veins (i.e. long saphenous vein incompetence).

Remove obvious varicosities and ligate perforators.

Note: Surgery for varicose veins may not relieve heavy, aching legs.

Superficial thrombophlebitis
Clinical features
FIGURE 55.9 Testing for competence of the short saphenous vein
Usually occurs in superficial varicose veins
Incompetent perforating vein test. Accurate clinical tests to identify incompetence in the three
common sites of perforating veins on the medial aspect of the leg, posterior to the medial border Presents as a tender, reddened subcutaneous cord in leg
of the tibia, are difficult to perform. The general appearance of the leg and palpation of the sites
give some indication of incompetence here. Usually localised oedema

Note: Venous duplex ultrasound studies will accurately localise sites of incompetence and No generalised swelling of the limb or ankle
determine the state of the functionally important deep venous system.
Requires symptomatic treatment only (see below) unless there is extension above the level of
Prevention the knee, when there is a risk of pulmonary embolism

Maintain ideal weight. Venous duplex scan is diagnostic and also determines:

Avoid constipation (high-fibre diet). extent of superficial thrombosis

Rest and wear supportive stockings if at risk (pregnancy, a standing occupation). if coexisting, unsuspected DVT is present

Treatment Treatment

Keep off legs as much as possible. The objective is to prevent propagation of the thrombus by uniform pressure over the vein.

Sit with legs on a footstool. Cover whole tender cord with a thin foam pad.
 Apply a firm elastic bandage (preferable to crepe) from foot to thigh (well above cord). Use aspirin or paracetamol for pain and fever.

Leave pad and bandage on for 7–10 days. Wound cleansing and dressing with non-sticking saline dressings.

Bed rest with leg elevated if severe, otherwise keep active. Streptococcus pyogenes15
If complication of IV infusion: prescribe a NSAID (e.g. diclofenac 75 mg bd or diclofenac 1% If S. pyogenes confirmed:
gel topically tds).13
phenoxymethylpenicillin 500 mg (o) 6 hourly for 5–10 days or procaine penicillin 1.5 g IM
If spontaneous: LMWH (e.g. dalteparin 5000 units SC daily for 4 weeks).13 daily for 5 days
The traditional glycerin and ichthyol dressings are still useful. If organism doubtful:
Consider association between thrombophlebitis and deep-seated carcinoma. Page 672 flu/dicloxacillin 500 mg (o) 6 hourly for 7–10 days
If the problem is above the knee, ligation of the vein at the saphenofemoral junction is If penicillin hypersensitive/allergic:
indicated.
cephalexin 500 mg (o) 6 hourly
Deep venous thrombosis or (if severe)
Refer to CHAPTER 122 . cefazolin 2 g IV 6 hourly

Iliofemoral thrombophlebitis (phlegmasia dolens)14 Staphylococcus aureus15

This rare but life-threatening condition is when an extensive clot obstructs the iliofemoral veins Severe, may be life-threatening: flucloxacillin/dicloxacillin 2 g IV 6 hourly for 7–10 days
(following an acute DVT) so completely that subcutaneous oedema and blanching occurs. This
initially causes a painful ‘milky white leg’, previously termed phlegmasia alba dolens (used to be Less severe: flucloxacillin/dicloxacillin 500 mg (o) 6 hourly for 5–10 days
seen in late pregnancy or early puerperium). It may deteriorate and become cyanotic—
phlegmasia cerulea dolens—representing incipient venous infarction. Massive iliofemoral or
occlusion is an emergency as such patients may develop ‘shock’, gangrene and pulmonary
embolus. Limb amputation will usually follow. cephalexin 500 mg (o) 6 hourly

Other painful conditions Furuncle (boil) of groin

A painful furuncle caused by S. aureus in the hairy area of the groin is common. The aim is to
Cellulitis and erysipelas treat conservatively.
The causative organisms are Streptococcus pyogenes (commonest) and Staphylococcus aureus. Localised:
Others include Haemophilus influenzae, Aeromonas and fungal infection (especially in the
immunocompromised). Predisposing factors include cuts, abrasions, ulcers, insect bites, foreign local antiseptics
matter, IV drug use and skin disorders such as eczema and tinea pedis of toe webs. Look for
evidence of diabetes. hot compresses

Rest in bed. drain when ‘ripe’

Elevate limb (in and out of bed). Deep/extensive:

 dicloxacillin 500 mg (o) 6 hourly for 5–7 days Massage and apply heat to affected muscles.

drain when ‘ripe’, not before Try to keep bedclothes off feet and lower part of legs—a doubled-up pillow at the foot of the
bed can be used.
Tibial stress syndrome
Medication for idiopathic cramps
Tibial stress syndrome (usual medial, possibly lateral tibia), formerly known as ‘shin splints’,
causes pain and localised tenderness over the tibial border. It is related to exercise, especially Tonic water and oral fluids before retiring may help.
running and jumping on hard surfaces. Relative rest for at least 6 weeks is first-line management.
There is no strong evidence for intervention. Drug treatment: consider biperiden 2–4 mg nocte

Quinine sulphate is effective, but with a 1–3% incidence of haematological abnormalities,

Pain in the calf especially thrombocytopenia, it is no longer recommended in Australia. It is very toxic to
children. There is no scientific evidence to support the use of magnesium for idiopathic muscle
Calf pain is usually not serious except if swelling is present. Some of the uncommon causes have cramps.16
serious implications and necessitate careful assessment.

Common causes: cramp, muscle stiffness, muscle injury, e.g. gastrocnemius tear, soleus strain,
claudication (PVD).
Not to be missed: deep venous thrombosis, cellulitis, thrombophlebitis, popliteal artery
entrapment.
Other: ruptured Baker cyst, referred pain (back, knees), Achilles tendon rupture.
Roller injuries to legs
A patient who has been injured by a wheel passing over a limb, especially a leg, can present a
difficult problem. A freely spinning wheel is not so dangerous, but serious injuries occur when a
non-spinning (braked) wheel passes over a limb and these are compounded by the wheel then
reversing over it. This leads to a ‘degloving’ injury due to shearing stress. The limb may look
satisfactory initially, but skin necrosis may follow.

Torn ‘monkey muscle’ Admit to hospital for observation.

The so-called torn ‘monkey muscle’ or ‘tennis leg’ is a rupture or severe strain of the medial Fasciotomy with open drainage may be an option for compartment syndrome.
head of the gastrocnemius muscle in the lower calf. Symptoms include a sudden sharp pain in the
Surgical decompression with removal of necrotic fat is often essential.
calf with an inability to comfortably put the heel to the ground and a need to walk on tiptoe.
There is localised tenderness and hardness, possible local bruising and painful dorsiflexion of the Rehydrate the patient and monitor renal function.
ankle. Treatment includes RICE treatment for 48 hours, ice packs every 2 waking hours, a firm
elastic bandage (toes to below the knee), crutches if severe, a raised heel, active mobilisation
after 48 hours’ rest and physiotherapist-supervised stretching massage and exercises. When to refer
Page 673 The sudden onset of pain, pallor, pulselessness, paralysis, paraesthesia and coldness in the leg
Nocturnal muscle cramps
Worsening intermittent claudication
Note: Treat cause (if known)—tetanus, drugs, sodium depletion, hypothyroidism,
Rest pain in foot
hypocalcaemia, pregnancy.
Presence of popliteal aneurysm
Physical measures
Superficial thrombophlebitis above knee
Muscle stretching and relaxation exercises: calf stretching for 3 minutes before retiring,15 then
rest in chair with the feet out horizontal to the floor with cushion under tendoachilles for 10 Evidence of DVT
minutes.
Suspicion of gas gangrene in leg
 Worsening hip pain Database of Syst Rev, 2016; Issue 10.

Evidence of disease in bone (e.g. neoplasia, infection, Paget disease)
Severe sciatica with neurological deficit (e.g. floppy foot, absent reflexes)
Practice tips
Always X-ray the legs (including hips) of a patient complaining of unusual deep
leg pain, especially a child.
Pain that does not fluctuate in intensity with movement, activity or posture has an
inflammatory or neoplastic cause.
Hip disorders such as osteoarthritis and slipped femoral epiphysis can present as
pain in the knee (usually medial aspect).
Consider retroperitoneal haemorrhage as a cause of acute severe nerve root pain,
especially in people on anticoagulant therapy.
10
Avoidance of amputation with acute lower limb ischaemia depends on early
recognition (surgery within 4 hours—too late if over 6 hours).
11
4 Wegner I et al. Traction for low‐back pain with or without sciatica. Cochrane Database of
Syst Rev, 2013; Issue 8.
5 Oliveira CB et al. Epidural corticosteroid injections for lumbosacral radicular pain.
Cochrane Database of Syst Rev, 2020; Issue 4.
6 Zaina F et al. Surgical versus non-surgical treatment for lumbar spinal stenosis. Cochrane
Database Syst Rev, 2016; Issue 1: Art No. CD010264.
7 Hoppenfeld S. Physical Examination of the Spine and Extremities. Norwalk, CT: Appleton
& Lange, 1982.
8 Bates B. A Guide to Physical Examination and History Taking (5th edn). New York:
Lippincott, 1991: 450.
9 Fry J, Berry H. Surgical Problems in Clinical Practice. London: Edward Arnold, 1987:
125–34.
Ryan P. A Very Short Textbook of Surgery (2nd edn). Canberra: Dennis & Ryan, Page 674
1990: 61.
Hunt P, Marshall V. Clinical Problems in General Surgery. Sydney: Butterworths, 1991:
172.

Patient education resources 12 Davis A, Bolin T, Ham J. Symptom Analysis and Physical Diagnosis (2nd edn). Sydney:
Pergamon, 1990: 179.
Hand-out sheets from Murtagh’s Patient Education 8th edition: 13 Acute limb ischaemia [published 2018]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Ltd; 2018. www.tg.org.au, accessed October 2019.
Calf muscle injury
14 Colucciello SA. Evaluation and management of deep venous thrombosis. Primary Care
Cramp Rep, 1996; 2(12): 105.
Deep vein thrombosis 15 Skin and soft tissue infections: bacterial [published 2019]. In: Therapeutic Guidelines
[digital]. Melbourne: Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed
Sciatica
October 2019.

References 16 Neurology [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Guidelines Limited; 2017. www.tg.org.au, accessed October 2019.
1 House AK. The painful limb: is it intermittent claudication? Modern Medicine Australia,
1990; November: 16–26.

2 Tunnessen WW. Signs and Symptoms in Paediatrics (2nd edn). Philadelphia: Lippincott,
1988: 483.

3 Rasmussen‐Barr E et al. Non‐steroidal anti‐inflammatory drugs for sciatica. Cochrane

 Page 675
56 The painful knee
The human knee is a joint and not a source of entertainment.
PERCY HAMMOND, 1912, REVIEW OF A PLAY
The knee, which is a gliding hinge joint, is the largest synovial joint in the body. Its small area of
contact of the bone ends at any one time makes it dependent on ligaments for its stability.
Although this allows a much increased range of movement it does increase the susceptibility to
injury, particularly from sporting activities. Finding the cause of a knee problem is one of the
really challenging features of practice. It is useful to remember that peripheral pain receptors
respond to a variety of stimuli. These include inflammation due either to inflammatory disorders
or chemical irritation such as crystal synovitis, traction pain (e.g. trapped meniscus stretching the
capsule), tension on the synovium capsule (e.g. effusion or haemarthrosis) and impact loading of
the subchondral bone.
Key facts and checkpoints
The most common presenting symptoms in order of frequency are pain, stiffness,
swelling, clicking and locking.1
The relative frequencies of most knee conditions are age-related.
Excessive strains across the knee, such as a valgus-producing force, are more
likely to cause ligament injuries, while twisting injuries tend to cause meniscal tears.
A ruptured anterior cruciate ligament (ACL) is a commonly missed injury of the
knee.2 It should be suspected with a history of either a valgus strain or a sudden
pivoting of the knee, often associated with a cracking or popping sensation, or
‘something going out and back’. It is often associated with the rapid onset of
haemarthrosis or inability to walk or weight-bear.
A rapid onset of painful knee swelling (minutes to 1–4 hours) after injury indicates
blood in the joint—haemarthrosis.
Swelling over 1–2 days after injury indicates synovial fluid—traumatic synovitis.
Any collateral ligament repair should be undertaken early, but, if associated with
ACL injuries, early surgery may result in knee stiffness. Thus, surgery is often
delayed. With isolated ACL ruptures, early reconstruction is appropriate in the high-
performance athlete; otherwise, delayed reconstruction is appropriate if there is
clinical instability.3
Acute spontaneous inflammation of the knee may be part of a systemic condition
such as rheumatoid arthritis, rheumatic fever, gout, pseudogout
(chondrocalcinosis), a spondyloarthropathy (psoriasis, ankylosing spondylitis,
reactive arthritis, bowel inflammation), Lyme disease and sarcoidosis.
Consider Osgood–Schlatter disorder (OSD) in the prepubertal child (especially a
boy aged 10–14) presenting with knee pain.
Disorders of the lumbosacral spine (especially L3 to S1 nerve root problems) and of
the hip joint (L3 innervation) refer pain to the region of the knee joint.
If infection or haemorrhage is suspected, the joint should be aspirated.
The condition known as anterior knee pain is the commonest type of knee pain and
accounts for at least 11% of sports-related musculoskeletal problems. The prime
cause of this is patellofemoral dysfunction pain. It is a benign condition with a good
prognosis. Consider Hoffa syndrome.
The knee and referred pain—key knowledge
Pain from the knee joint
Disorders of the knee joint give rise to pain felt accurately at the knee, often at some particular
part of the joint, and invariably in the anterior aspect, very seldom in the posterior part of the
knee. An impacted loose body complicating osteoarthritis and a radial tear of the lateral
meniscus4 are the exceptional disorders liable to refer pain proximally and distally in the limb,
but the problems obviously originate from the knee.
Page 676
Pain referred to the knee
Referred pain to the knee or the surrounding region is a time-honoured trap in medicine. The two
classic problems are disorders of the hip joint and lumbosacral spine.
The hip joint is mainly innervated by L3, hence pain is referred from the groin down the front
and medial aspects of the thigh to the knee (see FIG. 56.1 ). Sometimes the pain can be
experienced on the anteromedial aspect of the knee only. It is not uncommon for children with
a slipped upper femoral epiphysis to present with a limp and knee pain.
 Knee pain can be referred from the lumbosacral spine. People with disc lesions may notice Patellofemoral syndrome
that sitting, coughing or straining hurts the knee, whereas walking does not. Prepatellar bursitis
Serious disorders not to be missed
Acute cruciate ligament tear
Vascular disorders:
deep venous thrombosis
superficial thrombophlebitis
Neoplasia:
primary in bone
metastases
Severe infections:
septic arthritis
tuberculosis
Rheumatoid arthritis
Juvenile chronic arthritis
Rheumatic fever
Pitfalls (often missed)
Referred pain: back or hip
Foreign bodies
Intra-articular loose bodies
Osteochondritis dissecans
Osteonecrosis
FIGURE 56.1 Possible area of referred pain from disorders of the hip joint
Synovial chondromatosis
L3 nerve root pressure from an L2–3 disc prolapse (uncommon) and L4 nerve root pain will Synovial plica syndrome
cause anteromedial knee pain; L5 reference from an L4–5 disc prolapse can cause anterolateral Osgood–Schlatter disorder
knee pain, while S1 reference from an L5–S1 prolapse can cause pain at the back of the knee (see Meniscal tears including degenerative tears
FIG. 56.1 ).
Fractures around knee
Pseudogout (chondrocalcinosis)
A diagnostic approach Gout → patellar bursitis
Ruptured popliteal cyst
A summary of the diagnostic strategy model is presented in TABLE 56.1 .
Hoffa fat pad syndrome
Rarities:
Table 56.1 The painful knee: diagnostic strategy model sarcoidosis
Paget disease
Probability diagnosis spondyloarthropathy
Ligament strains and sprains ± traumatic synovitis Seven masquerades checklist
Osteoarthritis Depression
 Diabetes
Drugs (indirect)
Spinal dysfunction
Is the patient trying to tell me something?
Psychogenic factors relevant, especially with possible injury compensation.
Page 677
Probability diagnosis
A UK study1 highlighted the fact that the commonest causes of knee pain are simple ligamentous
strains and bruises due to overstress of the knee or other minor trauma. Traumatic synovitis may
accompany some of these injuries. Some of these so-called strains may include a variety of
recently described syndromes, such as the synovial plica syndrome, patellar tendinopathy and
infrapatellar compressive fat pad inflammation (see FIG. 56.2 ).
FIGURE 56.2 Lateral view of knee showing typical sites of various causes of
knee pain
Low-grade trauma of repeated overuse, such as frequent kneeling, may cause prepatellar bursitis
known variously as ‘housemaid’s knee’ or ‘carpet layer’s knee’. Infrapatellar bursitis is referred
to as ‘clergyman’s knee’.
Osteoarthritis of the knee, especially in the elderly, is a very common problem. It may arise
spontaneously or be secondary to previous trauma with associated internal derangement and
instability.
The most common overuse problem of the knee is the patellofemoral joint pain syndrome (often
previously referred to as chondromalacia patellae).
Serious disorders not to be missed
Neoplasia in the bones around the knee is relatively uncommon but still needs consideration. The
commonest neoplasias are secondaries from the breast, lung, kidney, thyroid and prostate.
Uncommon examples include osteoid osteoma, osteosarcoma and Ewing tumour (more likely in
younger people). Septic arthritis and infected bursitis are prone to occur in the knee joint,
especially following contaminated lacerations and abrasions. Septic arthritis from blood-borne
infection can be of the primary type in children, where the infection is either staphylococcal or
due to Haemophilus influenzae, or gonococcal arthritis in adults. Rheumatic fever should be kept
in mind with a fleeting polyarthritis that involves the knees and then affects other joints.
Inflammatory disorders such as spondyloarthropathies, sarcoidosis, chondrocalcinosis (a crystal
arthropathy due to calcium pyrophosphate dihydrate in the elderly), gout and juvenile chronic
arthritis have to be considered in the differential diagnosis.
Red flag pointers for knee pain
Acute swelling with or without trauma
Acute or chronic erythema
Systemic features (e.g. fever) in absence of trauma
Unexplained chronic, persistent pain
Pitfalls
There are myriad pitfalls in knee joint disorders, often arising from ignorance, because there are
myriad problems that are difficult to diagnose. Fortunately, many of these problems can be
diagnosed by X-ray. A particular trap is a foreign body, such as a broken needle acquired by
kneeling on carpet.
The presence of a spontaneous effusion demands careful attention because it could represent a
rheumatic disorder or conditions such as osteochondritis dissecans (more common in the young)
or osteonecrosis of the femoral condyle (a necrotic problem in the elderly) and perhaps a
subsequent loose body in the joint. History
A ruptured Baker cyst will cause severe pain behind the knee and can be confused with deep
The history is the key to diagnosis. If any injury is involved careful description of the nature of
venous thrombosis. It is important to bear in mind complications of varicose veins, which can the injury is necessary. This includes past history. A special problem relates to the elderly who
cause pain or discomfort around the knee joint.
can sustain knee injuries after a ‘drop attack’, but attention can easily be diverted away from the
Page 678
knee with preoccupation with the cerebral pattern.
General pitfalls It is relevant to define whether the pain is acute or chronic, dull or sharp, and continuous or
recurring. Determine its severity and position and keep in mind age-related causes.
Overlooking referred pain from the hip or low back as a cause of knee pain

Failing to realise that meniscal tears can develop due to degeneration of the menisci with only Key questions
minimal trauma
Related to an injury
Failing to X-ray the knee joint and order special views to detect specific problems, such as a
fractured patella or osteochondritis dissecans Can you explain in detail how the injury happened?

Ottawa knee rules for X-ray following trauma Did you land awkwardly after a leap in the air?

Any of the following: Did you get a direct blow? From what direction?

aged 55 years or older Did your leg twist during the injury?

isolated tenderness of the patella Did you feel a ‘pop’ or hear a ‘snap’?

tenderness at the head of the fibula Did your knee feel wobbly or unsteady?

inability to flex to 90° Did the knee feel as if the bones separated momentarily?

immediate inability to weight-bear and in the emergency room (four steps: unable to transfer How soon after the injury did the pain develop?
weight twice onto each lower limb). Note: Limping does not qualify.
How soon after the injury did you notice swelling?

Seven masquerades checklist Have you had previous injury or surgery to the knee?

Of these, spinal dysfunction is the prime association. Diabetes may cause pain through a
complicating neuropathy and drugs such as diuretics may cause gout in the elderly.
Psychogenic considerations
Patients, young and old, may complain of knee pain, imaginary or exaggerated, to gain attention,
especially if compensation for an injury is involved. This requires discreet clinical acumen to
help patients work through the problem.
Were you able to walk after the injury or did you have to be carried off the ground or court?
Does this involve work care compensation?
No history of injury
Does the pain come on after walking, jogging or other activity?
How much kneeling do you do? Scrubbing floors, cleaning carpets?

The clinical approach Could there be needles or pins in the carpet?

Does your knee lock or catch?

 Does swelling develop in the knee?

Does it ‘grate’ when it moves?

Does the pain come on at rest and is there morning stiffness?

Do you feel pain when you walk on steps or stairs?

Significance of symptoms
Swelling after injury
The sudden onset of painful swelling (usually within 60 minutes) is typical of haemarthrosis (see
FIGS 56.3 and 56.4 ). Bleeding occurs from vascular structures such as torn ligaments, torn
synovium or fractured bones, while injuries localised to avascular structures such as menisci do
not usually bleed. About 75% of cases are due to ACL tears.5 If a minor injury causes acute
haemarthrosis suspect a bleeding diathesis or anticoagulant usage. The causes of haemarthrosis
FIGURE 56.4 Haemarthosis: dramatic surgical release of intra-articular blood
are listed in TABLE 56.2 .
under pressure in the knee shown in FIGURE 56.3
Page 679

Table 56.2 Causes of haemarthrosis

Torn cruciate ligaments, esp. ACL

Capsular tears with collateral ligament tears
Peripheral meniscal tears
Dislocation or subluxation of patella
Osteochondral fractures
Bleeding disorders (e.g. haemophilia), anticoagulants

Swelling of an intermediate rate of onset, stiffness and pain in the order of hours (e.g. 6–24
hours) is typical of an effusion of synovial fluid. Causes include meniscal tears and milder
ligamentous injuries. Swelling gradually developing over days and confined to the anterior knee
FIGURE 56.3 Haemarthrosis in a sportsman presenting with an acutely is typical of bursitis such as ‘housemaid’s knee’.
painful swollen knee
Recurrent or chronic swelling
This indicates intra-articular pathology and includes:

patellofemoral pain syndrome

osteochondritis dissecans
 degenerative joint disease including degenerative meniscus tears Osteochondritis dissecans (usually lateral side of medial femoral condyle)

arthritides Retropatellar fragment (e.g. from dislocation of patella)

Locking Dislodged osteophyte Page 680

Locking usually means a sudden inability to extend the knee fully (occurs at 10–45°, average Osteochondral fracture—post injury
30°) but ability to flex fully.6 The importance of the symptom has been magnified in light of
Synovial chondromatosis
increasing evidence that arthroscopic repairs of degenerative knees have little evidence to
support them, with locking being the primary exception.
Clicking
Causes Clicking may be due to an abnormality such as patellofemoral maltracking or subluxation, a
loose intra-articular body or a torn meniscus, but can occur in normal joints when people climb
True locking:
stairs or squat.
torn meniscus (bucket handle)
Anterior knee pain7
loose body (e.g. bony fragment from osteochondritis dissecans)
Common causes include:
torn ACL (remnant)
fat pad disorder (inflammation)
flap of articular cartilage
patellofemoral syndrome
avulsed anterior tibial spine
osteoarthritis of the knee
dislocated patella
patellar tendinopathy
synovial osteochondromatosis
osteonecrosis
Pseudo-locking:
Lateral knee pain
patellofemoral disorders
Consider:
first- or second-degree medial ligament tear
osteoarthritis of lateral compartment of knee
strain of ACL
lesions of the lateral meniscus
gross effusion
patellofemoral syndrome
pain and spasm of hamstrings
Medial knee pain
Catching
Consider:
‘Catching’ of the knee implies that the patient feels that something is ‘getting in the way of joint
movement’ but not locking. Causes include any of the conditions that cause locking, but a osteoarthritis of medial compartment of knee
subluxing patella and loose bodies in particular must be considered.
lesions of the medial meniscus
Causes of loose bodies
 patellofemoral syndrome above the patella—it feels warm, boggy, rubbery and has no fluid thrill.

Flex the knees to 45° and check for a pseudocyst, especially of the lateral meniscus (see
Examination FIG. 56.6 ).
The provisional diagnosis may be evident from a combination of the history and simple
inspection of the joint but the process of testing palpation, movements (active and passive) and
specific structures of the knee joint helps to pinpoint the disorder.

Inspection
Inspect the knee with the patient walking, standing erect and lying supine. Ask the patient to
squat to help localise the precise point of pain. Then ask them to sit on the couch with legs
hanging over the side and note any abnormality of the patella. Note any deformities, swelling or
muscle wasting.
FIGURE 56.6 Pseudocyst of the lateral meniscus: flex the knees to 45° to
The common knee deformities are genu valgum ‘knock knees’ (see FIG. 56.5A ), genu
recurvatum ‘back knee’ (see FIG. 56.5B ) and genu varum ‘bowed legs’ (see FIG. 56.5C ). force lump (if present) to appear

Fluid effusion
The bulge sign: compress the medial side of the joint and evacuate any fluid. The test is positive
when the lateral side of the joint is then stroked and the fluid is displaced across the joint,
creating a visible bulge or filling of the medial depression (see FIG. 56.7 ).

FIGURE 56.5 Knee deformities: (a) genu valgum (‘knock knees’): tibia
deviates laterally from knee, (b) genu recurvatum (‘back knee’), (c) genu
varum (‘bowed legs’)

A useful way of remembering the terminology is to recall that the ‘l’ in valgus stands for ‘l’ in
lateral.7 In the normal knee the tibia has a slight valgus angulation in reference to the femur, the
angulation being more pronounced in women.

Palpation
Palpate the knee generally, concentrating on the patella, patella tendon, joint lines, tibial tubercle,
bursae and popliteal fossa.

Palpate for presence of any fluid, warmth, swelling, synovial thickening, crepitus, clicking and
tenderness. Feel for a popliteal (Baker) cyst in the popliteal fossa. Draw the fingers upwards over
FIGURE 56.7 The bulge sign with a knee effusion: fluid bulges into the medial
the suprapatellar pouch: synovial thickening, a hallmark of chronic arthritis, is most marked just
 compartment
The test will be negative if the effusion is gross and tense, in which case the patellar tap test (see
FIG. 56.8 ) is used by sharply tapping the lower pole of the patella against the femur with the
index finger. A positive tap is when the patella can be felt to tap against the femur and then float
free.
Page 681
FIGURE 56.8 The patellar tap test
Movements
Extension: normal is 0–5°. The loss of extension is best measured by lifting the heel off the
couch with the knee held down. In the normal knee the heel will lift 2.5–4 cm off the couch, that
is, into hyperextension.
Flexion (supine or prone): normal to 135°. The normal knee flexes heel to the buttock but in
locking due to medial meniscus tears there may be a gap of 5 or more centimetres between the
heel and buttock.
Rotation: normal 5–10°. Test at 90° with patient sitting over the edge of the couch; rotate the feet
with the hand steadying the knee.
Note: Normally, no abduction, adduction or rotation of the tibia on the femur is possible with the
leg fully extended.
Ligament stability tests
Collateral ligaments. Adduction (varus) and abduction (valgus) stresses of the tibia on the femur
are applied in full extension and then at 30° flexion with the leg over the side of the couch. With
ligament strains there is localised pain when stressed. With a complete (third-degree) tear the
joint will open out. This end-point feel should be carefully noted: firmness indicates stability,
‘mushiness’ indicates damage (see FIG. 56.9 ).
FIGURE 56.9 Medial and lateral ligament instability: (a) medial instability of
knee joint, (b) lateral instability of knee joint
Cruciate ligaments. Stability of the ACL can be tested with the anterior drawer test. This is done
with the patient supine and the knee flexed to 90°. The tibia is pulled forwards off the femur and
in the presence of a cruciate ligament injury there will be increased gliding of the tibia on the
femur. An aberrant positive sign can occur in the presence of posterior cruciate ligament (PCL)
insufficiency, in which case the knee is actually brought back to its normal site from a dropped-
back position. This gives the appearance of a positive anterior drawer sign. In that situation, a
Lachman test will be negative. In the presence of medial ligament injury, the increased external
rotation of the tibia against the femur may add to the positive drawer sign.
Specific provocation tests
The simplest menisci function tests are those outlined in TABLE 56.4 , later in this chapter.
McMurray test. The patient lies on the couch and the flexed knee is rotated Page 682
(internally and externally) in varying degrees of abduction as it is straightened into
extension. A hand over the affected knee feels for ‘clunking’ or tenderness. This can be
difficult in larger patients.
Thessaly test. The patient stands on the affected leg, flat-footed, with the knee flexed to 20°,
with outstretched arms supported by the examiner’s hands. The patient pivots with firm twists
of the body and knee three times medially and laterally on the knee. A positive test is when the
patient experiences joint line discomfort, or locking or catching. This is the most sensitive and
specific clinical test for meniscal injury.6
Apley grind/distraction test. The patient lies prone and the knee is flexed to 90° and then
rotated under a compression force. Reproduction of painful symptoms may indicate meniscal
tear. Then repeat the rotation under distraction—tests ligament damage.
Patella apprehension test. At 15–20° flexion, attempt to push the patella laterally and note the
 patient’s reaction. RA factor tests; ANA; HLA–B27

Patellar tendinopathy. Palpate patellar tendon (refer to FIG. 56.19 , later in this chapter). ESR
Patellofemoral pain test. Refer to FIGURE 56.18 , later in this chapter. blood culture (suspected septic arthritis)
Examine the lumbosacral spine and the hip joint of the affected side. radiology:8

Measurements plain X-ray

Quadriceps. For suspected quadriceps wasting, measure the circumference of the thighs at equal
points above the tibial tuberosity. It is helpful to assess quadriceps function by feeling the tone.
Static Q angle (see FIG. 56.10 )—the angle between the quadriceps muscles and the patella
tendon.
special views: intercondylar (osteochondritis dissecans, loose bodies); tangential (or
skyline view for suspected patella pathology); oblique (to define condyles and patella);
weight-bearing views looking for degenerative arthritis
bone scan: for suspected tumour, stress fracture, osteonecrosis, osteochondritis dissecans

MRI: excellent for diagnosing cartilage and menisci disorders and ligament damage; the
investigation of choice for internal ‘derangement’

ultrasound: good for assessment of patellar tendon, soft tissue mass, fluid collection, Baker
cyst and bursae. However, do not order simply to confirm a clinically obvious joint
effusion.

CT: useful for complex fractures of tibial plateau and patellofemoral joint special dysfunction

special:

examination under anaesthesia

arthroscopy

knee aspiration: culture or crystal examination

Fractures that may be missed on plain films9

Patellar fracture
FIGURE 56.10 The Q angle of the knee gives a measure of patellar alignment
Tibial plateau fracture
If the Q angle is >15° in men and >19° in women there is a predisposition to patellofemoral pain Tibial spine fracture
and instability.8
Epiphyseal injuries in children
Investigations
Osteochondral fracture:
Investigation for the diagnosis of knee pain can be selected from:
patella
blood tests:
femoral condyle
 Stress fracture upper tibia

Avulsion fracture (e.g. Segond fracture of upper lateral tibia, with ACL tear)

Page 683

Knee pain in children

Children may present with unique conditions that are usually related to growth, including
epiphyseal problems. Their tendency towards muscle tightness, especially in the growth spurt,
predisposes them to overuse injuries such as patellar tendinopathy and patellofemoral pain
syndrome.

First decade
A painful knee during the first decade of life (0–10 years) in non-athletes is an uncommon
presenting symptom, but suppurative infection and juvenile chronic arthritis have to be
considered.

Genu valgum or varum is a common presentation but usually not a source of discomfort for the FIGURE 56.11 Lateral subluxation of the patella
child. However, genu valgum, which is often seen around 4–6 years, may predispose to abnormal
biomechanical stresses, which contribute to overuse-type injuries if the child is involved in sport. On examination, the patella is usually in a high and lateral position. Surgery may be required if
symptoms persist.
Second decade
OSD is common in pre-pubertal adolescent boys but can occur in those aged 10–16 years.
Pain in the knee presents most frequently in this decade and is most often due to the
patellofemoral syndrome,10 which is related to the retropatellar and peripatellar regions and Other conditions found typically in this age group include:
usually anterior to the knee. It occurs in the late teenage years of both sexes.
slipped upper femoral epiphysis—usually in middle teenage years after a growth spurt
An important problem is subluxation of the patella, typically found in teenage girls. It is caused
by maltracking of the patellofemoral mechanism without complete dislocation of the patella (see anserinus (‘goose foot’) bursitis
FIG. 56.11 ).
osteochondritis dissecans

Age-related causes of the painful knee are presented in TABLE 56.3 .10

Table 56.3 Age-related causes of painful knee

First decade (0–10 years)

Infection
Juvenile chronic arthritis
Second decade (10–20 years)
Patellofemoral syndrome
Subluxation/dislocation of patella
 Slipped femoral epiphysis (referred) Clinical features
‘Hamstrung’ knee
Commonest in ages 10–14 years
Osteochondritis dissecans
Osgood–Schlatter disorder Boys:girls = 3:1
Anserinus tendinopathy
Bilateral in about one-third of cases
Third decade (20–30 years)
Bursitis Common in sports involving running, kicking and jumping
Mechanical disorders Localised anterior knee pain in region of tibial tubercle during and after activity—gradually
Fourth and fifth decades (30–50 years) increasing over time
Cleavage tear of medial meniscus Aggravated by kneeling down and going up and downstairs
Radial tear of lateral meniscus
Development of lump of the tibia tubercle
Sixth decade and older (50 years and over)
Osteoarthritis Localised swelling and tenderness at affected tubercle
Osteonecrosis
Pain reproduced by attempts to straighten flexed knee against resistance
Paget disease (femur, tibia or patella)
Anserinus bursitis X-ray to confirm diagnosis (widening of the apophysis and possible fragmentation of bone) and
Chondrocalcinosis and gout exclude tumour or fracture (see FIG. 56.12 ).
Osteoarthritis of hip (referred pain)

The little athlete

Children competing in sporting activities, especially running and jumping, are prone to overuse
injuries such as the patellofemoral pain syndrome, traumatic synovitis of the knee joint and OSD.
Haemarthrosis can occur with injuries, sometimes due to a synovial tear without major joint
disruption. If knee pain persists, especially in the presence of an effusion, X-rays should be
performed to exclude osteochondritis of the femoral condyle.11

Page 684

The Ottawa knee rules

A knee X-ray series is only required for children with any of the findings in the Ottawa knee FIGURE 56.12 Features of Osgood–Schlatter disorder
rules (see earlier in this chapter).
Management
Osgood–Schlatter disorder
Treatment is conservative as it is a self-limiting condition (6–18 months: average 12 months).
Osgood–Schlatter disorder (OSD) is a traction apophysitis resulting from repetitive traction
stresses at the insertion of the patellar tendon into the tibial tubercle, which is vulnerable to If acute, use ice packs and analgesics.
repeated traction in early adolescence.
The main approach is to abstain from or modify active sports.
 Localised treatments such as electrotherapy are unnecessary.
Corticosteroid injections should be avoided.12
Plaster cast immobilisation should also be avoided.
Surgery may be used (rarely) if an irritating ossicle persists12 after ossification.
Gentle quadriceps stretching.
Graded return to full activity.
Prevention
Promote awareness and early recognition of OSD.
Program of stretching exercises for quadriceps mechanism in children in sport—thigh and
calf.
Osteochondritis dissecans: juvenile form6
This commonly occurs in adolescent boys aged 5–16 years whereby a segment of articular
cartilage of the femoral condyle (85%) undergoes necrosis and may eventually separate to form
an intra-articular loose body (see FIG. 56.13 ).
FIGURE 56.13 Osteochondritis dissecans: on X-ray, sclerosis of the lateral
aspect of the medial condyle
It usually presents as pain and effusion and locking.
If the fragment has separated, surgery to reattach it can be contemplated.
Knee pain in adults
Rheumatic disorders are very common and responsible for considerable pain or discomfort,
disability and loss of independence in the elderly.
Osteoarthritis is the most common cause and excellent results are now being obtained Page 685
using total knee replacement in those severely affected.
The elderly are particularly prone to crystal-associated joint diseases, including monosodium
urate (gout), CPPD (pseudogout) and hydroxyapatite (acute calcific periarthritis).
Chondrocalcinosis of knee (pseudogout)
The main target of CPPD is the knee, where it causes chondrocalcinosis. Unlike gout,
chondrocalcinosis of the knee is typically a disorder of the elderly with about 50% of the
population having evidence of involvement of the knee by the ninth decade.13 Most cases remain
asymptomatic but patients (usually aged 60 or older) can present with an acutely hot, red,
swollen joint resembling septic arthritis.
Investigations include aspiration of the knee to search for CPPD crystals, and X-ray. If positive,
consider an associated metabolic disorder such as haemochromatosis, hyperparathyroidism or
diabetes. The treatment is similar to acute gout although colchicine is less effective. Acute
episodes respond well to NSAIDs or intra-articular corticosteroid injection.
Osteonecrosis14
Spontaneous osteonecrosis of the knee (SPONK) is more common after the age of 60, especially
in females; it can occur in either the femoral (more commonly) or tibial condyles. The aetiology
is unknown. The sudden onset of pain in the knee, with a normal joint X-ray, is diagnostic of
osteonecrosis. However, the X-ray (especially later) will demonstrate an area of osteonecrosis.
The pain is usually persistent, with swelling and stiffness, and worse at night. It can take three
months for the necrotic area to show radiologically, although a bone scan or MRI may be
positive at an early stage (see FIG. 56.14 ). The condition may resolve in time with reduction of
weight-bearing. Surgery in the form of subchondral drilling may be required for persistent pain
in the early stages.
 locking (17%)

swelling (14%)

loss of movement: restricted flexion, loss of last 5–10° extension

Parrot-beak tear of lateral meniscus:

pain in the lateral joint line

pain radiating up and down the thigh

pain worse with activity

a palpable and visible lump when the knee is examined at 45°

Arthroscopic partial meniscectomy may offer relief in younger patients, or in older Page 686
FIGURE 56.14 Osteonecrosis: necrosis in the medial femoral condyle can patients with locking. The peripheral meniscus is vascular and can be repaired within
take three months to show radiologically 6–12 weeks of injury.15

Cleavage tear of medial meniscus:

Acute injuries
pain in medial joint line

Meniscal tears pain aggravated by slight twisting of the joint

Medial and lateral meniscal tears are usually caused by abduction and adduction forces causing pain provoked by patient lying on the side and pulling the knees together
the meniscus to be compressed between the tibial and femoral condyles and then subjected to a
twisting force or a rotatory movement on a semi-flexed weight-bearing knee. pain worse with activity

The medial meniscus is three times more likely to be torn than the lateral. These injuries are Arthroscopic meniscectomy for a degenerative meniscal tear is one first-line treatment
common in contact sports and are often associated with ligamentous injuries. Suspect these intervention, but systematic reviews found no difference between this method compared with
injuries when there is a history of injury with a twisting movement with the foot firmly fixed on non-operative management.16 However, the subgroup for those with knee locking and collapse
the ground (e.g. anchored in a groove). did benefit.17

However, pain in the knee can present in the patient aged 30–50 years (and beyond) as the
menisci degenerate, with resultant cleavage tears from the posterior horn of the medial meniscus
and ‘parrot-beak’ tears of the mid-section of the lateral meniscus. These problems cause pain
because these particular deformities create tension on the joint capsule and stretch the nerve
ends. Refer to the provocation tests—Thessaly, McMurray and Apley grind tests. X-rays are not
specifically useful, but an MRI scan should confirm diagnosis.
A diagnostic mémoire
TABLE 56.4 is a useful aid in the diagnosis of these injuries. There is a similarity in the clinical
signs between the opposite menisci, but the localisation of pain in the medial or lateral joint lines
helps to differentiate between the medial and lateral menisci.

Clinical features Table 56.4 Typical symptoms and signs of meniscal injuries

General symptoms:8
Medial meniscus tear Lateral meniscus tear
joint-line pain (49%) Mechanism
Twisting force on a weight- Abduction (valgus) force Adduction (varus) force
 loaded flexed knee Internal rotation of femur External rotation of
on tibia femur on tibia
Symptoms
1 Knee pain during and Medial side of knee Lateral side of knee
after activity
2 Locking Yes Yes
3 Effusion + or – + or –
Signs
1 Localised tenderness Medial joint line Lateral joint line (may be
over joint line (with bucket- cyst)
handle tear)
2 Pain on hyperextension Medial joint line Lateral joint line
of knee
3 Pain on hyperflexion of Medial joint line Lateral joint line
knee joint
4 Pain on rotation of lower On external rotation On internal rotation
leg (knee at 90°)
5 Weakened or atrophied May be present May be present
quadriceps

Note: The diagnosis of a meniscal injury is made if three or more of the five examination findings (‘signs’ in TABLE 56.4 ) are present.

Ligament injuries
Tears of varying degrees may occur in the:

anterior cruciate ligament

posterior cruciate ligament FIGURE 56.15 Sites of rupture of the anterior cruciate ligament

medial collateral ligament

Mechanisms
lateral collateral ligament
Sudden change in direction with leg in momentum

Anterior cruciate ligament rupture Internal tibial rotation on a flexed knee (commonest) (e.g. during pivoting)

This is a very serious and disabling injury that may result in chronic instability. Chronic Marked valgus force (e.g. a rugby tackle)
instability can result in degenerative joint changes if not dealt with adequately. Early diagnosis is
essential, but there is a high misdiagnosis rate. Sites of ACL rupture are shown in May be associated with collateral ligament tears and meniscus injuries. The so-called
FIGURE 56.15 . ‘unhappy triad’ is a ruptured ACL, medial meniscus tear and medial collateral ligament tear.
Clinical features lifting the knee into 15–20° of flexion.

Onset of severe pain, especially in early minutes after a sporting injury, such as landing from a
jump, or a forced valgus rotational strain of the knee when another player falls across the
abducted leg
Immediate effusion of blood, usually within 30 minutes
Common sports: contact sports—rugby, football and soccer, basketball, volleyball,
skiing
Differential diagnosis is a subluxed or dislocated patella
Subsequent history of pain and ‘giving way’ of the knee
3. The patient is asked to relax, allowing the knee to ‘fall back’ into the steadying hand
and roll slightly into external rotation.
4. The anterior draw is performed with the second hand grasping the proximal tibia
from the medial side (see FIG. 56.16 ) while the thigh is held steady by the other
hand. The examiner’s knee can be used to steady the thigh.
Page 687
5. The feel of the end point of the draw is carefully noted. Normally there is an obvious
jar felt as the anterior cruciate tightens. In an anterior cruciate deficient knee there
is excess movement and no firm end point. The amount of draw is compared with
the opposite knee. Movement greater than 5 mm is usually considered abnormal.

Examination
Gross effusion

Diffuse joint-line tenderness

Joint may be locked due to effusion, anterior cruciate tag or associated meniscal (usually
medial) tear

Ligament tests:

anterior drawer: negative or positive

pivot shift test: positive (only if instability)

Lachman test: lacking an end point

Note: It may be necessary to examine the knee under anaesthesia, with or without arthroscopy, to
assess the extent of injury. FIGURE 56.16 The Lachman test

The Lachman test
This test is emphasised because it is a sensitive and reliable test for the integrity of the ACL. It is
an anterior draw test with the knee at 15–20° of flexion. At 90° of flexion, the draw may be
negative but the anterior cruciate torn.
Method—Lachman test
1. The examiner should be positioned on the same side of the examination couch as
the knee to be tested.
2. The knee is held at 15–20° of flexion by placing a hand under the distal thigh and
Functional instability due to anterior cruciate deficiency is best elicited with the pivot Page 688
shift test. This is more difficult to perform than the Lachman test.
Pivot shift test
This is an important test for anterolateral rotatory instability. It is positive when anterior cruciate
injuries are sufficient to produce a functional instability.
Method—Pivot shift test
1. The tibia is held in internal rotation by grasping the ankle firmly, with the knee in full
extension.
2. A valgus force is applied to the knee with the hand placed on the lateral aspect of MRI has a high predictive value
the knee just below it (this maximises subluxation in the presence of an ACL tear).
Management
3. The knee is then flexed from 0–90°, listening for a ‘clunk’ of reduction. The test is
positive when there is a sudden change of rhythm during flexion that corresponds Usually managed conservatively with immobilisation and protection for 6 weeks
to relocation of the subluxed knee. This usually occurs between 30° and 45° of
flexion. Graduated weight-bearing and exercises

4. From this flexed position, the knee is extended, seeking a click into subluxation.
This is called a positive jerk test.
Medial collateral ligament rupture
Mechanisms
Management18 Direct valgus force to knee—lateral side knee (e.g. rugby tackle from side)

Management depends on the finding by the surgeon. Surgical repair is reserved for complete External tibial rotation (e.g. two soccer players kicking ball simultaneously)
ligament tears. This usually involves reconstruction of the ligament using patellar or preferably
hamstring tendons. Early reconstruction is appropriate in younger patients who participate in Clinical features
high levels of sporting activity for whom it can be predicted that functional instability will be a
problem. In less active people, a conservative approach is appropriate. The ACL may be These depend on the degree of tear (1st, 2nd or 3rd degree):
trimmed. Cruciate reconstruction can then be undertaken if the knee becomes clinically unstable.
The presence of an ACL injury with a significant medial ligament injury will necessitate pain on medial knee
reconstructive surgery, but this is probably best delayed for some weeks as the subsequent
incidence of knee stiffness is high. aggravated by twisting or valgus stress

localised swelling over medial aspect

Posterior cruciate ligament rupture
pseudo-locking—hamstring strain
Mechanisms
± effusion
Direct blow to the anterior tibia in flexed knee
no end point on valgus stress testing (3rd degree) (see FIG. 56.9A )
Severe hyperextension injury
Note: Check lateral meniscus if MCL tear. Pellegrini–Stieda syndrome—calcification in
Ligament fatigue plus extra stress on knee haematoma at upper (femoral) origin of MCL—may follow.

Clinical features Management

Posterior (popliteal) pain, radiating to calf If an isolated event, this common injury responds to conservative treatment with early limited
motion hinged bracing to prevent opening of the medial joint line. Six weeks of limited motion
Usually no or minimal swelling brace at 20–70° followed by knee rehabilitation usually returns the athlete to full sporting
activity within 12 weeks.
Minimal disability apart from limitation of running or jumping
Note: The same principles of diagnosis and management apply to the less common rupture of the
Pain running downhill lateral collateral ligament, which is caused by a direct varus force to the medial side of the knee.
However, lateral ligament injuries tend to involve the cruciate ligament and reconstruction of
Recurvatum
both ligaments is usually necessary.15
Posterior sag or draw
 Complex regional pain syndrome I bursitis) around the knee, especially from overuse in athletes and in the obese elderly (see
FIG. 56.17 ).
Localised complex regional pain syndrome I (also known as reflex sympathetic dystrophy) can
follow a direct fall onto the knee. (See CHAPTER 82 .)

Page 689
Symptoms
Hypersensitivity

Full extension, loss of flexion

Possible increased sweating

Tenderness of the joint

Overuse syndromes
The knee is very prone to overuse disorders. The pain develops gradually without swelling, is
aggravated by activity and relieved with rest. It can usually be traced back to a change in the
sportsperson’s training schedule, footwear or technique, or to related factors. It may also be
related to biomechanical abnormalities ranging from hip disorders to feet disorders.

Overuse injuries include:

patellofemoral pain syndrome (‘jogger’s knee’, ‘runner’s knee’)

patellar tendinopathy (‘jumper’s knee’)

anserinus tendinopathy/bursitis

semimembranous tendinopathy/bursitis

biceps femoris tendinopathy

quadriceps tendinopathy/rupture

popliteus tendinopathy

iliotibial band friction syndrome (‘runner’s knee’)

the hamstrung knee FIGURE 56.17 Typical painful areas around the knee in overuse syndromes:
(a) anterior aspect, (b) medial aspect
synovial plica syndrome

infrapatellar fat pad inflammation

Patellofemoral pain syndrome
It is amazing how often palpation identifies localised areas of inflammation (tendinopathy or
This refers to idiopathic pain arising from the anterior knee. The syndrome, also known as
chondromalacia patellae or anterior knee pain syndrome and referred to as ‘jogger’s knee’,
‘runner’s knee’ or ‘cyclist’s knee’, is the most common overuse injury of the knee. There is
usually no specific history of trauma. It may be related to biomechanical abnormalities and
abnormal position and tracking of the patella (e.g. patella alta). It usually presents in females
aged 13–15 years with faulty knee mechanisms or in people aged 50–70 years with osteoarthritis
of the patellofemoral joint.19

Clinical features
Pain behind or adjacent to the patella or deep in the knee

Pain aggravated during activities that require flexion of the knee under loading:

climbing stairs FIGURE 56.18 Special sign of the patellofemoral pain syndrome
walking down slopes or stairs
Treatment
squatting
Give reassurance and supportive therapy.
prolonged sitting
Reduce any aggravating activity.
The ‘movie theatre’ sign: using aisle seat to stretch knee
Refer to a physiotherapist.
Palpable crepitus around patella may be present
Correct any underlying biomechanical abnormalities such as pes planus (flat feet) by use of
Signs (chondromalacia patellae) orthotics and correct footwear.

Patellofemoral crepitation during knee flexion and extension is often palpable, and pain may be Employ quadriceps (especially) and hamstring exercises.20
reproduced by compression of the patella onto the femur as it is pushed from side to side with the
Paracetamol for analgesia: consider course (trial) of NSAIDs.
knee straight or flexed (Perkins test).

Page 690 Patellar tendinopathy (‘jumper’s knee’)

Method for special sign—patella grind test
‘Jumper’s knee’, or patellar tendinopathy (see FIG. 56.2 , earlier in this chapter), is a common
See FIGURE 56.18 . disorder of athletes involved in repetitive jumping sports, such as high jumping, basketball,
netball, volleyball and soccer. It probably starts as an inflammatory response around a small tear.
Have the patient supine with the knee extended.
Clinical features
Grasp the superior pole of the patella and displace it inferiorly.
Gradual onset of anterior pain
Maintain this position and apply patellofemoral compression.
Pain localised to below knee (in patellar tendon)
Ask the patient to contract the quadriceps (it is a good idea to get the patient to practise
quadriceps contraction before applying the test). Pain eased by rest, returns with activity
A positive sign is reproduction of the pain under the patella and hesitancy in contracting the Pain with jumping
muscle.
The diagnosis is often missed because of the difficulty of localising signs. The condition is best
diagnosed by eliciting localised tenderness at the inferior pole of the patella with the patella
tilted. There may be localised swelling.
Method
Lay the patient supine in a relaxed manner with the head on a pillow, arms by the side and
quadriceps relaxed (a must).
The knee should be fully extended.
Tilt the patella by exerting pressure over its superior pole. This lifts the inferior pole.
Now palpate the surface under the inferior pole. This allows palpation of the deeper fibres of
the patellar tendon (see FIG. 56.19 ).
Compare with the normal side.
Very sharp pain is usually produced in the patient with patellar tendinopathy.
FIGURE 56.19 Patellar tendinopathy: method of palpation
Management
Early conservative treatment, including rest from the offending stresses, is effective. Referral to a
physiotherapist for exercise-based rehabilitation is appropriate. This includes adequate warm-up
and warm-down. Training modification includes calf, hamstring and quadriceps muscle
stretching. Modified footwear and a patellar tendon strap may be helpful in some cases. The use
of NSAIDs and corticosteroid injections is disappointing. Chronic cases may require surgery.
Page 691
Anserinus tendinopathy/bursitis
Localised tenderness is found over the medial tibial condyle where the tendons of the sartorius,
gracilis and semitendinosus insert into the bone. It is distal to the joint line. It is a common cause
of knee pain in the middle-aged or elderly, especially the overweight woman. Pain is aggravated
by resisted knee flexion.
Semimembranous tendinopathy/bursitis
This inflamed area is sited either at the tendon insertion or in the bursa between the tendon and
the medial head of the gastrocnemius. It is an uncommon problem. The bursa occurs on the
medial side of the popliteal fossa between the medial head of the gastrocnemius and the
semimembranous tendon. It often communicates with the knee joint and, if so, treat knee joint
pathology. If not, one can give an injection of depot triamcinolone or betamethasone.
Biceps femoris tendinopathy/bursitis
The tendon and/or the bursa that lies between the tendon insertion and the fibular collateral
ligament at the head of the fibula may become inflamed due to overuse. It is usually encountered
in sprinters.
Popliteus tendinopathy
Tenosynovitis of the popliteus tendon may cause localised pain in the posterior or the
posterolateral aspect of the knee. Tenderness to palpation is elicited with the knee flexed to 90°.
Iliotibial band syndrome
Inflammation develops over the lateral aspect of the knee where the iliotibial band passes over
the lateral femoral condyle. An inflamed bursa can occur deep to the band. The problem, which
is caused by friction of the iliotibial band on the bone, is common in long-distance runners,
especially when running up and down hills, and in cyclists. It presents with well-localised lateral
knee pain of gradual onset. Palpation reveals tenderness over the lateral condyle 1–2 cm above
the joint line.
Treatment of tendinopathy and bursitis (small area)
Generally (apart from patellar tendinopathy), the treatment is an injection of local anaesthetic
and long-acting corticosteroids into and deep to the localised area of tenderness. In addition, it is
important to restrict the offending activity and refer for physiotherapy for stretching exercises.
Attention to biomechanical factors and footwear is important.
If conservative methods fail for iliotibial tract tendinopathy, surgical excision of the affected
fibres may cure the problem.
 Prepatellar bursitis
Repetitive low-grade direct trauma, such as frequent kneeling, can cause inflammation with
swelling of the bursa, which lies between the anterior surface of the patella and the skin.
‘Housemaid’s knee’, or ‘carpet layer’s knee’, can be difficult to treat if rest from the trauma does
not allow it to subside. If persistent and infection excluded, drain the fluid with a 23 gauge
needle and then introduce 0.5–1 mL of long-acting corticosteroid. The presence of a bursa
‘mouse’ and persistent bursitis usually mean that surgical intervention is required.
Acute bursitis may also be caused by acute infection, or one of the inflammatory arthropathies
(e.g. gout, seronegative spondyloarthropathies). If septic, arrange urgent hospital admission.
Infrapatellar bursitis
‘Clergyman’s knee’ is produced by the same mechanisms as prepatellar bursitis and can be
involved with inflammatory disorders or infection. Treatment is also the same.
Patellar dislocatim
Refer to CHAPTER 124 .
The hamstrung knee
Cross describes this condition in young active sportspeople (second decade)8 as one that causes
bilateral knee pain and possibly a limp. It is caused by a failure to warm up properly and stretch
the hamstring muscles, which become tender and tight during the growth spurt. A 6-week
program of straight leg raising and hamstring stretching will alleviate the pain completely.
Synovial plica syndrome
This syndrome results from a synovial fold (an embryological remnant) being caught between
the patella and the femur during walking or running. It causes an acute ‘catching’ knee pain of
the medial patellofemoral joint (see FIG. 56.2 , earlier in this chapter) and sometimes a small
effusion. It generally settles without treatment.
Page 692
Infrapatellar fat pad inflammation
Hoffa fat pad syndrome follows acute compression of the fat pad, which extends across the lower
patella deep to the patellar tendon and into the knee joint (see FIG. 56.2 , earlier in this chapter),
during a jump or other similar trauma, producing local pain and tenderness similar to the
sensation of kneeling on a drawing pin.19
The pain usually settles without therapy over a period of days or weeks. There is localised
tenderness and it can be confused with patellar tendinopathy.
Osteochondritis dissecans: adult form
The adult form occurs more often in males and may be the result of cysts of osteoarthritis
fracturing into the joint. Up to 30% are bilateral. Symptoms depend on whether the
osteochondral fragment becomes separated. A loose fragment may produce locking or collapse
of the knee.
Loose bodies
The large knee joint is a ‘haven’ for intra-articular loose bodies, which may be formed from
bone, cartilage or osteochondral fragments following injury (‘chip’ fragment), osteochondritis
dissecans, osteoarthritis, synovial chondromatosis or other conditions. They may be
asymptomatic but usually cause clicking or locking with swelling. Diagnosis is by X-ray and
surgical removal is necessary for recurrent problems.
The knee ‘mouse’
This common complaint is usually a result of a pedunculated fibrous lump in the prepatellar
bursa, often secondary to trauma, such as falls onto the knee.
Arthritic conditions
Osteoarthritis
Osteoarthritis is a very common problem of the knee joint. Symptoms usually appear in middle
life or later. It is more common in women, obese people and in those with knee deformities (e.g.
genu varum) or previous trauma, especially meniscal tears. The degenerative changes may
involve either the lateral or the medial tibiofemoral compartment, the patellofemoral joint or any
combination of these sites.
Clinical features
Slowly increasing joint pain and stiffness
Aggravated by activities such as twisting, bending, prolonged walking, standing or squatting
Descending stairs is usually more painful than ascending stairs (suggestive of patellofemoral
osteoarthritis)
Pain may occur after rest, especially prolonged flexion
Minimal effusion and variable crepitus
Restricted flexion but usually full extension
 Often quadriceps wasting and tender over medial joint line Page 693

Diagnosis confirmed by X-ray (weight-bearing view) Rheumatoid arthritis

The knee is frequently affected by rheumatoid arthritis (RA), although it rarely presents as
Management options monoarticular knee pain. RA shows the typical features of inflammation—pain and stiffness that
is worse after resting. Morning stiffness is a feature.
Relative rest
Note: The spondyloarthropathies have a similar clinical pattern to RA.
Weight loss
Synovectomy is a useful option with persistent boggy thickening of synovial membrane but
Analgesics and/or judicious use of NSAIDs
without destruction of the articular cartilage.2
Glucosamine: there is inadequate evidence to support its use21
Baker cyst
Walking aids and other supports
A popliteal cyst (Baker cyst) is a herniation of a chronic knee effusion between the heads of the
Physiotherapy (e.g. hydrotherapy, quadriceps exercises, mobilisation and stretching gastrocnemius muscle and is usually associated with osteoarthritis (most common), rheumatoid
techniques) arthritis or internal derangement of the knee. It presents as a mass behind the knee and may or
may not be tender or painful.
Viscosupplementation: intra-articular injection of hylans improves pain and function
compared to placebo,22 particularly at 5–13 weeks after injection. It tends to fluctuate in size.

Intra-articular injections of corticosteroids are generally not recommended, but a single A Baker cyst indicates intra-articular pathology and indicates a full assessment of the knee joint.
injection for severe pain can be very effective
Rupture may result in pain and swelling in the calf, mimicking DVT.
Surgery is an option for severe pain and stiffness. This includes arthroscopic debridement and
wash out, osteotomy and arthrodesis. Hemiarthroplasty is used especially for the medial Treat underlying knee inflammation (synovitis).
compartment with focal arthritis and varus deformity. Total knee replacement remains the gold
standard for longstanding severe OA (see FIG. 56.20 ) Surgical removal of the cyst is advisable for persistent problems.

Septic arthritis
This tends to be more common in the knee than in other joints. Septic (pyogenic) arthritis should
be suspected when the person complains of intense joint pain, malaise and fever. In the presence
of acute pyogenic infection, the joint is held rigidly. The differential diagnosis includes gout and
pseudogout (chondrocalcinosis). Refer urgently to hospital.

Principles of management
Most painful knee conditions are not serious and, providing a firm diagnosis is made and internal
knee disruption or other serious illness discounted, a simple management plan as outlined leads
to steady relief. For more serious injuries the primary goal is to minimise the adverse
consequences of forced inactivity.

First aid: RICE (avoid heat in first 48 hours).

FIGURE 56.20 Total joint replacement of knee (example)
Lose weight if overweight.
 Adequate support for ligament sprains—supportive elastic tubular (Tubigrip) bandage or a
firm elastic bandage over Velband.
When to refer
Simple analgesics—paracetamol (acetaminophen). Early referral is required for knees ‘at risk’ following acute injuries where one or more of the
following are present:
Judicious use of NSAIDs and corticosteroid injections.
locked knee
Physiotherapy to achieve strength and stability.
haemarthrosis
Attend to biomechanical abnormalities, inappropriate footwear and athletic techniques.
instability
Orthotics and braces to suit the individual patient.
Clinical evidence of a torn cruciate ligament, third degree tear of the collateral Page 694
Specialised exercise techniques (e.g. the McConnell technique).2 ligaments or torn meniscus

Quadriceps exercises: these simple exercises are amazingly effective. Undiagnosed acute or chronic knee pain

Recurrent subluxation or dislocation of the patella

Quadriceps exercises (examples)
Suspected septic arthritis
Instruct the patient to tighten the muscles in front of the thighs (as though about to lift the leg
at the hip and bend the foot back but keeping the leg straight). The patient should hold the Presence of troublesome intra-articular loose body
hand over the lower quadriceps to ensure it is felt to tighten. This tightening and relaxing
exercise should be performed at least 6 times every 2 hours or so until it becomes a habit. It Severe osteoarthritis where knee replacement is being considered
can be done sitting, standing or lying (see FIG. 56.21 ).

Sitting on a chair the patient places a weight of 2–5 kg around the ankle (e.g. a plastic bag Practice tips
with sand or coins in a sock) and lifts the leg to the horizontal and then gently lowers it.
The absence of an effusion does not rule out the presence of severe knee injury.

Examine the hip and lumbosacral spine if examination of the knee is normal but
knee pain is the complaint.

Always think of an osteoid osteoma in a young boy with severe bone pain in a leg
(especially at night) that responds well to aspirin or paracetamol or other NSAID.

Tears of the meniscus can occur, especially in middle age, without a history of
significant preceding trauma.

An audible ‘pop’ or ‘crack’ in the knee with an immediate effusion (in association
with trauma) is an ACL tear until proved otherwise.

Haemarthrosis following an injury should be regarded as an anterior cruciate tear

FIGURE 56.21 A quadriceps exercise: with outstretched legs the quadriceps
muscle is slowly and deliberately tightened by straightening the knee to
position (a) from the relaxed position (b)
until proved otherwise.
The ‘movie theatre’ sign, whereby the patient seeks an aisle seat to stretch the
knee, is usually due to patellofemoral pain syndrome.
The ‘bed’ sign, when pain is experienced when the knees touch while in bed, is
 suggestive of a medial meniscal cleavage tear.
A positive squat test (medial pain on full squatting) indicates a tear of the posterior
horn of the medial meniscus.
Joint aspiration should not be performed on the young athlete with an acute knee
injury.
If an older female patient presents with the sudden onset of severe knee pain,
think of osteonecrosis.
Reserve intra-articular corticosteroid injections for inflammatory conditions such
as rheumatoid arthritis or a crystal arthropathy: regular injections for osteoarthritis
are to be avoided. Do not give the injections when the inflammation is acute and
diffuse or in the early stages of injury.
Many inflammatory conditions around the knee joint, such as bursitis or
tendinopathy, respond to a local injection of local anaesthetic and corticosteroid,
but avoid giving injections into the tendon, especially the patellar tendon.
Keep in mind the technique of autologous cartilage transplantation: in this
technique, cartilage cells (chondrocytes) are taken from the patient, multiplied in a
laboratory and eventually implanted into the damaged area. It can be used for
damage in any major joint, especially the knee, being ideal for osteochondritis
dissecans.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Baker’s cyst
Exercises for your knee
Knee: anterior knee pain
Knee: osteoarthritis
Osgood–Schlatter disorder
References
1 Knox JDE. Knee problems. In: Practice. London: Kluwer-Harrap Handbooks, 1982; 3.66:
1–5.
2 Selecki Y, Helman T. Knee pain: how to treat. Australian Doctor, 22 April 1993: i–viii.
3 McLean I. Assessment of the acute knee injury. Aust Fam Physician, 1984; 13: 575–80.
4 Cyriax J. Textbook of Orthopaedic Medicine, Vol. 1 (6th edn). London: Bailliere Tindall,
1976: 594.
5 Noyes FR. Arthroscopy in acute traumatic haemarthrosis of the knee. J Bone Joint Surg,
1980: 624–87.
6 Shiraev T, Anderson SE, Hope N. Meniscal tear—presentation, diagnosis and
management. Aust Fam Physician, 2012; 41(4): 182–7.
7 Brukner P, Khan K. Clinical Sports Medicine (3rd edn). Sydney: McGraw-Hill, 2007:
506–37.
8 Cross MJ, Crichton KJ. Clinical Examination of the Injured Knee. London: Harper &
Row, 1987: 21–46.
9 Lau L, ed. Imaging Guidelines (4th edn). Melbourne: RAZNC Radiologists, 2001: 200–1.
10 Jackson JL et al. Evaluation of acute knee pain in primary care. Ann Intern Med, 2003;
139(7): 575–88.
11 Larkins P. The little athlete. Aust Fam Physician, 1991; 20: 973–8.
12 Rostrom PKM, Calver RF. Subcutaneous atrophy following methyl prednisolone injection
in Osgood–Schlatter epiphysitis. J Bone Joint Surg, 1979; 61A: 627–8.
13 Wilkins E et al. Osteoarthritis and articular chondrocalcinosis in the elderly. Ann Rheum
Dis, 1983; 42(3): 280–4.
14 Rush J. Spontaneous osteonecrosis of the knee. Current Orthopaedics, 1999; 13: 309–14.
15 Edwards E, Miller R. Management of acute knee injuries. Medical Observer, 17 March
2000: 67–9.
16 Palmer JS et al. Surgical interventions for symptomatic mild to moderate knee
osteoarthritis. Cochrane Database of Syst Rev, 2019; Issue 7.
17 Monk P et al. The urgent need for evidence in arthroscopic meniscal surgery. Am J Sports
Med, 2017 March; 45(4): 965–73.
18 Frobell RB et al. Treatment for acute anterior cruciate ligament tear: five year
outcome of randomised trial. BMJ, 2013; 346: f232.
Page 695
19 Fricker P. Anterior knee pain. Aust Fam Physician, 1988; 17: 1055–6.
20 Van der Heijden RA et al. Exercise for treating patellofemoral pain syndrome. Cochrane
 Database Syst Rev, 2015; (1): CD010387. Page 696

21 Rheumatology [published 2017]. In Therapeutic Guidelines [digital]. Melbourne:

Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed October 2019.

22 Bellamy N et al. Viscosupplementation for the treatment of osteoarthritis of the knee.

Cochrane Database of Syst Rev, 2006; Issue 2. 57 Pain in the foot and ankle

The victim goes to bed and sleeps in good health. About two o’clock in the morning he is
awakened by a severe pain in the great toe; more rarely in the heel, ankle, or instep … The part
affected cannot bear the weight of the bed clothes nor the jar of a person walking in the room.
The night is spent in torture.

THOMAS SYDENHAM (1624–1689) ON GOUT

Pain in the foot (podalgia) and ankle problems are common occurrences in general practice.
Various characteristics of the pain can give an indication of its cause, such as the description of
gout by Thomas Sydenham. There are many traumatic causes of podalgia and ankle dysfunction,
especially fractures and torn ligaments, but this chapter will focus mainly on everyday problems
that develop spontaneously or through overuse. Forefoot pain is common, especially in the
elderly. The forefoot comprises the toes to the middle of the metatarsals and all of the supporting
structures. Metatarsalgia is a term used to describe pain in the distal aspect of one or more of the
metatarsal bones during weight-bearing.1

Key facts and checkpoints

Foot deformities such as flat feet (pes planus) are often painless.

Foot strain (broadly: overuse injuries) is probably the commonest cause of

podalgia.2

A common deformity of the toes is hallux valgus, with or without bunion formation.

Osteoarthritis is a common sequel to hallux valgus.

Osteoarthritis affecting the ankle is relatively uncommon.

All of the distal joints of the foot may be involved in arthritic disorders.

Many foot and ankle problems are caused or exacerbated by unsuitable footwear
and lack of foot care.

Ankle sprains are the most common injury in sport, representing about 25% of
 injuries. Ruptured tibialis posterior tendon

Severe sprains of the lateral ligaments of the ankle due to an inversion force may Pitfalls (often missed)
be associated with various fractures. Foreign body (esp. children)
Bunions and hammer toes are generally best treated by surgery. Gout
Morton neuroma
Tarsal tunnel syndrome
Deep peroneal nerve entrapment
A diagnostic approach Chilblains
Stress fracture (e.g. navicular)
A summary of the diagnostic strategy model is presented in TABLE 57.1 .
Erythema nodosum
Rarities:
Table 57.1 The painful foot and ankle: diagnostic strategy model spondyloarthropathies
osteochondritis: navicular (Köhler), metatarsal head (Freiberg), calcaneum
Probability diagnosis (Sever)
Acute or chronic foot strain glomus tumour (under nail)
Sprained ankle Paget disease
Osteoarthritis (esp. great toe) Seven masquerades checklist
Plantar fasciitis Depression (?)
Achilles tendinopathy Diabetes
Tibialis posterior tendinopathy Drugs
Wart, corn or callus Spinal dysfunction
Ingrowing toenail/paronychia
Is the patient trying to tell me something?
Serious disorders not to be missed
A non-organic cause warrants consideration with any painful condition.
Vascular insufficiency:
small vessel disease
Neoplasia: Probability diagnosis
osteoid osteoma
osteosarcoma Common causes include osteoarthritis, especially of the first metatarsophalangeal (MTP) joint,
synovial sarcoma acute or chronic foot strain, plantar fasciitis, plantar skin conditions such as warts, corns and
calluses and various toenail problems.
Severe infections (rare):
septic arthritis
actinomycosis
Serious disorders not to be missed
osteomyelitis The very important serious disorders to consider include:
Rheumatoid arthritis
Peripheral neuropathy vascular disease—affecting small vessels
Complex regional pain syndromes diabetic neuropathy
Ruptured Achilles tendon
 osteoid osteoma Diagnosis is dependent on clinical suspicion and then X-ray, which shows a small sclerotic
lesion with a radiolucent centre. Treatment is by surgical excision.
rheumatoid arthritis

complex regional pain syndrome I Pitfalls

There are many traps in the diagnosis and management of problems presenting with a painful
Vascular causes foot. Common problems require consideration—these include gouty arthritis, chilblains, a stress
The main problem is ischaemic pain that occurs only in the foot. The commonest cause is fracture and a foreign body in the foot, especially in children. Nerve entrapment, as outlined in
CHAPTER 55 , is uncommon but Morton neuroma is reasonably common.
atheroma. Vascular causes include:

acute arterial obstruction Less common disorders include complex regional pain syndrome, which is often misdiagnosed,
the spondyloarthropathies (psoriasis, reactive arthritis, ankylosing spondylitis and the
chilblains inflammatory bowel disorders) and osteochondritis of the calcaneus, navicular bone and
metatarsal head. If there is an exquisitely tender small purple–red spot beneath a toenail, a
atherosclerosis, especially small vessel disease glomus tumour (a benign hamartoma) is the diagnosis. It is worth noting that most of these
conditions are diagnosed by X-rays.
functional vasospasm (Raynaud)—rare
General pitfalls
Symptoms:
Failing to order X-rays of the foot.
Claudication (rare in isolation)
Failing to order X-rays of the ankle following injury.
Sensory disturbances, especially numbness at rest or on walking
Failing to appreciate the potential for painful problems caused by diabetes—neuropathy and
Rest pain—at night, interfering with sleep, precipitated by elevation, relieved by dependency small vessel disease.

For treatment refer to CHAPTER 55 . Neglecting the fact that most of the arthritides can manifest in joints in the foot, especially the
forefoot.
Complex regional pain syndrome I
Regarding the sprained ankle in adults and children as an innocuous injury: associated injuries
Also known as reflex sympathetic dystrophy or Sudeck atrophy, regional pain syndrome is include chondral fractures to the dome of the talus, impaction fractures around the medial
characterised by severe pain, swelling and disability of the feet. It is a neurovascular disorder recess of the ankle, avulsion fractures of the lateral malleolus and base of fifth metatarsal.
resulting in hyperaemia and osteoporosis that may be a sequela of trauma (often trivial) and
prolonged immobilisation. Complex regional pain syndrome I usually lasts 2 years and recovery Misdiagnosing a stress fracture of the navicular which, like the scaphoid fracture, Page 698

to normality usually follows.
The clinical features include sudden onset in middle-aged patients, pain worse at night, Page 697
stiff joints and skin warm and red. X-rays that show patchy decalcification of bone are
diagnostic. Treatment includes reassurance, analgesics, mobility in preference to rest, and
physiotherapy.
Osteoid osteoma
Osteoid osteomas are rare but important little ‘brain teasers’ of benign tumours that typically
occur in older children and adolescents. Males are affected twice as often as females. Any bone
(except those of the skull) can be affected but the tibia and femur are the main sites. Nocturnal
pain is a prominent symptom with pain relief by aspirin being a feature.
causes delayed union and non-union. Cast immobilisation for 8 weeks initially may
prevent the need for surgery.
Misdiagnosing a complete rupture of the Achilles tendon because the patient can plantar flex
the foot.
Overlooking tibialis posterior tendinopathy as a cause of ankle pain.
Seven masquerades checklist
The checklist has four conditions that should be considered, especially diabetes and spinal
dysfunction. Diabetes may be responsible for a simple type of atherosclerotic pattern, possibly
complicated by infection and ulceration. The neuropathy of diabetes can cause a burning pain
with paraesthesia. It has a ‘sock’-type pattern as opposed to the dermatome pattern of nerve root Is pain also present in other joints, thus indicating the foot pain is part of a polyarthritis, such
pressure arising from the lumbosacral spine. The common S1 pain is experienced on the outer as rheumatoid arthritis?
border of the foot, into the fifth toe and on the outer sole and heel of the foot.
Is the problem related to unsuitable footwear?
Drugs and anaemia could indirectly cause pain through vascular insufficiency. The drugs that
could cause vasospasm include beta blockers and ergotamine. An alcoholic neuropathy also has Does the nature of the pain point to the cause?
to be considered.
throbbing pain → inflammation

burning pain → nerve entrapment, diabetic neuropathy or regional pain syndrome

Red flag pointers for foot pain
severe episodic pain → gout
Pain in forefoot disturbing sleep
pain worse at night → ischaemia (small vessel disease), regional pain syndrome, cramps or
Fever and systemic illness with bone pain osteoid osteoma

Localised tenderness away from heel in child pain worse at night, relieved by aspirin → osteoid osteoma

‘Burning’ feet pain worse on standing after sitting and getting out of bed → plantar fasciitis

For ankle injuries it is important to ask about the nature of the injury:

Psychogenic considerations Did the foot twist in (invert) or twist out (evert)?

Any painful condition can be closely associated with psychogenic disorders, including Was the foot pointing down or up at the time of injury?
depression.
Point with one finger to where it hurts (the finger-pointing sign).
The clinical approach What happened immediately after the injury?

Were you able to walk straight away?

History
What happened when you cooled off?
This is very important, as always, since various characteristics of the pain can give an indication
of its cause. Questions should address the quality of the pain, its distribution, mode of onset, If there has been a fall onto the foot from a height, consider the possibility of a fracture of the
periodicity, relation to weight-bearing and associated features such as swelling or colour change. calcaneus or talus or disruption of the syndesmosis between the tibia and fibula. Also check the
It is relevant to enquire about pain in other joints such as the hand and spine, including the lumbar spine.
sacroiliac joints, which might indicate that the foot pain is part of a polyarthritis. A history of
diarrhoea, psoriasis, urethritis or iritis may suggest that one of the spondyloarthropathies has to
be excluded.
Examination

Key questions Inspection

Inspect the feet with the patient standing, sitting, walking (in shoes and barefooted) and lying
The practitioner should address the following questions:
down (note plantar surfaces). Inspect the footwear (normally, a shoe wears first on the outer
Does the pain arise from a local condition or is it part of a generalised disease? posterior margin of the heel).

Is there a history of psoriasis, chronic diarrhoea or colitis, urethritis or iritis? Note: Page 699
 any gait abnormalities, including limping and abnormal toe in or toe out FIGURE 57.1 Dorsiflexion and plantar flexion of the ankle joint
deformities, such as hammer toes, bunions—medial (hallux valgus) and lateral (Tailor bunion)
—and claw toes

swellings, including callosities

muscle wasting

skin changes and signs of ischaemia

Palpation
Systematic palpation is very useful as most structures in the foot are accessible to palpation.
FIGURE 57.2 Testing inversion and eversion of the hindfoot
Movements (active and passive)
The joints to test are:

ankle (talar) joint

hindfoot (subtalar) joint

midfoot (midtarsal) joint

Movements
Plantar flexion (normal—50°) and dorsiflexion (20°) of foot (see FIG. 57.1 )

Inversion and eversion of hindfoot (mainly subtalar joint)—hold heel and abduct and adduct
(see FIG. 57.2 )
FIGURE 57.3 Testing eversion and inversion of the forefoot
Inversion and eversion of forefoot (midtarsal joint)—hold heel in one hand to fix hindfoot,
hold forefoot in the other and abduct and adduct (rotation movement) (see FIG. 57.3 )
Special tests
Test other joints individually (e.g. MTP, midtarsal)
Achilles tendon, including calf squeeze (Thompson or Simmond test)

Compress MTP joints from above and below

Compress metatarsals mediolaterally between thumb and forefinger

Press upwards from sole of foot just proximal to third and fourth MTP joints—Morton test

Check circulation—test dorsalis pedis and posterior tibial pulses

Neurological examination, including tests for L4, L5 and S1 nerve root function
Investigations osteochondritis/aseptic necrosis

osteochondritis dissecans of talus (in adolescents)

The choice of investigations depends on the clinical features elicited by the history and
examination. Select from the following list:
pitted keratolysis and juvenile plantar dermatosis (adolescents)
for systemic diseases: stress fractures
blood glucose
Think of osteoid osteoma in children with night pain.
RA tests
Osteochondritis/aseptic necrosis
ESR/CRP
Three important bones to keep in mind are:
HLA-B27
the calcaneum—Sever disease
serum uric acid Page 700
the navicular—Köhler disease
radiology:
the head of the second metatarsal—Freiberg disease
X-ray ± stress and weight-bearing views
Sever disease is traction osteochondritis, while the other disorders are a ‘crushing’
radionuclide scans (for bone or joint pathology) osteochondritis with avascular necrosis.

CT or MRI (especially helpful) scans

ultrasound (operator dependent)
nerve conduction studies
Note: High-resolution ultrasound is used to diagnose disorders of the Achilles and posterior
tibialis tendons and to locate foreign bodies such as splinters of wood and glass.
Sever disease of the heel
This is calcaneal apophysitis, which presents in a child (usually a boy) aged 7–15 years (average
of 10 years) with a painful tender heel at the insertion of the tendoachilles. It is diagnosed by X-
ray. The only treatment is to ensure that the child avoids wearing flat-heeled shoes and wears a
slightly raised heel. Strenuous sporting activities should be restricted for 12 weeks and then
reviewed.

Radionuclide scanning may detect avascular necrosis in bones, stress fractures, osteoid osteomas,
inflammatory osteoarthritis and similar lesions.3
Foot and ankle pain in children
Apart from the common problem of trauma, special problems in children include:
Köhler disease of the navicular
This disorder causes a painful limp (usually mild) with some swelling and tenderness around the
navicular in a child (usually a boy) aged 3–6 years, although it is seen sometimes in older
children. Complete recovery occurs with temporary rest. Sometimes supportive strapping is
helpful.

foreign bodies in the foot Freiberg disease

tumours (e.g. osteoid osteoma, osteosarcoma, Ewing tumour) This problem affects the head of the second metatarsal (rarely the third), which feels tender and
swollen on palpation. It is more common in girls aged 12–16 years and can present in young
plantar warts adults as pain aggravated by standing on the forefoot. Plain X-ray shows the characteristic
collapse of the metatarsal head. The treatment is restriction of activity, protective footwear and
osteomyelitis/septic arthritis protective padding.
ingrowing toenails
Sprained ankle in a child Difficulty in weight-bearing

Children rarely sprain ligaments so it is important to assess apparent strains carefully, including Discomfort varies from mild to severe
an X-ray looking for an avulsion fracture.
Bruising (may take 12–24 hours) indicates more severe injury
The little athlete May have functional instability: ankle gives way on uneven ground
The ‘little athlete’ can suffer a variety of injuries from accidents and overuse. Diffuse heel pain,
which is common, is most often related to Sever apophysitis of the calcaneum. Occasionally, a Physical examination
juvenile-type plantar fasciitis may occur. Little athletes can develop tendinitis around the ankle,
either on the lateral side (peroneals) or medially (tibialis posterior). Occasionally, a stress Perform as soon as possible:
fracture of the metatarsals or other bones can occur.4 Special attention must be paid to any note swelling and bruising
developmental structural abnormalities and to footwear.
palpate over bony landmarks and three lateral ligaments
General foot and ankle problems test general joint laxity and range of motion

Foot and ankle problems in the elderly a common finding is a rounded swelling in front of the lateral malleolus (the ‘signe de la
coquille d’oeuf’)
Foot problems are more prevalent in old age. Some are due to a generalised disease, such as
diabetes or peripheral vascular disease, while others, such as bunions, hammer toes, calluses and test stability in AP plane (anterior draw sign)
corns, atrophy of the heel fat-pad and Morton neuroma, increase with ageing. The transverse
arch may flatten out and the protective pads under the metatarsals may atrophy, resulting in Table 57.2
painful callosities. Classification of ankle sprains

Unfortunately, many elderly people regard foot problems as a normal process but these Page 701 Grade Functional/clinical Ligamentous stability
problems actually require considerable care and attention, especially in the presence of I (mild) Minimal pain and swelling Minor ligamentous injury with only a
peripheral vascular disease, diabetes or rheumatoid arthritis. Deformed toenails Minimal bleeding partial tear of the ligament
(onychogryphosis) are also common albeit not a painful condition. Full range of motion heel Stable ankle joint
and toe walking Normal stress X-ray
Flat foot occurring in middle age is usually due to stretching or rupture of the tibialis posterior
tendon.5 II Moderate to severe pain Similar to grade I only more severe
(moderate) and swelling Partially unstable joint
Considerable bleeding Stress X-ray: anterior draw 4–14 mm,
Sprained ankle Decreased range of talar tilt 5–10°
motion
Two main ankle ligaments are subject to heavy inversion or eversion stresses, namely the lateral
Difficulty in weight-bearing
ligaments and the medial ligaments respectively. Most of the ankle ‘sprains’ or tears involve the
and ambulation
lateral ligaments (up to 90%) while the stronger, tauter medial (deltoid) ligament is less prone to
injury. It is important not to misdiagnose a complete rupture of the lateral ligaments. III (severe) Minimal to severe pain Complete ligamentous rupture with
and swelling unstable joint
Most sprains occur when the ankle is plantar flexed and inverted, such as when landing Pronounced bleeding Stress X-ray: anterior draw >15 mm,
awkwardly after jumping or stepping on uneven ground. It is a very common sporting injury. Minimal range of motion talar tilt >20°
Unable to weight-bear
Clinical features (sprained lateral ligaments)
Ankle ‘gives way’ Source: Adapted from Litt8
Is there an underlying fracture? inability to weight-bear immediately after injury and when seen

For a severe injury the possibility of a fracture—usually of the lateral malleolus or base of fifth
metatarsal—must be considered. If the patient is able to walk without much discomfort straight
after the injury a fracture is unlikely. X-ray according to the Ottawa ankle rules.
Indications for X-ray include:6
Management
The treatment of ankle ligament sprains depends on the severity of the sprain. Most grade I and
II sprains respond well to standard conservative measures and regain full, pain-free movement in
1–6 weeks, but controversy surrounds the most appropriate management of grade III sprains.

inability to weight-bear immediately after injury A 2002 Cochrane Systematic Review revealed that functional recovery for grade III strains was
quicker in those treated by rehabilitation compared with surgery.9
marked swelling and bruising soon after injury
Grade I–II sprains
marked tenderness over the bony landmarks

marked pain on movement of the ankle R = Rest the injured part for 48 hours, depending on disability

crepitus on palpation or movement

I = Ice pack for 20 minutes every 3–4 hours when awake for the first 48 hours
point tenderness over the base of the fifth metatarsal

special circumstances (e.g. litigation potential) C = Compression bandage (e.g. crepe bandage)

Ottawa rules for ankle and foot X-ray7 E = Elevate to hip level to minimise swelling
These rules are a quick and reliable method of selecting which patients with ankle and foot
injuries need X-rays to exclude a fracture. A = Analgesics (e.g. paracetamol ± codeine)

Ankle injury
R = Review in 48 hours, then 7 days
An X-ray of the ankle is necessary when the patient has pain over the medial or lateral malleolar
zone and any one of the following findings:
S = Special strapping
there is bone tenderness on palpation of the distal 6 cm of the fibula (posterior tip of lateral
malleolus)
Use partial weight-bearing with crutches for the first 48 hours or until standing is no longer
there is bone tenderness on palpation of the distal 6 cm of the tibia (posterior tip of Page 702 painful, then encourage early full weight-bearing and full range of movement. This can be
medial malleolus) followed by isometric exercises.10 Use warm soaks, dispense with ice packs after 48 hours.
Walking in sand (e.g. along the beach) is excellent rehabilitation. Aim towards full activity by 2
there was an inability to bear weight (walk four steps) both immediately after injury and weeks.
during the clinical examination
Grade III sprains
Foot injury
Initial management includes RICE (as above), analgesics and an X-ray to exclude an associated
Refer for a foot X-ray (suspected midfoot fracture) if there is pain in the midfoot and any one of: fracture. Refer the patient with a complete ankle tear.

bone tenderness at fifth metatarsal base

Red flag
bone tenderness at the navicular bone
 Be aware of the serious Lisfranc ligament disruption of the forefoot.

Heel pain
Important causes of heel pain in adults (see FIG. 57.4 )11 include:

Achilles tendon disorders:

tendinopathy/peritendinitis

bursitis: postcalcaneal, retrocalcaneal

tendon tearing: partial, complete

bruised heel

tender heel pad: Page 703

usually atrophy FIGURE 57.4 Important causes of the painful heel

also inflammation Ultrasound examination is useful to differentiate the causes of Achilles tendon disorders.

neuropathies (e.g. diabetic, alcoholic)

Achilles tendinopathy11
tenosynovitis (FHL, FDL)
The pathology is a combination of degenerative and inflammatory changes due to overuse and
‘pump bumps’—exostoses near achilles insertion due to stiff backs of shoes may occur either in the tendon itself or in the surrounding paratendon. It presents with tendon
pain during and after weight-bearing activities with a tender local swelling of the tendon. The
plantar fasciitis latter is called peritendinitis rather than tenosynovitis because there is no synovial sheath.

periostitis Management
calcaneal apophysitis Relative rest
peroneal tendon dislocation Course of NSAIDs for acute pain
nerve entrapments Heel padding
tarsal tunnel Consider heel ‘raisers’
medial calcaneal nerve Consider continuous topical glyceryl trinitrate as patches
nerve to abductor digiti minimi Physiotherapy for stretching and an eccentric exercise program11

Physiotherapy
 Complete rupture of Achilles tendon11 FIGURE 57.5 Calf squeeze test for ruptured Achilles tendon: (a) intact tendon,
normal plantar flexion, (b) ruptured tendon, foot remains stationary
Clinical features
Treatment
Sudden onset of intense pain
Early surgical repair (within 3 weeks)
Person usually falls over

Feels more comfortable when acute phase passes Partial rupture

Development of swelling and bruising Similar history and clinical findings. Localised tenderness and very tender defect about the size
of the tip of the finger.
Some difficulty walking, especially on tiptoe
Refer for evaluation—if gap, early surgical exploration and repair. Conservative treatment if no
Diagnosis gap, including heel raise and crutches early.

Palpation of gap (best to test in first 2–3 hours as haematoma can fill gap) Achilles tendon bursitis
Positive Thompson test: compression of the calf muscles reveals an absent plantar reflex on Bursitis can occur at two sites:
the affected side (kneel on chair facing backwards)
posterior and superficial—between skin and tendon

deep (retrocalcaneal)—between calcaneus and tendon (see FIG. 57.4 )

The former occurs mainly in young women from shoe friction and is readily palpated.
Tenderness from the deep bursitis is elicited by squeezing in front of the tendon with the thumb
and index finger: a swelling may be seen bulging on either side of the tendon.

Page 704
Treatment
Avoid shoe pressure (e.g. wear sandals)

1–2 cm heel raise inside the shoe

Apply local heat and ultrasound

NSAIDs

Inject corticosteroid into bursa with a 25 gauge needle

Fat pad disorders

A tender heel pad or cushion causes a dull throbbing pain under the heel. It is localised more
proximal to that of plantar fasciitis. Once established, it is very difficult to treat.

The fat pad, which consists of globules of fat encapsulated in multiple U-shaped septa, acts as a
hydraulic shock absorber on heel strike. It also contains significant nerve endings.11 It can Signs12
undergo atrophy, especially in the elderly, and also become inflamed.
Tenderness:
Treatment
localised to medial tuberosity
Reduction of aggravating activity
may be more posterior
Weight loss (if applicable)
may be lateral
Simple analgesics
may be widespread
Orthotic (cushioning heel cup) ± foam insert
not altered by tensing fascia (but this action may cause pain)
Good footwear
Heel pad may bulge or appear atrophic
Problems are treated with an orthotic or an insert and good footwear. Corticosteroids should be
avoided as they can accelerate the atrophy.12 Crepitus may be felt

No abnormality of gait, heel strike or foot alignment

Plantar fasciitis
Patient often obese
This common condition (also known as ‘policeman’s heel’) is characterised by pain of gradual
onset on the plantar aspect of the heel, especially on the medial side; it usually occurs about 5 cm Treatment
from the posterior end of the heel, although it can be experienced over a wide area beneath the
heel. The pain radiates into the sole. Plantar fasciitis not associated with one of the spondyloarthritides tends to heal spontaneously in
12–24 months. It has a variable response to treatment with NSAIDs, injections, ultrasound and
Clinical features insoles. Rest from long walks and from running is important. Systematic reviews to date indicate
that taping is effective for short-term relief. Plantar fascia-stretching exercises, when combined
Pain: with prefabricated insoles and a short course of NSAIDs, are effective for short-term and long-
term pain relief.7 Another systematic review supports a conservative approach based on
under the heel maximising comfort during the 3-month period of considerable discomfort.9
first steps out of bed
Protection
relieved after walking
Symptomatic relief is obtained by protecting the heel with an orthotic pad to include the heel and
increasing towards the end of the day arch of the foot (e.g. Rose insole). Otherwise, a pad made from sponge or sorbo rubber that
raises the heel about 1 cm is suitable. A hole corresponding to the tender area should be cut out
worse after sitting of the pad to avoid direct contact with the sole. The aim is to get all of the foot to take the stress.

May be bilateral—usually worse on one side Injection technique

Typically over 40 years Disabling plantar fasciitis can be treated by injecting local anaesthetic and long-acting
corticosteroid into the site of maximal tenderness in the heel. However, a Cochrane review
Both sexes suggested minimal benefit, and only for the first month.13 The injection is painful: an alternative
is to inject the corticosteroid after a posterior tibial nerve block.
Sometimes history of injury or overuse

Few studies have investigated relationship to footwear ‘Cracked’ heels

 Soak feet for 30 minutes in warm water containing an oil such as Alpha Keri or Derma Oil. Osteoarthritis may occur in any of the joints of the foot, but it commonly involves the first MTP
joint, leading to hallux rigidus. It can affect the subtalar joint, but the ankle joint proper is usually
Pat dry, then apply a cream such as Nutraplus (10% urea) or Eulactol heel balm. Use not affected by osteoarthritis.
hydrocortisone 0.5% cream for resistant cases.

For severe cases, use sorbolene cream with 20% glycerol and 30% urea (test skin sensitivity Hallux rigidus
first).
Osteoarthritis of the first MTP joint can lead to gradual loss of motion of the toe and
Page 705 considerable discomfort. Roomy protective footwear and relative rest is the basis of treatment,
coupled with daily self-mobilisation (stretching toe into plantar flexion morning and night).
Arthritic conditions Other measures include manipulation under general anaesthesia or surgery (arthrodesis or
arthroplasty) for severe cases.
Arthritis of the foot or ankle is a rather meaningless diagnosis and specificity is required. Typical
sites of arthritic targets are shown in FIGURE 57.6 . Rheumatoid arthritis
Rheumatoid arthritis is typically a symmetrical polyarthritis presenting with pain in the MTP
joints. It may also affect the ankle, midtarsal and tarsometatarsal joints. The interphalangeal
joints are seldom affected primarily. It causes pain and stiffness under the balls of the feet,
especially first thing in the morning.

Gout
Gout typically affects the first MTP and should be considered with the sudden onset of pain,
especially in the presence of redness, swelling and tenderness. It can affect any synovial joint
and occasionally may be polyarticular. Gout is often dismissed by the patient as a ‘sprain’. A
history of alcohol consumption or diuretic treatment is relevant (see CHAPTER 25 ).

Spondyloarthritides
This group of arthritic disorders (reactive arthritis, ankylosing spondylitis, psoriatic arthritis and
arthritides associated with chronic bowel disorders) may involve peripheral joints. Other foot
involvement includes plantar fasciitis, Achilles tendinitis and sausage-shaped toes due to
tenosynovitis, and arthritis of the proximal interphalangeal joints.

General foot disorders

‘Burning’ feet
It is not uncommon for people, especially the elderly, to present with the complaint of ‘burning’
feet. A careful history is needed to elicit exactly what they mean by ‘burning’—is it real pain, a
FIGURE 57.6 Typical sites of arthritic causes of podalgia on skeleton of right cold sensation or paraesthesia?
foot (plantar aspect)
A checklist of causes is as follow:

Osteoarthritis vascular: ischaemic rest pain from small vessel disease, chilblains or other cold reaction,
 functional vasospasm (Raynaud phenomenon)

diabetic neuropathy

tarsal tunnel syndrome (see CHAPTER 55 )

complex regional pain syndrome I or II

Morton neuroma (localised pain between toes)

psychogenic, especially anxiety

It is worth considering tarsal tunnel syndrome if there is anterior burning pain in the forefoot
with associated aching in the calf. It is usually present in menopausal women and worse at night.
It is caused by entrapment of the posterior tibial nerve near the medial malleolus, and may be
associated with rheumatoid arthritis. Treat with physiotherapy, a medial arch support and a
corticosteroid injection before contemplating surgery.

Page 706

Foot strain
Foot strain is probably the commonest cause of podalgia. A foot may be strained by abnormal
stress, or by normal stress for which it is not prepared. In foot strain, the supporting ligaments
become stretched, irritated and inflamed. It is commonly encountered in athletes who are
relatively unfit or have a disorder such as flat feet, or in obese adults.

Symptoms and signs

Aching pain in foot and calf during or after prolonged walking or standing
Initial deep tenderness felt on medial border of plantar fascia (see FIG. 57.7
Worse with new shoes, especially a change to high heels
FIGURE 57.7 Typical sites of important causes of podalgia (other than
arthritis): right foot
)
Acute foot strain
Acute ligamentous strain, such as occurs to the occasional athlete or to the person taking long
unaccustomed walks. It is usually self-limiting and recovers rapidly with rest.

Chronic foot strain

Foot strain will become chronic with repeated excessive stress or with repeated normal stress on
a mechanical abnormality. A common consequence is an everted foot, leading to flattening of the
longitudinal arch on weight-bearing. It is important to establish whether the symptoms
commenced after the patient began wearing a different type of footwear.

Treatment
The treatment is basically the same as that of the adult flat foot. Acute strain is treated with rest
and by reducing walking to a minimum. Try the application of cold initially and then heat. The
management of chronic strain is based on an exercise program and orthotics, including arch
supports, to correct any deformity.
Aching feet
Avoid wearing high heels.
Wear insoles to support the foot arch.
Perform foot exercises.
Soak the feet in a basin of warm water containing therapeutic salts (Epsom salts is suitable).
Massage feet with baby oil followed by a special ribbed wooden foot massager.
Flat feet (pes planus)
Flat feet are normal in young children. No treatment is required in flat feet in which the arch is
restored by standing on tiptoe (see CHAPTER 85 ). If painful, treat with exercises and insoles.
Refer if concerned. Hind foot fusion can be performed for severe pain.
Claw foot (pes cavus)
High foot arch is usually of congenital origin. It may be secondary to various neurological
conditions (and previously polio). The foot is inflexible and the toes may be ‘hammer’ or
clawed. Treatment includes special orthotics with good shock-absorbing properties, appropriate
footwear, foot exercises and padding under the metatarsal heads. Operative treatment involves
soft tissue release or arthrodesis to strengthen toes.
Disorders of the ankle tendons
Inflammation of a tendon sheath surrounding the ankle may result from repetitive overuse,
trauma such as a sprained ankle or unaccustomed stress, including sporting injuries.
Tenosynovitis commonly involves the tibialis posterior tendon over the medial compartment or
the peroneal tendons over the lateral compartment. It may also affect the tibialis anterior and
extensor digitorum longus tendons. Friction at the point where the tendons become angulated at
the ankle causes the inflammation. The patient presents with pain, swelling and restricted
movement. On examination there is swelling and tenderness where the tendon bulges out from
behind and below the malleolus.
If necessary, the diagnosis can be confirmed by ultrasound or MRI imaging. Page 707
Complications include tenovaginitis, weakness, ganglion formation, subluxation or dislocation
and rupture.
Treatment of tendinitis includes partial immobilisation (rarely in a cast) or an orthotic device to
support the arch of the foot.
A carefully directed injection of corticosteroid into the tendon sheath can be very effective.
Peroneal tendinitis
This occurs along the course of the tendon from behind the lateral malleolus to the outer side of
the foot and is common in athletes and ballet dancers. Pain is reproduced on palpation, on
stretching the tendons by passive inversion of the foot or by resisting eversion of the foot.
Peroneal tendon dislocation
This is most commonly a dislocated leg tendon as a result of forceful dorsiflexion. An audible
painless snapping sensation may be experienced. Surgical repair is necessary.
Tibialis posterior tendinopathy
This is a common problem, especially in middle-aged females, in ballet dancers and in those
with pes planus with a valgus deformity. The tendon (see FIG. 57.8 ), which is an invertor of
the foot, is attached to the navicular tuberosity.14
FIGURE 57.8 Medial aspect of the foot illustrating tendon disorders:
tendinopathy of tibialis anterior and tibialis posterior
Clinical features11,14
Pain and a feeling of weakness in the medial ankle and foot
Pain aggravated by standing and walking
Standing on toes is painful and difficult
Pain on palpation anterior and inferior to the medial malleolus
 Pain on stretching into eversion, and resisted active inversion
May cause tarsal tunnel syndrome
Diagnosis
Ultrasound examination—but MRI is the gold standard for delineating tendon tears and
inflammation.15
Treatment
This is basically conservative with a good outcome in 12–24 months.
Orthotic correction (bilateral) with semi-rigid orthosis to support faulty arch
Exercises under physiotherapist guidance
Remedial massage
Consider ultrasonic guided injection of corticosteroids into tendon sheath (but best avoided) and
a surgical opinion for failed conservative management.
Tibialis posterior tendon dislocation
This can occur with forceful ankle dorsiflexion and inversion. The patient usually experiences
pain and cannot weight-bear. The dislocated tendon may be seen overlying the medial malleolus.
Immediate surgical repair is recommended.
Tibialis posterior tendon rupture
Rupture of the tibialis posterior tendon after inflammation, degeneration or trauma16 is a
relatively common and misdiagnosed disorder, especially in middle-aged females. It causes
collapse of the longitudinal arch of the foot, leading to a flat foot.5
It is uncommon for patients to feel obvious discomfort at the moment of rupture. They may
subsequently present with the sudden appearance of an ‘abnormal’ flat foot. There is gross
eversion of the foot.
A simple test is the ‘too many toes’ test whereby more toes are seen on the affected side when
the feet are viewed from about 3 m behind the patient.5
The single heel raise test is also diagnostic. The most useful investigation is an ultrasound
examination. Minor cases can be treated conservatively with orthotics, but severe problems
respond well to surgical correction.
Page 708
Sesamoiditis1
The two sesamoids that lie beneath the head of the first metatarsal may develop painful
conditions such as chondromalacia, osteoarthritis and stress fractures. A special ‘sesamoid’ X-
ray assists diagnosis. A painful callus can develop over here in the elderly. Well-designed insoles
are usually effective, as is surgical excision for persistent problems.
Metatarsalgia1
Metatarsalgia is a symptom rather than a disease and refers to pain and tenderness over the
plantar heads of the metatarsals (the forefoot). Causes include foot deformities (especially with
depression of the transverse arch), leading to painful strain, arthritis of the MTP joints, trauma,
Morton neuroma, Freiberg disorder and entrapment neuropathy. However it can occur in normal
feet after prolonged standing.
Depression of the transverse arch results in abnormal pressure on the second, third and fourth
metatarsal heads with possible callus formation. Repetitive foot strain, pes cavus and high heels
may cause a maldistribution of weight to the forefoot.
Treatment involves treating any known cause, advising proper footwear and perhaps a metatarsal
bar. Flat-heeled shoes with ample width seldom cause problems in the metatarsal region.
Stress fractures17
Clinical features
The aches or pains may be slow in onset or sudden
Common in dancers, especially classical ballet, and in unfit people taking up exercise
Examination is often unhelpful: swelling uncommon15
Routine X-rays often unhelpful
A bone scan is the only way to confirm the suspected diagnosis
Basis of treatment is absolute rest for 6 or more weeks with strong supportive footwear
A walking plaster is not recommended
Avulsion fracture of base of fifth metatarsal
Known also as a Jones fracture, it is usually a traumatic fracture but can be a stress fracture and
associated with severe ankle sprains.
March fracture of metatarsal
Stress or fatigue fracture of the forefoot usually involves the neck of the second metatarsal
(sometimes the third). Swelling typically occurs along the bone shaft. X-ray changes are often
delayed. Treat conservatively with support from a firm elastic bandage; avoid painful activities.
Resolution may take many months.

Tarsals, especially navicular

Stress fracture of the navicular, which is a disorder of athletes involved with running sports,
presents as poorly localised midfoot pain during weight-bearing. Examination and plain X-ray
are usually normal. It is a recently recognised serious disorder due to the advent of nuclear bone
scans and CT scans. A protracted course of treatment can be expected.

Calcaneum
Stress fractures of the os calcis usually have an insidious onset. Osteoporosis is a predisposing
factor, as is an increased training program.17

FIGURE 57.9 Morton neuroma: typical site of pain and paraesthenia

Morton neuroma15
Morton interdigital neuroma is probably misdiagnosed more often than any other painful
condition of the forefoot. It is not a true neuroma but a fibrous enlargement of an interdigital
nerve, and its aetiology is still uncertain. It is related to overuse and inappropriate footwear. The
diagnosis is made on clinical grounds. An ultrasound examination may detect a neuroma.
Clinical features
Usually presents in adults <50 years
distribution
Treatment
Early problems are treated conservatively by wearing loose shoes with a low heel and using a
sponge rubber metatarsal pad. An orthosis with a dome under the affected interspace helps to
spread the metatarsals and thus takes pressure off the nerve. Any biochemical abnormalities of
the foot should be corrected. Most eventually require surgical excision, preferably with a dorsal
approach. A corticosteroid injection can be considered.

Four times more common in women ‘Turf toe’

Bilateral in 15% of cases
Commonest between third and fourth metatarsal heads (see FIG. 57.9
(otherwise uncommon)
Severe burning pain (sometimes sharp and shooting) between third and fourth or
second and third toes
Worse on weight-bearing on hard surfaces (standing and walking)
Aggravated by wearing tight shoes
Relieved by taking off shoe and squeezing the forefoot
Localised tenderness between metatarsal heads
This is a sprain of the first metatarsophalangeal joint caused by a forced hyperextension
(occasionally hyperflexion) injury to the joint. It is common in football players and athletes, e.g.
), and second and third
jamming or stubbing the great toe. There is pain, swelling and limitation of movement. Plain X-
rays are unhelpful, but isotopic scans and MRI may help to diagnose the injury.
Page 709
Treatment is conservative with RICE, NSAIDs and relative rest. Surgical intervention may be
required.
Hallux valgus
Hallux valgus with associated bunion formation and splaying of the forefoot is common. It may
be a consequence of poor-fitting footwear.
A bunionette, also caused by pressure, may form over the fifth metatarsal.

Pain, if present, may be due to shoe pressure on an inflamed bunion, a hammer toe, metatarsalgia
or secondary arthritis of the first MTP joint. bleeding points skin at edge

Hallux valgus with bunions should be treated by correcting footwear prior to any surgical
correction. Systematic evidence-based reviews found that preventive orthoses and night splints
were unlikely to be beneficial but absorbable pin fixation was likely to be beneficial.11
Page 710
Hammer toes1
Calluses
Mainly involve the second toe with extended MTP joint, hyperflexed PIP joint and extended DIP
joint. Painful corns will appear over the prominent joint. They respond well to surgery if A callus (see FIG. 57.10 ) is simply a localised area of hyperkeratosis related to some form of
problematic and are not helped by good footwear. pressure and friction. It is very common under the metatarsal heads, especially the second.

Claw toes
Often follows polio. The feature is extended MTP joint, flexion PIP and DIP. Refer for surgical
opinion.

Calluses, corns and warts FIGURE 57.10 Callus

The diagnosis of localised, tender lumps on the sole of the foot can be difficult. The differential
diagnosis of callus, corn and wart is aided by an understanding of their morphology and the Treatment
effect of paring these lumps (see TABLE 57.3 ).
No treatment is required if asymptomatic. Remove the cause. Proper footwear is essential—wide
enough shoes and cushioned pads over ball of foot. Proper paring gives relief, also filing with
Table 57.3 Comparison of the main causes of a lump on the sole of the foot callus files. If severe, apply daily applications of 10% salicylic acid in soft paraffin with regular
paring.
Typical site Nature Effect of paring
Callus Where skin is normally Hard, Normal skin
Corns
thick: beneath heads of thickened skin
A corn (see FIG. 57.11 ) is a small, localised, conical thickening. It is a horny plug of keratin in
metatarsals, heels,
the epidermis. A corn develops in response to chronic irritation, usually over a bony prominence
inframedial side of great
of the foot, e.g. outer distal fifth toe. It is associated with poorly fitting footwear, excessive
toe
activity or faulty intrinsic foot mechanics. It may resemble a plantar wart but gives a different
appearance on paring.
Corn Where skin is normally White, conical Exposes white,
thin: on soles, fifth toe, mass of avascular corn with
dorsal projections of keratin, concave surface
hammer toes flattened by
pressure

Wart Anywhere, mainly over Viral infections, Exposes bleeding points FIGURE 57.11 Corn
metatarsal heads, base of with abrupt
toes and heels; has change from
Treatment
Remove cause of friction and use wide shoes to allow the foot to expand to its full width. Soften
corn with a few daily applications of 15% salicylic acid in collodion or commercial ‘corn
removers’ with salicylic acid and then pare. For soft corns between the toes (usually last toe-
web) keep the toe-webs separated with lamb’s wool or a cigarette filter tip at all times and dust
with a foot powder.

Plantar warts
A plantar wart (see FIGS. 57.12 and 57.13 and CHAPTER 116 ) is more invasive, and paring
reveals multiple small, pinpoint bleeding spots.

FIGURE 57.12 Plantar wart

FIGURE 57.13 Plantar warts on the sole of the foot and toes showing a
mosaic pattern

Methods of removal18
There are many treatments for this common and at times frustrating problem. A good rule is to
avoid scalpel excision, diathermy and electrocautery because of the problem of scarring. One of
the problems with the removal of plantar warts is the ‘iceberg’ configuration—not all the wart
may be removed.

Salicylic acid 17%, lactic acid 17% in collodion: Page 711

apply daily, dry and cover

Liquid nitrogen:

pare wart (either a 21 gauge blade, or a punch biopsy held horizontal to skin and rotated)

apply liquid nitrogen

repeat weekly for up to 3 weeks

Can be painful and the results are often disappointing. 2. Fold the shorter length in half, sticky side out (see FIG. 57.14A ).

Topical chemotherapy: 3. Cut a half-circle at the folded edge to accommodate the wart.

soak feet in warm water, then pare wart (particularly in children) 4. Press this tape down so that the hole is over the wart.

apply Upton’s paste or salicylic acid (up to 27%) gel or cream to wart each night and cover 5. Roll a small ball of the paste in the palm of the hand and then press it into the wart.

review if necessary 6. Cover the tape, paste and wart with the longer strip of tape (see FIG. 57.14B ).

(Upton’s paste comprises trichloroacetic acid 1 part, salicylic acid 6 parts, glycerin 2 parts.)

Topical chemotherapy and liquid nitrogen:

pare wart

apply paste of 70% salicylic acid in raw linseed oil (or wool fat). Do NOT give the jar to
the patient.

occlude for 1 week

pare on review, then apply liquid nitrogen and review

Curettage under local anaesthetic:

pare the wart vigorously to reveal its extent

thoroughly curette the entire wart with a dermal curette

hold the foot dependent over kidney dish until bleeding stops (this always stops
spontaneously and avoids a bleed later on the way home) FIGURE 57.14 Treatment of plantar wart: (a) ‘window’ to fit the wart is cut out
of shoulder of elastic adhesive tape; (b) larger strip covers the wart and
apply 50% trichloroacetic acid to the base
shoulder strip
Occlusion method This paste should be reapplied twice weekly for 2–3 weeks. The reapplication is achieved by
peeling back the longer strip to expose the wart, adding a fresh ball of paste to the wart and then
Occlusion with topical chemotherapy: a method of using salicylic acid alone or in a paste under a recovering with the upper tape.
special occlusive dressing is described.
The plantar wart invariably crumbles and vanishes. If the wart is particularly stubborn, 50%
Equipment salicylic acid can be used.

2.5 cm (width) elastic adhesive tape

30% salicylic acid in Lassar’s paste of plasticine consistency
Method
1. Cut two lengths of adhesive tape, one about 5 cm and the other shorter.
Ingrown toenail (onychocryptosis)
Ingrown toenail is a very common condition, especially in adolescent boys. Although not so
common in adults, it may follow injury or deformity of the nail bed. It is typically located along
the lateral edges of the great toenail and represents an imbalance between the soft tissues of the
nail fold and the growing nail edge. The basic cause is a redundant skinfold. It is exacerbated by
faulty nail trimming, constricting shoes and poor hygiene. A skin breach is followed by
infection, then oedema and granulation tissue of the nail fold.5

Page 712
17
Initial management on presentation
First-line management should be conservative. Gently lift the nail edge and pack moistened
cotton wool soaked in 70% alcohol beneath the nail. Remove any nail spicules. Pack daily until
healed. If bacterial infection, treat with a topical antiseptic, e.g. povidone–iodine 10% ointment
under occlusion. Oral antibiotics will be required for infection such as cellulitis or suppuration.

Treat any granulation tissue with curettage or electrocautery (under local anaesthetic) and/or a
silver nitrate cautery stick.

Prevention
All patients should be instructed on correct foot and nail care. Foot hygiene includes foot baths,
avoiding nylon socks and frequent changes of cotton or wool socks. Cotton wool pledgets can be
placed beneath the nail edge to assist separation.
FIGURE 57.16 The spiral tape method for the ingrowing toenail
It is important to fashion the toenails so that the corners project beyond the skin (see
FIG. 57.15 ). The end of the nail (not the corners) should be cut squarely so that the nail can Treatment—surgical18
grow out from the nail fold. Then each day, after a shower or bath, use the pads of both thumbs
to pull the nail folds as indicated. 1. Excision of ellipse of skin. This ‘army method’ transposes the skinfold away from the nail. The
skin heals, the nail grows normally and the toe retains its normal anatomy.

2. Electrocautery. This is similar in principle to the preceding method but is simple, quick and
very effective with minimal after-pain, especially for severe ingrowing with much granulation
tissue. Under digital block the electrocautery needle removes a large wedge of skin and
granulation tissue so that the ingrown nail stands free of skin (see FIG. 57.17 ).

3. Skin wedge excision. Another similar method under digital block is to dissect away all the
skinfold adjacent to the nail, starting from the nail base, extending proximally for about 4 mm
and then sweeping around the side of the nail to under its tip, using a 3–4 mm margin all the
way.

FIGURE 57.15 Method of fashioning toenails
Treatment—the spiral tape method18
This simple technique involves the application of strong adhesive tape such as Elastoplast or
Leukosilk 12.5 mm to retract the skin off the ingrowing nail. At first, use the thumb pads, despite
the discomfort, to retract the skin. The tape is then passed around the plantar surface to anchor
the tape in loops around the proximal aspect of the toe (see FIG. 57.16 ). The application of
Friar’s Balsam to the distal ‘anchor’ gives a better grip. This process is repeated 2–4 times
weekly until the problem settles.
4. Wedge of nail excision and phenolisation. This method uses 80% phenol (concentrated
solution) to treat the nail bed following excision with scissors of a wedge for about one quarter
of the length (rather than a standard wedge resection) of the ingrown nail. A cotton wool stick
soaked in phenol is introduced deep into the space of the nail bed. Warning: Take care not to
spill the phenol onto the surrounding skin as it is very corrosive.
5. Punch biopsy method. Under digital anaesthetic, a punch biopsy instrument of Page 713
adequate size (4, 5 or 6–8) to accommodate the spicule of affected nail and
granulation tissue is used to push directly towards the nail matrix. It is then rotated over the
matrix by a perpendicular pressure so all tissue is removed. A sterile doubled layer of vaseline
gauze is applied, followed by a compression dressing.

FIGURE 57.17 Treatment of ingrown toenail: electrocautery of wedge of
tissue
Paronychia
Initial treatment:
antiseptic (e.g. Betadine-soaked) dressing
elevation of nail fold to drain pus
application of petroleum gauze dressing
antibiotics if extensive or cellulitis developing
Sometimes the nail requires avulsion to establish free drainage of a periungual abscess. Refer to
CHAPTER 119 . Plantar fasciitis
Practice tips
Good-quality X-rays are mandatory in all severely sprained ankle injuries.
If in doubt about the diagnosis of a painful foot, X-ray.
Children rarely sprain ligaments. All joint injuries causing pain and swelling in
children need to be X-rayed.
Think of the rare problem of a dislocating peroneal tendon if a sharp click and stab
of pain is experienced just behind and below the lateral malleolus.
Paraesthesia of part or whole of the foot may be caused by peripheral neuropathy,
tarsal tunnel syndrome, mononeuritis (e.g. diabetes mellitus), rheumatoid arthritis
or a nerve root lesion from the lumbosacral spine.
Avoid giving injections of corticosteroids into the Achilles tendon.
Avoid invasive procedures such as surgical excision, diathermy or electrocautery
for plantar warts. Be aware of the limitations of liquid nitrogen.
High-resolution ultrasound can help diagnose Achilles tendon disorders.
Keep in mind the possibility of pain around the sesamoid bones of the first
metatarsal.
Beware of acral lentiginous melanoma on the sole of the foot, especially if
amelanotic (see CHAPTER 117 ).
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Achilles tendinopathy
Bunions
Calluses, corns and warts on feet
Flat feet
Ingrowing toenails
Sprained ankle
References
1 Lam P. Forefoot pain: how to treat. Australian Doctor, 22 February 2008: 21–32.
2 Cailliet R. Foot and Ankle Pain. Philadelphia: FA Davis, 1983: 105–15.
3 de Jager JP. Problems with the shoulder, knee, ankle and foot. Med J Aust, 1996; 165:
570–1.
4 Larkins PA. The little athlete. Aust Fam Physician, 1991; 20: 973–8.
5 Quirk R. Flat foot in middle age: diagnosis and treatment. Modern Medicine Australia,
1995; 38(11): 44–7.
Moulds R (Chair). Plantar fasciitis. In: Therapeutic Guidelines: Rheumatology (Version 2).
6 Melbourne: Therapeutic Guidelines Group, 2010: 236–41. Page 714

7 Barton S, ed. Clinical Evidence. BMJ Publishing Group, 2001: 742–3, 823–31.

8 Litt JC. The sprained ankle. Diagnosis and management of lateral ligament injuries. Aust
Fam Physician, 1992; 447: 452–6.
58 Walking difficulty and leg swelling
9 Lam P. Acquired adult flat feet deformity: how to treat. Australian Doctor, 1 May 2009:
25–32.

10 Jahss MH et al. Investigations into the fat-pads of the sole of the foot: anatomy and
histology. Foot and Ankle, 1992; 13: 233–42.
Would ye not think his cunning to be great that could restore this cripple to his legs again?
11 Limb conditions [published 2017]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2017. www.tg.org.au, accessed November 2019. WILLIAM SHAKESPEARE (1564–1616), KING HENRY VI
12 Brown CH. A review of subcalcaneal heel pain and plantar fasciitis. Aust Fam Physician, The clinical evaluation of the person presenting with difficulty walking can be very complex,
1996; 25: 875–85. especially for abnormal gaits caused by neurological conditions. Not all gaits fall into a single
category; gait disturbances may be multifactorial, especially in the elderly.
13 David JA et al. Injected corticosteroids for treating plantar heel pain in adults. Cochrane
Database of Syst Rev, 2017; Issue 6. Non-neurological conditions are the most common cause of walking difficulties. They include
various arthritic conditions of the lower limbs, usually presenting as a limp, other mechanical
14 Paoloni J. Chronic foot and ankle conditions. Update. Medical Observer, 17 October 2008: factors, such as swelling of the legs, disorders of circulation such as intermittent claudication,
29–32. and general debility (e.g. malignancy, anaemia and endocrine disorders such as
hyperparathyroidism).
15 Masterton E et al. The planovalgus rheumatoid foot—is tibialis tendon rupture a factor? Br
J Rheumatol, 1995; 34: 645–6. It is important for the general practitioner not to overlook hypokalaemia and drugs or the
myopathies as a cause of walking difficulty. The drugs that require special consideration include
16 Quirk R. Stress fractures of the foot. Aust Fam Physician, 1987; 16: 1101–2.
alcohol, corticosteroids, chloroquine, colchicine, the statins, gemfibrozil, diuretics, beta blockers
17 Nail disorders [published 2015]. In: Therapeutic Guidelines [digital]. Melbourne: and general anaesthetic agents.
Therapeutic Guidelines Limited; 2015. www.tg.org.au, accessed November 2019.
Abnormal gaits
18 Murtagh J, Coleman J. Practice Tips (8th edn). Sydney: McGraw-Hill Education, 2019:
67–9, 100–101.
It is convenient to classify abnormal gaits as painless or painful (antalgic). With antalgic gaits the
rhythm is disturbed; with painless abnormal gaits the contour is affected. One type of skeletal
mechanical abnormality is described as arthrogenic (due particularly to hip disorders) and a
second type as osteogenic (due to a shortened limb).

Neurogenic gaits and myogenic gaits are considered together, under the heading ‘Neurological
disorders of gait’.

Psychogenic or ‘hysterical’ gait may have to be considered if the gait is bizarre, inconsistent or
seems greatly exaggerated. Falls are rare. On the other hand, loss of confidence, especially in the
elderly, is an important cause of gait disturbance. However, many abnormal gaits that are caused
by neurological disease may also appear bizarre, and caution is advised. Doubtful cases should
be referred for an expert opinion.
Examination of gait and posture1 Cerebellar (ataxic) gait
The patient has difficulty standing, has a broad-based stance and an unsteady gait, with swaying
Disorders of gait and posture go hand in hand because of a common physiological process. from side to side. It has been described as the ‘dirty diaper’ gait. The person may stagger or
The source of the abnormality is indicated. bump into walls and may be accused of being drunk. When asked to walk in a straight line they
tend to veer towards the side of the lesion. Ask them to walk ‘heel to toe’ in a straight line and
1. Ask the patient to stand. perform a heel–knee–shin test to demonstrate cerebellar ataxia. Significant causes are multiple
sclerosis, alcoholic cerebellar degeneration and space-occupying lesions. Cannot climb stairs.
Note any difficulty in reaching a standing position. Difficulty = proximal muscle weakness.
Basal ganglia gait (Parkinson type)
2. Ask the patient to stand with feet together and eyes open at first, then eyes closed for up to 60
seconds (Romberg test). Identifying this disorder in its early stages can be difficult as the first sign may be a limp with
one leg being described as weak or stiff or slow.2 However, the typical gait is a shuffling of the
If positive (sways or falls) = loss of proprioception (e.g. peripheral neuropathy).
feet with small steps in a forward flexed posture, rather like a person walking with a belt around
3. Ask the patient to walk normally for a few metres (ensure sufficient testing length). the ankles. This leads to a hurrying (festinant) gait as though there is an impending feeling of
falling forward (propulsion). Another feature is freezing. There is hesitation in starting.
Gait initiation: hesitancy = basal ganglia or frontal cortex
Stride length: very short = basal ganglia or frontal cortex
Spastic gait
irregular = cerebellar Spastic gait may be regarded as the typical stiff bilateral or paraplegic gait, or as a hemiplegic
Narrow or broad narrow = UMN, muscle weakness, basal ganglia gait. With the former the gait affects both legs—they are stiff or weak, leading to slow, jerking
base: broad = cerebellum, proprioception, vestibular walking, dragging of the feet and scraping of the toes. This scuffing can be heard as the front of
the shoe drags along the ground. Every step can be a struggle and the person may appear as
Stiff or ‘sloppy’: stiff = UMN, basal ganglia sloppy = LMN, muscle
though walking through glue on the floor.
weakness
Heel strike: loss of normal strike = UMN, LMN, myopathy A scissor-type gait will develop with bilateral hip adduction. Spasticity is caused by a UMN
lesion, including multiple sclerosis and spinal cord compression. The typical UMN posture is of
High stepping: positive = LMN (distal), proprioception, muscle weakness
a flexed upper limb and an extended lower limb.
Arm swing: decreased = basal ganglia, UMN (frontal lobes)
With hemiplegia, the person drags the affected leg stiffly with the hips adducted, the knee
Pelvis control: Trendelenburg gait = proximal muscle weakness
extended and the foot plantar flexed, leading to scraping of the toes. Mounting stairs can be very
difficult, especially if clonus is induced with dorsiflexion of the foot.
4. Ask the patient to walk using provocation tests.
Foot drop gait
‘Tightrope’ walk: tests proprioception
The person cannot dorsiflex the foot, leading to a high-stepping gait with extra flexion of the hip
Stand on tiptoes and back on the heels: tests distal muscle weakness and knee to lift the foot off the ground. The foot then slaps down on the ground.

Note: Peripheral neuropathy is a common cause of LMN lesion.

Vestibular gait
If unilateral, the person tends to veer off to the side of the lesion.
Page 715

Neurological disorders of gait Apraxia

With apraxia of gait (due to a prefrontal lobe lesion) there is a failure of control of the legs. The
person may stand up and try to walk but looks with bewilderment at the legs (the ‘glued to the the hip and knee joints. A limp implies an asymmetrical gait pattern caused by one of four
floor’ effect) and moves them in an inappropriate manner with a broad-based, small-stepping general factors:
unsteady gait. Turning is difficult. It is common in the elderly, usually secondary to
cerebrovascular disease, and can be described as lower body Parkinsonism. Apraxia is caused by 1. unequal leg length
bilateral cortical involvement, such as normal pressure hydrocephalus, multi-infarct states and
tumours of the corpus callosum.2 2. antalgic (painful) gait (e.g. hip disorder)

3. restricted joint movement (e.g. ankylosed knee)

Neurogenic claudication
The person with intermittent claudication of the cauda equina, due to spinal canal stenosis,
develops pain in the leg after walking a certain distance. However, weakness and numbness are
usually more prominent than pain.
4. neuromuscular weakness (e.g. poliomyelitis)
Limp has an inseparable relationship with painful hip and buttock conditions, especially those of
the hip. Painful hip and pelvic conditions that cause limp are presented in CHAPTER 54 .

Drop attacks Limp in adults

In a drop attack the person suddenly falls to the ground, without other symptoms, and gets up In adults the cause of limp is usually more obvious than in children and is commonly due to
almost immediately. There is no loss of consciousness. Drop attacks can be caused by disorders degenerative osteoarthritis of the hip or knee, to spinal disorders, especially sciatica caused by a
such as epilepsy, Parkinson disease and vertebrobasilar insufficiency. However, in most cases, disc prolapse, or to overuse disorders of the knee, ankle or foot. Other causes to consider are
particularly middle-aged and elderly women, there is no obvious cause. (See CHAPTER 43 .) trauma to the back and legs, vestibular ataxia, Parkinson disease and intermittent claudication.

Waddling (myopathic) gait Limp in children

A waddling gait is usually caused by muscular dysfunction affecting the pelvic girdle muscles The child who limps presents an interesting diagnostic dilemma. The limp must be considered to
and trunk. There is a wide-based gait with a marked ‘rocking and rolling’ body swing from side be due to a definite organic cause, although conversion reactions can be a factor.3 It is
to side and related compensatory movements of the pelvis; that is, a bilateral Trendelenburg gait. appropriate to focus initially on the hip. The diagnostic strategy is presented in TABLE 58.1 .
Cannot climb stairs.

Table 58.1 Limp in children: diagnostic strategy model

Proximal muscle weakness
(modified)
The person may complain when getting out of a low chair or going up or downstairs. The
weakness can be demonstrated by asking them to squat down and, after a second, rise from the Probability diagnosis
squatting position.2 Waddling of gait reflects extreme cases. Causes include myopathies, motor
neurone disease and Guillain–Barré syndrome. Post trauma/intense exercise causing strain syndromes
Ill-fitting shoes
Distal muscle weakness Hip disorders, esp. transient synovitis
Heel disorders (12–14 years)
This causes a high-stepping gait as the foot is floppy and tends to flap, with walking similar to
foot drop gait. Causes include peripheral neuropathy, myotonic dystrophy and peroneal muscular Serious disorders not to be missed
atrophy. Toddlers DDH
Child abuse
Page 716
Septic arthritis
Limp Foreign body (e.g. needle in foot)
4–8 years Perthes disorder
Limp is a symptom commonly associated with painful disorders of the lower limb, especially of
 Transient synovitis Multiple fractures and epiphyseal separations in toddlers are highly suggestive of
physical child abuse; a skeletal survey should be ordered if this is suspected.
Adolescents SCFE
Avulsion injuries (e.g. ischial tuberosity) Perthes disease can present from ages 4–12 years but is usually found from 4–8
Osteochondritis dissecans of knee years with a peak age of 5–7 years.
Duchenne muscular dystrophy
Infections of and around the hip joints are most common in infancy. Classically, the
All groups Septic infections: hip is held immobile in about 30° of flexion with slight abduction and external
septic arthritis rotation. The commonest organism is Staphylococcus aureus, followed by
Haemophilus influenzae.
osteomyelitis
tuberculosis Tuberculosis may also occur in children (usually under 10 years) with a
Tumour (e.g. osteosarcoma) presentation similar to Perthes disorder.
Juvenile chronic arthritis
SCFE typically presents in the obese adolescent (10–15 years) with knee pain and
Spinal disorders: a slight limp.
discitis
Growing pains are a controversial issue but do appear to exist as an aching
fracture
myalgia usually manifest in the leg muscles (anterior thigh, calf, posterior knee).
Pitfalls (often missed) The pain is bilateral, non-articular and usually unrelated to activity.
Foreign body (e.g. glass in foot)
Osteochondritis (aseptic necrosis):
femoral head—Perthes disease A diagnostic approach to limp
knee—Osgood–Schlatter disease
calcaneum—Sever disease History
navicular—Köhler disease
Myalgia = growing pains The age of the patient gives a diagnostic pointer. A careful history, especially of trauma, may
lead to the diagnosis. A history of injury is usually but not always available. The relationship of
Overuse syndrome (esp. adolescent):
the limp to exercise and footwear is significant. The location of any associated pain is relevant:
patellar tendinopathy (jumper’s knee) low back pathology can refer to the buttocks and hip pathology can cause knee pain.
Stress fractures (e.g. tibia, femoral neck, navicular)
Examination
Limp can be considered as acute, subacute or chronic. An acute limp may be due to injury, The hip and knee joints should be carefully examined if the source of limp has no specific
infection (osteomyelitis, septic arthritis), spinal injuries, a fracture or an irritable hip (transient localisation. Get the child to walk and run on the toes and heels (if appropriate). Note the gait
synovitis). Subacute causes include juvenile rheumatoid arthritis and tumour or leukaemia. and check whether it is antalgic (painful), hemiplegic (the arm is held out in a balancing action)
Chronic causes include cerebral palsy, DDH, Perthes disease and chronic SCFE. or Trendelenburg (classic for DDH). Look for evidence of muscular dystrophy. Never forget to
examine the soles of the feet and between the toes.

Key facts and checkpoints Investigations

Trauma, sepsis and DDH are perhaps the most common reasons for an infant to The following should be considered:
limp and refuse to walk. However, a painless waddling gait suggests DDH or
Perthes disease, which usually begins with a painless limp. FBE and ESR
 blood culture Plain X-ray is normal. Orthopaedic assessment is recommended.

needle aspiration of joint

Perthes disease, SCFE and DDH
radiological: plain X-ray, ultrasound, bone scan, CT or MRI scan
Refer to CHAPTER 54 .
Page 717

Management Paget disease

Management is based on the cause. Surgical drainage supplemented with antibiotics is essential
for septic arthritis. If the child initially had a limp and now cannot walk, consider hospital
admission.
Specific conditions
Osteomyelitis
Acute haematogenous osteomyelitis is mainly a disease of childhood, occurring in the proximal
ends of long bones, particularly the femur and tibia. It should be suspected in a child with an
acute febrile illness, unwillingness to move the limb and ‘fingertip’ tenderness near one of the
large points (the metaphysis). Main organisms—S. aureus, S. pneumonia, Kingella kingae,
Propionibacterium acnes. Sources of infection—boils, abscesses, septic toes, surgical
procedures. Consider impaired immunity and diabetes.
Paget disease of bone (osteitis deformans) is a chronic focal disorder of the adult skeleton in
which new soft bone replaces localised areas of normal bone. The cause is unknown but a viral
aetiology is suspected. There is a great increase in bone turnover with osteoclastic resorption
followed by increased but disorganised osteoblastic activity. The disorder is quite common in
Caucasians:
1 in 200 of the population at 40 years
1 in 10 of population at 90 years
Paget disease is usually asymptomatic but some patients may present with deep aching Page 718
pain in the lower back and lower limbs. They may also present with a disturbance of
gait due to unequal leg length, osteoarthritis of associated joints such as the knee or hip, or a
change in the distribution of mechanical forces in the lower extremities (see FIG. 58.1 ).

Blood should be collected for FBE, ESR and culture (positive in 60%). A plain X-ray and
nuclear scan are valuable but may not provide immediate confirmation of the diagnosis (may be
normal for the first 10 days). The child should be admitted to hospital, an IV line should be
inserted and IV antibiotics commenced to cover the organisms involved—empirical therapy:

flucloxacillin:4 50 mg/kg up to 2 g IV 6 hourly; adjust according to the site of infection, patient’s age and
particularly to culture and sensitivity results4

Septic arthritis
Septic arthritis should be suspected in a child with pyrexia and an acute arthritis with limited
motion. Manage as for osteomyelitis as causative organisms are similar.
FIGURE 58.1 Paget disease of the left leg showing deformity of the tibia with
Bone tumour a ‘sabre’ tibia due to its enlargement of length and bulk

Chronic limp is a common presentation of malignant bone tumours. Radiological investigation is Clinical features5
mandatory.
Male:female ratio = 2:1.
Irritable hip syndrome (transient synovitis)
95% asymptomatic (discovered by X-ray or raised serum alkaline phosphatase [ALP] level).
Typical age is 3–8 years and the child presents with an acute limp with restricted hip motion.
Symptoms may include joint pain and stiffness (e.g. hips, knees), bone pain (usually spine),
deformity, headache and deafness.

Bone pain is typically deep and aching; it occurs at rest, particularly at night.

Signs may include deformity, enlarged skull (‘hats don’t fit any more’), bowing of tibia,
waddling gait, hyperdynamic circulation (see FIG. 58.2 ).

Bones most commonly affected, in decreasing order, are the pelvis, femur, skull, tibia,
vertebrae, clavicle and humerus.

Sensory disability—taste, smell, vision, hearing, loss or reduction of feeling in areas of the
face if cranial nerves involved.

FIGURE 58.2 Paget disease: possible clinical features

Diagnosis
Raised serum ALP level (often very high >1000 U/L). A result >125 U/L suggests active
disease.6

Note: Calcium and phosphate normal.

Plain X-ray: dense expanded bone—best seen in skull and pelvis.

 Note: Can mimic prostatic secondaries, so every male Pagetic patient should have a DRE and DVT must be considered in all unilateral cases and ultrasound examination performed if
serum PSA test. appropriate.

Bone isotopic scans: useful in locating specific areas. If a DVT is present, consider occult malignancy (e.g. pancreatic cancer).

Watch for the uncommon complication of osteogenic sarcoma. Consider pelvic cancer causing lymphatic obstruction in a woman >40 years presenting with
painless unilateral leg oedema.
Note: Screen siblings and children every 5 years after the age of 40.6
A drug history is essential as several drugs can cause oedema.
5,6
Treatment
Pitting oedema is a feature of venous thrombosis or insufficiency, not lymphatic obstruction.
The major goals are relief of pain, normal biochemical indices of bone turnover and prevention
of long-term complications (e.g. deafness, deformities). Treatment is required for symptomatic
Table 58.2 Leg and ankle swelling: diagnostic strategy model
features such as bone pain and neurological complications, and for selected asymptomatic
patients such as those with active disease and <50 years.
Probability diagnosis
Localised disease and most patients with asymptomatic disease require no treatment; Page 719
hence, population screening is not recommended. Physiological:
dependency/gravitational
Bisphosphonates, particularly IV zoledronate, are first-line therapy:6 prolonged sitting, standing, walking
zoledronic acid 5 mg IV over at least 15 minutes, once yearly (certain biomedical hot weather
parameters must be met, e.g. eGFR >35) pregnancy
mechanical (e.g. constricting clothing)
If zoledronic acid is inappropriate, use: Chronic venous insufficiency (varicose veins)
pamidronate disodium 30–60 mg IV infused over 2–4 hours Congestive cardiac failure
Drugs (e.g. calcium antagonists, NSAIDs, steroids, glitazones, beta blockers)
or Local trauma
risedronate 30 mg (o) daily for 2 months (on empty stomach) Obesity
Serious disorders not to be missed
Repeated doses may rarely be required in severe cases as judged by symptoms and disease
activity (e.g. monitoring with serum ALP usually 6 months post-therapy and then 2 yearly; X- Vascular:
rays also help monitor response). deep venous thrombosis (DVT)
inferior vena cava thrombosis
Leg swelling thrombophlebitis
Infection:
Diagnostic features and pitfalls cellulitis
tropical infections (e.g. filariasis, hookworm)
Not all swollen legs require investigation and treatment. Cancer:
obstruction from pelvic cancer
The significance of leg swelling varies according to the age group, whether it is bilateral or
unilateral, and whether the onset is sudden or gradual (see TABLE 58.2 ). localised malignancy
Other:
If the onset of oedema is acute (often <72 hours) suspect DVT.7 kidney disease (e.g. nephrotic syndrome)
 liver disease (e.g. cirrhosis) DVT (usually gradual)
skin allergy (e.g. angioneurotic oedema)
cellulitis/erysipelas
Pitfalls (often missed)
compartment syndrome
Idiopathic (periodic or cyclic) oedema
Protein-losing enteropathy (e.g. Crohn) Pain accompanies most of these conditions but the absence of pain does not exclude Page 720

Lipoedema (fat and fluids) of legs DVT or thrombophlebitis. Refer to CHAPTER 55 .

Factitious oedema
Rarities: Lipoedema
malnutrition Lipoedema (also spelled lipedema) is the development of painful bilateral leg swelling that does
lymphoedema: primary or secondary not involve the feet (whereas in lymphoedema the swelling starts with the most distal part of the
foot). Lipoedema is abnormal fatty tissue.
Seven masquerades checklist
Diabetes Clinical features
Drugs (multiple)
Exclusive to obese women; hereditary
Thyroid/endocrine (hypothyroidism, Cushing syndrome)
Anaemia Typically affects the thighs, buttocks and lower legs (sometimes the arms)

Spares the feet

Investigations Bilateral and symmetrical distribution of fat

Select from these first-line tests: The legs are often painful and bruise easily

urinalysis (?albumin) The Stemmer sign (the ability to pick up a fold of skin at the base of the large toe) is usually
negative8
FBE and ESR
It is difficult to treat. The focus is on changes to diet, exercises, massage and bandage
serum UEC, LFTs, glucose compression.

TSH level
Patient education resources
ultrasound (DVT screen)
Hand-out sheets from Murtagh’s Patient Education 8th edition:
other radiographs (e.g. CT scan, venogram)
Deep venous thrombosis
Calf swelling of sudden onset
Paget disease of bone
Causes to consider:
Parkinson disease
acute arterial occlusion

ruptured Baker cyst

Resource
ruptured medial head of gastrocnemius A physician’s guide to the management of Paget disease of bone. Brooklyn NY: The Paget
 Foundation. Available from: https://www.paget.org/index-php/healthcare-
professionals/pagets-disease-of-bone/126-a-physicians-guide-to-the-management-of-pagets-
disease-of-bone.html.
References
1 Horne M. Gait and postural disorders. Monash University Neurology Notes, 1996: 1–4.
2 Talley NJ, O’Connor S. Clinical Examination: A Systematic Guide to Physical Diagnosis
(7th edn). Sydney: Churchill Livingstone/Elsevier, 2014: 459–61.
3 Gwee A, Rimer R, Marks M, eds. Paediatric Handbook (9th edn). Melbourne: Blackwell
Science, 2015: 227–8.
4 Bone and joint infections [published 2019]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed October
2019.
5 Ralson D, Langston AL, Reid IR. Pathogenesis and management of Paget disease of bone.
Lancet, 2008; 372(9633): 155–63.
6 Paget disease of bone [published 2019]. In: Therapeutic Guidelines. [digital]. Melbourne:
Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed October 2019.
7 Diu P, Juergens C. Clinical approach to the patient with peripheral oedema. Medicine
Today, October 2009; 10 (10): 37–42.
8 Piller N, Birrell S. Lymphoedema: how to treat. Australian Doctor, 6 June 2003: I–VIII.
Page 721
59 Palpitations
The most important requirement of the art of healing is that no mistakes or neglect occur. There
should be no doubt or confusion as to the application of the meaning of complexion and pulse.
These are the maxims of the art of healing.
HUANG TI (THE YELLOW EMPEROR) (2697–2597 BCE)
Palpitations are an unpleasant awareness of the beating of the heart. By definition it does not
always imply ‘racing’ of the heart but any sensation in the chest, such as ‘pounding’, ‘flopping’,
‘skipping’, ‘jumping’, ‘thumping’ or ‘fluttering’ of the heart. The problem requires careful
attention and reassurance (if appropriate) because heartbeat is regarded as synonymous with life.
To the practitioner it may simply represent anxiety or it could be a prelude to a cardiac arrest. In
many circumstances prompt referral to a cardiologist is imperative.
Key facts and checkpoints
The symptom of palpitations is suggestive of cardiac arrhythmia but may have a
non-cardiac cause.
Palpitations not related to emotion, fever or exercise suggest an arrhythmia.
Symptomatic premature ventricular beats/complexes (ventricular ectopics) are
common, and atrial fibrillation is the most common sustained cardiac arrhythmia (1–
2% of population), while cardiologists claim that the commonest is the symptomatic
ventricular ectopic beat.1
The commonest cause of an apparent pause on the ECG is a blocked premature
atrial beat/complex (atrial ectopic).
A 12-lead electrocardiographic diagnosis is mandatory. If the cause is not
documented, an ambulatory electrographic monitor (e.g. Holter) may be used.
Consider myocardial ischaemia as a cause of the arrhythmia.
Consider drugs as a cause, including prescribed drugs and non-prescribed drugs
such as alcohol, caffeine and cigarettes.
 Common triggers of paroxysmal supraventricular tachycardia (PSVT) include Menopause (sudden vasodilatation)
anxiety and cigarette smoking. Drugs (e.g. caffeine, cocaine)
The commonest mechanism of any arrhythmia is re-entry. Mitral valve disease
Aortic incompetence
Ask patients to tap out the rate and rhythm of their abnormal beat. Hypoxia/hypercapnia
Rarities:
tick bites (T1–5)
A diagnostic approach phaeochromocytoma
Seven masquerades checklist
A summary of the diagnostic strategy model is presented in TABLE 59.1 , which includes
significant causes of palpitations. Depression
Diabetes (indirect)
Drugs
Table 59.1 Palpitations: diagnostic strategy model
Anaemia
Hyperthyroidism
Probability diagnosis Spinal dysfunction
Anxiety UTI (possible)
Premature beats (ectopics)
Is the patient trying to tell me something?
Sinus tachycardia
Drugs (e.g. stimulants) Quite likely. Consider cardiac neurosis, anxiety.
Supraventricular tachycardia
Serious disorders not to be missed
Probability diagnosis
Myocardial infarction/angina
Arrhythmias: If the palpitations are not caused by anxiety or fever, the common causes are sinus tachycardia
and premature complexes/ectopics (atrial or ventricular). Sinus tachycardia, which by definition
atrial fibrillation/flutter
is a rate of 100–160/min (bpm), may be precipitated by emotion, stress, fever or exercise. PSVT
ventricular tachycardia and atrial fibrillation are also quite common arrhythmias.
bradycardia
sick sinus syndrome Sinus tachycardia can be differentiated clinically from PSVT in that it starts and stops more
gradually than PSVT (abrupt) and has a lower rate of 100–150 compared with 160–220.
torsade de pointes
Long QT syndrome Important causes of tachyarrhythmias are:
Wolff–Parkinson–White (WPW) syndrome
Electrolyte disturbances: ischaemic heart disease, especially acute coronary syndromes
hypokalaemia hypertension
hypomagnesaemia
hypoglycaemia (type 1 diabetes) heart failure

Pitfalls (often missed) mitral disease

Fever/infection thyrotoxicosis
Pregnancy
 atrial septal deficit Lightheadedness

Chest pain
Serious disorders not to be missed
New onset of irregular heart rhythm
It is vital not to overlook acute coronary syndromes as a cause of the arrhythmia manifesting as
palpitations. About 25% of infarcts are either silent or unrecognised. Sinister life-threatening Heart rate >120 or <45/minute at rest
arrhythmias are:
Significant underlying heart disease
ventricular tachycardia
Family history of sudden death
atypical ventricular tachycardia (torsade de pointes)

sick sinus syndrome (SSS)

Seven masquerades checklist
complete heart block
Surprisingly, all the masquerades have to be considered, either as direct or indirect causes:
It is also important not to miss: Page 722 depression, especially with anxiety and in the postpartum period; diabetes, perhaps as an
arrhythmia associated with a silent myocardial infarction or with hypoglycaemia; drugs as a very
hypokalaemia common cause (see TABLE 59.2 ); anaemia, causing a haemodynamic effect; hyperthyroidism;
hypomagnesaemia spinal dysfunction of the upper thoracic vertebrae T1–5; and urinary tract infection, especially in
the elderly.

Pitfalls
Table 59.2 Some drugs that cause palpitations
There are many pitfalls in the diagnosis and management of arrhythmias, especially in the
elderly, where symptoms of infection may be masked. Palpitations associated with the
menopause can be overlooked. Valvular lesions, usually associated with rheumatic heart disease, Alcohol
such as mitral stenosis, and aortic incompetence may cause palpitations. The rare tumour, Alendronate
phaeochromocytoma, presents with palpitations and the interesting characteristic of postural Aminophylline/theophylline
tachycardia (a change of more than 20 beats/ min). The toxin from tick bites in dermatomes T1–
Amphetamines
5 can cause palpitations.
Antipsychotics (e.g. CPZ, haloperidol, olanzapine)
General pitfalls Antiarrhythmic drugs (esp. Class 1a and 1c)
Antidepressants:
Misdiagnosing PSVT as an anxiety state tricyclics
Overlooking a cardiac arrhythmia as a cause of syncope or dizziness MAO inhibitors
Appetite suppressants
Overlooking atrial fibrillation (AF) in the presence of a slow heartbeat Atropine, hyoscine, hyoscyamine
Overlooking mitral valve prolapse in someone, especially a middle-aged woman presenting Caffeine, including energy drinks
with unusual chest pains and palpitations (auscultate in standing position to accentuate click(s) Cocaine
± murmurs) Digitalis
Diuretics → K ↓, Mg ↓
Glyceryl trinitrate
Red flags for palpitations Nicotine in cigarettes
 Sympathomimetics: Do you have pain in the chest or breathlessness during the attack?
in decongestants (e.g. pseudoephedrine, ephedrine)
Do you feel dizzy or faint during the attack?
β-agonists (e.g. salbutamol, terbutaline)
Thyroxine What medications do you take?

How much coffee, tea, Coke do you drink?

PSVT has been described as resulting from injury or dysfunction of the upper thoracic Have you been using nasal decongestants?
(especially T4 and T5) and cervical spine in the absence of organic heart disease.2 The author has
personally encountered several cases of PSVT alleviated by normalising function of the spine. Did you eat Chinese takeaway food before the attack?

Psychogenic considerations Do you smoke cigarettes, and how many?

Emotional factors can precipitate a tachycardia, which in turn can exaggerate the Page 723
problem in an anxious person. Some people have a cardiac neurosis, often related to
identification with a relative or friend. A family history of cardiac disease can engender this
particular anxiety. Evidence of anxiety and depression should be sought in those presenting with
palpitations without clinical evidence of cardiovascular disease.
The clinical approach
Careful attention to basic detail in the history and examination can point the way clearly to the
clinical diagnosis.
History
Ask the patient to describe the onset and offset of the palpitations, the duration of each episode
and any associated features. Then ask them to tap out on the desk the rhythm and rate of the
heartbeat experienced during the ‘attack’. If they are unable to do this, tap out the cadence of the
various arrhythmias to find a matching beat.
An irregular tapping ‘all over the place’ suggests atrial fibrillation, while an isolated thump or
jump followed by a definite pause on a background of a regular pattern indicates premature beats
(ectopics/ extrasystoles) usually of ventricular origin. The thump is not the abnormal beat but the
huge stroke volume of the beat following the compensatory pause.
Do you take any of the social drugs, such as cocaine or marijuana?
Have you ever had rheumatic fever?
Have you lost weight recently or do you sweat a lot?
Chest pain may indicate myocardial ischaemia or aortic stenosis; breathlessness indicates anxiety
with hyperventilation, mitral stenosis or cardiac failure; dizziness or syncope suggests severe
arrhythmias such as SSS and complete heart block, aortic stenosis and associated
cerebrovascular disease.
Examination
The ideal time to examine the patient is while the palpitations are being experienced. Often this
is not possible and the physical examination is normal. Measurement of the heart rate may
provide a clue to the problem.
As a working guide, a rate estimated to be about 150 beats per minute (bpm) suggests PSVT,
atrial flutter/fibrillation or ventricular tachycardia (see FIG. 59.1 ). A rate less than 150 bpm is
more likely to be sinus tachycardia, which may be associated with exercise, fever, drugs or
thyrotoxicosis.3

Key questions
Do the palpitations start suddenly? How long do they last?

What do you think brings them on?

Are they related to stress or worry or excitement?

What symptoms do you notice during an attack?

 FIGURE 59.1 Heart rate guide to causes of various arrhythmias

Assess whether the pulse is regular or irregular. If irregular, the possible causes are ectopic beats,
atrial fibrillation and atrial flutter with varying degrees of block.

The nature of the pulse, especially the pulse pressure and rhythm, should be carefully evaluated
(see FIG. 59.2 ). Look for evidence of fever and infection and features of an anxiety state or
depressive illness.
Page 724
FIGURE 59.2 Various pulse forms
Have the patient hyperventilate for 2–3 minutes to determine whether the arrhythmia is Page 725
induced. Seek evidence of underlying disease such as anaemia, thyroid disorder,
alcohol abuse or cardiac disease including the JVP and pulmonary congestion. Also look for
evidence of a mitral valve prolapse (mid-systolic click; late systolic murmur). Possible signs in
the person presenting with palpitations are shown in FIGURE 59.3 .4
 serum electrolytes and magnesium

serum digoxin (?digitalis toxicity)

virus antibodies (?myocarditis)

chest X-ray

cardiac (ischaemia and function):

ECG (12 lead)

ambulatory 24-hour ECG (Holter) monitoring

echocardiography (to look for valvular heart disease and assess left ventricular function)

electrophysiology studies

exercise stress test (?underlying CAD)

event monitor (can record up to 2 weeks)

implantable monitor (may last 1 year)

Palpitations in children
Children may complain of palpitations which may be associated with exercise, fever or anxiety.
Various arrhythmias can occur with three requiring special consideration—PSVT, heart block
and ventricular arrhythmias.5

PSVT is characterised by 200–300 bpm, the fastest rates occurring in infants. The cause Page 726
is often not found but some children have ECG abnormalities compatible with the
Wolff–Parkinson–White (WPW) syndrome. The recommended first-line treatment of PSVT is
vagal stimulation via the application of ice packs to the upper face (forehead, eyes and nose) of
the affected infant. Intravenous adenosine will usually terminate the episode.
FIGURE 59.3 Signs to consider in a person with palpitations
A particular concern is those children who have the familial long QT syndrome. They are prone
Investigations to develop ventricular tachyarrhythmias, which may lead to sudden death. Consider it in children
developing syncope on exertion.
The number and complexity of investigations should be selected according to the problem and
test availability. A checklist would include:
Palpitations in the elderly
blood tests (for underlying disease):
The older the person, the more likely is the onset of palpitations due to cardiac disease such as
haemoglobin and film myocardial infarction/ischaemia, hypertension, arrhythmias and drugs, especially digoxin.
Occasional atrial and ventricular arrhythmias, especially premature complexes (ectopics), occur
thyroid function tests in 40% of older people6 and treatment is rarely required. Atrial fibrillation occurs in 5–10% of
people over 65 years of age, 30% of whom have no clinical evidence of cardiovascular disease,
and in around 15% of those over 80 years of age.7 A rapid ventricular rate with symptoms is the
only indication for digoxin in the elderly, but beware of SSS, especially if dizziness or syncope
accompanies the fibrillation.

In the elderly, thyrotoxicosis may present as sinus tachycardia or atrial fibrillation with only
minimal signs—the so-called ‘masked thyrotoxicosis’—so it is easy to overlook it. The only clue
may be bright eyes (‘thyroid glitter’) due to conjunctival oedema (see CHAPTER 14 ).

Arrhythmias
Facts and figures
See FIGURE 59.4 for ECG tracings of important arrhythmias.

Cardiac arrhythmias account for about 25% of management decisions in cardiology (see
TABLE 59.3 )

Commonest are premature (ectopic) ventricular beats and atrial fibrillation.

PSVT is next most common—6 per 1000 of population.

The commonest mechanism of paroxysmal tachycardias is re-entry (see FIG. 59.5 ).

Electrophysiological studies are the gold standard investigation for tachycardias but are rarely
needed for diagnosing most arrhythmias.

Almost all antiarrhythmic drugs have a proarrhythmic potential (i.e. they may worsen existing
arrhythmias or provoke new arrhythmias in some patients) (see TABLE 59.4 ). Always
consider the no-treatment option.

Sinus tachycardia is usually physiological. If no obvious cause, but the symptoms are
troublesome, treat with a beta blocker or verapamil.8

Avoid digoxin in cases with an accessory pathway.

If ‘quinidine syncope’ occurs, consider torsade de pointes as the cause.

Any patient commencing antiarrhythmic therapy should have a 12-lead ECG 1–2 weeks later
to check the QT interval. If prolonged, treatment should usually be ceased.

The two main indications for permanent pacemaking are SSS (only if symptomatic) and
complete heart block.
 FIGURE 59.4 Tracings of important arrhythmias

Table 59.3 Types of arrhythmias

Non-pathological sinus rhythms

Sinus arrhythmia
Sinus bradycardia
Sinus tachycardia
Pathological bradyarrhythmias
Sinus node disease (sick sinus syndrome)
Atrioventricular (AV) block:
first-degree AV block
second-degree AV block
third-degree (complete) AV block
Pathological tachyarrhythmias
1. Atrial:
atrial premature (ectopic) complexes
PSVT
atrial flutter FIGURE 59.5 Diagrammatic mechanism of re-entry tachycardia
atrial fibrillation (AF)
2. Ventricular: Table 59.4 Electrophysiological classification of common antiarrhythmic drugs
ventricular premature (ectopic) complexes (Vaughan Williams)
ventricular tachycardia: non-sustained/sustained
ventricular fibrillation Class Drug Usual dosage Common side effects
accelerated idioventricular rhythm I Membrane
torsade de pointes (twisting of points)1 depressant drugs
(sodium-channel
blockers)
Ia Disopyramide 100–200 mg qid Blurred vision, dry mouth,
Procainamide 1 g qid IV use urinary problems in males
(avoid in men >50)
Quinidine 2–3 SR tabs
(0.25 g) bd Anorexia, nausea, urticaria
Diarrhoea, headache,
tinnitus
 Ib Lignocaine IV use Nausea, dizziness, tremor physiological, such as in a healthy athlete. Palpitations are not a feature but they can cause
Mexiletine 200 mg tid Nausea, vomiting, tremor, dizziness, fatigue or syncope (e.g. Stokes–Adams attack—transient bradycardia due to complete
dizziness heart block).

Ic Flecainide 100 mg bd Nausea, dizziness, rash Stokes–Adams attack

II Beta blockers Various Fatigue, insomnia,
(slows AV nightmares, hypotension, Sudden onset without warning
conduction) bronchospasm
Patient falls to ground
Avoid in asthmatics
III Potassium channel SVT: 200 mg daily Rash, pulmonary fibrosis, Collapse with loss of consciousness
blockers (prolongs VT: 400 mg daily thyroid, hepatic and CNS
Pallor and still as if dead with slow or absent pulse Page 729
action potential) 80–160 mg bd effects
Amiodarone As for beta blockers Recovery—in seconds back to normal
Sotalol
Patient flushes as pulse increases
IV Calcium-channel (SR) 160–480 mg Constipation, dizziness,
blockers daily hypotension Refer for management as attacks may be recurrent
Verapamil (CR) 180–360 mg Hypotension, headache
Diltiazem daily Premature (ectopic) complexes

Note: Sotalol is a beta blocker and thus is a class II and III agent. All drugs are taken orally unless IV indicated. Adenosine and digoxin are not
Premature (ectopic) atrial complexes
classified.
These are usually asymptomatic.
Management strategies Management is based on reassurance.
Treat the underlying cause.
Check lifestyle factors such as excess alcohol, caffeine, stress and smoking; avoid
Give appropriate reassurance. precipitating factors.

Provide clear patient education. Drug treatment is rarely required and should be avoided if possible.

Explain about the problems of fatigue, stress and emotion. At present there is no ideal anti-ectopic agent.

Advise moderation in consumption of tea, coffee, caffeine-containing soft drinks and Page 727
They may be a forerunner of other arrhythmias (e.g. PSVT, atrial fibrillation).
alcohol. Page 728
For intolerable symptoms give:6
Advise about cessation of smoking and other drugs.
atenolol or metoprolol 25–100 mg (o) daily

Sinus bradycardia or

Sinus bradycardia can be a normal occurrence, but look for causation (e.g. hypothyroidism, verapamil SR 160–480 mg (o) daily
myocardial ischaemia and drugs). Correct the cause. Treatment is required only if symptomatic,
which is uncommon at rates >40–45 bpm. Use IV atropine or isoprenaline if acute treatment is Page 730
required. However, mild or transient bradyarrhythmias may be asymptomatic or even Premature (ectopic) ventricular complexes
 These are also usually asymptomatic (90%).
They occur in 20% of people with ‘normal’ hearts.
Symptoms are usually noticed at rest in bed at night.
Check lifestyle factors as for atrial premature beats.
Drugs that can cause both types of premature beats include digoxin and sympathomimetics.
Look for evidence of ischaemic heart disease, mitral valve prolapse (especially women),
thyrotoxicosis and left ventricular failure.
Ventricular premature complexes may be a forerunner of other arrhythmias (e.g. ventricular
tachycardia).
If symptomatic but otherwise well with a normal chest X-ray and ECG, reassure the patient.
Drug therapy: never commence drug therapy without performing an echocardiograph. This
will help to guide the choice of agent. Class 1 agents can make the arrhythmia worse or even
life-threatening if there is reduced ventricular function. If considering therapy, refer to a
cardiologist.
For troublesome symptoms, the beta blockers atenolol or metoprolol can be used, e.g. atenolol
25–100 mg (o) daily.
Supraventricular tachycardia9,10
SVT can be paroxysmal or sustained.
Rate is 160–220/min.
There are at least eight different types of SVT with differing risks and responses to treatment.
PSVT commonly presents with a sudden onset in otherwise healthy young people.
Passing copious urine after an attack is characteristic of PSVT.
Look for predisposing factors such as an accessory pathway and thyrotoxicosis.
Approximately 60% are due to atrioventricular (AV) node re-entry and 35% due to accessory
pathway tachycardia (e.g. WPW).10
Look for evidence of accessory pathways after reversion because accessory pathways can lead
to sudden death (avoid digoxin in WPW).
Consider SSS in a patient with SVT and dizziness.
Wolff–Parkinson–White syndrome
The structural basis for the arrhythmia of SVT in WPW syndrome is an accessory pathway that
bypasses the AV node. A typical ECG shows a short PR interval and slurred upstroke of the QRS
complex (delta wave). Patients are prone to sudden attacks of SVT. Up to 30% of patients will
develop atrial fibrillation or flutter. Even one episode of PSVT requires consideration for
radiofrequency ablation.11
Management of PSVT
1. Vagal stimulation can be attempted. Carotid sinus massage was the treatment of choice, but it
has fallen out of favour because of the potential for stroke. A popular method is to blow hard
into the end of an empty 20 mL plastic syringe to move the plunger. Other methods of vagal
stimulation include:
Valsalva manoeuvre (easiest for patient)
self-induced vomiting
ocular pressure (avoid)
cold (ice) water to face or swallowing ice
immersion of the face in water
2. If vagal stimulation fails, give adenosine IV (try 6 mg first over 5–10 seconds, then 12 mg in 2
minutes if unsuccessful, then 18 mg in 2 minutes if necessary and well tolerated). Second-line
treatment is verapamil or metoprolol. Verapamil IV 5–10 mg over 2 minutes. If ineffective but
well tolerated, repeat dose after 30 minutes. Metoprolol IV 2.5–5 mg over 2 minutes. If
ineffective but well tolerated, repeat dose after 10 minutes.10
Precautions:
Adenosine causes less hypotension than verapamil but may cause bronchospasm in
asthmatics, as may metoprolol
Use only if narrow QRS and BP >80 mm Hg
Carefully monitor blood pressure
AVOID verapamil if taking beta blockers
and
persistent tachycardia with QRS complexes >0.14 s (suggests ventricular tachycardia)
3. In the rare event of failure of medical treatment, refer for consideration of DC cardioversion or
 overdrive pacing.
Prevention and maintenance
To prevent recurrences (frequent episodes) use first-line atenolol, metoprolol, sotalol or
verapamil. Second-line: add flecainide (only if echocardiography shows no structural heart
damage). If these agents fail, consider amiodarone. Radiofrequency catheter ablation, which is
usually curative, is indicated for frequent attacks not responding to medical therapy.
Carotid sinus massage1
Carotid sinus massage causes vagal stimulation and its effect on SVT is all or nothing. It slows
the sinus rate and breaks the SVT by blocking AV nodal conduction.
In general, right carotid pressure tends to slow the sinus rate and left carotid pressure Page 731
tends to impair AV nodal conduction. Never massage both sides simultaneously. As a
rule, avoid this method and use one of the simpler alternatives.
Precautions
Avoid in the elderly (risk of embolism or bradycardia).
Ventricular tachycardia
Management requires special supervision.8,11 It may be non-sustained, where drug treatment
such as beta blockers and amiodarone may be used for symptomatic cases, or sustained, which
may result in cardiac arrest. An implantable cardioverter defibrillator or radiofrequency catheter
ablation may be used.
Torsades de pointes
This uncommon condition is potentially lethal as it may occasionally be prolonged or jump into
ventricular fibrillation with sudden death. It is associated with disorders that prolong the QT
interval. Treatment involves cessation of drugs that may prolong the QT interval, correcting
electrolyte imbalance (especially potassium), cardiac pacing and IV magnesium sulphate or IV
isoprenaline.8
Atrial fibrillation
Facts and figures
A common problem (9% incidence in the over-65 age group).7
It usually presents with an irregular ventricular rate of about 160–180 bpm in untreated
patients with a normal AV node.
Apart from acute AF (new onset <48 hrs), it tends to fall into one of the ‘three Ps’ patterns:
paroxysmal AF: abrupt onset, spontaneous return to normal rhythm (usually lasts <48 hrs)
persistent AF: abrupt onset, lasts >7 days
permanent (chronic) AF: cannot be converted to normal rhythm
All types appear to have a similar risk for thromboembolism.
Remember to look for the underlying cause: myocardial ischaemia (15% of cases), mitral
valve disease, thyrotoxicosis, hypertension (60–80% association), pericarditis, diabetes
mellitus, cardiomyopathy including chronic alcohol dependence, alcohol binge.
No cause is found in 12%—isolated or ‘lone’ atrial fibrillation.8,11
All patients should have thyroid function tests and an echocardiograph to help find a cause.
With sustained atrial fibrillation there is a 5% chance per annum of embolic episodes. There is
a fivefold risk of CVA overall.
The risk of CVA is greater in those with previous CVA, valvular heart disease, prosthetic
mitral valve and cardiac failure.
For reversion anticoagulate with warfarin for 4 weeks beforehand and maintain for 4 weeks
afterwards.
Digoxin controls the ventricular rate but does not terminate or prevent attacks.
Sotalol, flecainide and amiodarone are used for conversion of atrial fibrillation and
maintenance of sinus rhythm. Flecainide should never be prescribed in patients with reduced
LV function.
Evidence basis: RCTs showed that digoxin was beneficial for lowering the ventricular rate in
the short term but no better than placebo in restoring rhythm. Beta blockers and calcium-
channel antagonists benefitted rate control but verapamil was much less effective than
amiodarone at restoring cardiac rhythm.12
Atrial flutter
The ECG of atrial flutter has a regular saw-tooth baseline ventricular rate of 150 with narrow
QRS complexes. This is a 2:1 AV block. It is often misdiagnosed as SVT. Rarely, conduction
occurs 1:1, giving a ventricular rate of 300/min. Treatment is via DC shock or overdrive pacing
if indicated (seek specialist advice). Otherwise, drug therapies are identical to those used in atrial
fibrillation.
Treatment for atrial fibrillation/flutter10,11
As soon as AF is diagnosed, commence anticoagulation therapy unless contraindicated (high or
bleeding risk) or very low risk of CVA (low CHA2DS2-VASc score). Anticoagulation can
commence before specialist review, and affects mortality more than decisions around verapamil 2.5–10 mg/min IV over 2–3 minutes, up to maximum 15 mg then orally
rate/rhythm control. Paroxysmal or persistent atrial fibrillation confers a risk of
thromboembolism similar to permanent atrial fibrillation. or

Decisions around rate and rhythm control are best made in consultation with a specialist. The esmolol
AFFIRM study13 confirmed that there was little overall difference in outcomes between groups
whose rate vs rhythm was controlled. However, in general control rate in those who are Routine control and maintenance10
asymptomatic with good left ventricular function, and control rhythm in the highly symptomatic
and with poor LV function. Atenolol 25 mg (o), increasing to 100 mg daily prn

Page 732
or
Anticoagulation10 metoprolol 25 mg (o) bd, increasing up to 100 mg bd

(Refer to CHAPTER 122 .) or (if blockers contraindicated)

Those with ‘valvular’ AF (moderate mitral stenosis or mechanical heart valve) require warfarin verapamil SR 180–480 mg (o) daily
(and not a DOAC).
or
For everyone else with AF, the decision to anticoagulate generally follows the CHA2DS2-VASc
score. Males who score 0 and women who score 0 or 1 do not require anticoagulation. Scores 1– diltiazem CR 180–360 mg (o) daily
2 points above this threshold usually benefit from cardiology review, whereas higher scores
(male ≥2, female ≥3) should commence anticoagulation unless contraindicated (high bleeding Digoxin still has a place in the elderly, especially with cardiac failure:
risk).
digoxin 0.0625–0.25 mg (o) daily according to age, plasma creatinine and digoxin level
Use:
Amiodarone has a place in management.
Either a direct-acting oral anticoagulant (DOAC) (if Cr clearance >30 ml/min)
Rhythm control
dabigatran, apixaban or rivaroxaban
This should be considered if the patient is symptomatic and the arrhythmia is of recent onset—
or less than 6 months. Ensure anticoagulation first (as per above, or heparin if urgent
cardioversion).
warfarin—start with a low dose (e.g. 2–4 mg) and maintain a relatively low INR of 2–3 with
regular checks. (It is the appropriate agent for valvular AF.) Medical cardioversion
Do not use aspirin, clopidogrel or ticagrelor for this purpose. Amiodarone or flecainide

Rate control If the rate cannot be well controlled despite maximal medical therapy, consider AV node ablation
and a permanent pacemaker. Atrial fibrillation with a rapid ventricular response over a long
Aim for a ventricular rate >50 bpm and <110 bpm at rest (ideally <90 bpm).10 period gradually causes left ventricular dysfunction.

Rapid, urgent control of ventricular rate: Synchronised electrical DC cardioversion

Metoprolol 5 mg (1 mg/min) IV to max 20 mg (provided no evidence of heart failure and This can be given for first-line treatment or for failed medical conversion.
well-monitored BP)
 Bradycardia
Other treatment for arrhythmias
A number of non-pharmacological treatments are useful for particular arrhythmias. Sick sinus Permanent pacing if
syndrome symptomatic or
Rate-responsive pacemakers persistent
AV block
These respond to signals other than purely the atrial rate, taking into account real-time
physiological needs (such as exercise) in those with bradycardia. First degree No treatment
Second degree:
Radiofrequency ablation Mobitz I No treatment
Consider pacing Pacing if
Mobitz II
Specific abnormal foci in the conducting pathways can be ablated using direct current electrical problematic
surgery or radiofrequency burns via a catheter electrode. Radiofrequency or cryotherapy catheter Third degree:
ablation is indicated for recurrent episodes of supraventricular tachycardia, accessory pathways acute (e.g. MI) Temporary pacing Adrenaline IV Atropine
and nodal re-entry tachycardia with success rates of up to 95%. Permanent pacing Isoprenaline
chronic

Automatic implantable cardioverter defibrillator (AICD) Atrial

tachyarrhythmias
This implant is the most effective therapy yet devised for the prevention of sudden cardiac death PSVT Valsalva manoeuvre Adenosine IV or DC
in patients with documented sustained ventricular tachycardia or fibrillation. Operative mortality Verapamil IV cardioversion
should be less than 10%, after which survival at 1 year is over 90%. These new defibrillators
incorporate an antitachycardia pacemaker. Patients can either be paced out of arrhythmia or, if Class III
they develop ventricular fibrillation, they can be defibrillated using higher energy. drug?
Ablation
Page 733
Rate control with Add digoxin AV node
Surgery beta blocker or (if necessary) ablation +
verapamil (with care) permanent
Less common as catheter ablation methods improve. Usually done concurrently with other heart pacemaker
surgery. Guided by electrophysiological monitoring, a small section of the AV ring is dissected Rhythm control with Cardioversion Electrical or
to sever all aberrant connections between the atria and the underlying ventricular muscle. cardioversion, → or chemical
electrical or drugs Maintenance of
TABLE 59.5 presents a summary of the treatment of arrhythmias.
sinus rhythm →
Sotalol,
Table 59.5
Summary of treatment of arrhythmias7,8 flecainide,
amiodarone +
anticoagulation
Arrhythmia First line Second line Third line
Sinus tachycardia Treat cause Metoprolol or Atrial premature Treat cause Metoprolol or
Reduce caffeine atenolol complexes Check lifestyle atenolol or
intake verapamil
or
Verapamil (rarely Ventricular
indicated) tachyarrhythmias
Ventricular Treat cause Beta blocker Class I or III
 premature beats Check lifestyle (especially mitral drugs (rarely PSVT is rarely caused by organic heart disease in young patients.
valve prolapse) needed)
Arrhythmia of sudden onset suggests PSVT, atrial flutter/fibrillation or ventricular
Ventricular Beta blocker or Lignocaine IV DC tachycardia.
tachycardia: amiodarone or cardioversion
sotalol if stable—if A normal ECG in sinus rhythm does not exclude an accessory pathway.
non-sustained
not: DC shock
sustained Consider conduction disorders such as the WPW syndrome in PSVT. Avoid
digoxin in WPW syndrome.
Ventricular DC cardioversion IV adrenaline if Amiodarone Common triggers of premature beats and PSVT are smoking, anxiety and caffeine
fibrillation fine VF then DC (maintenance)
(especially 8 or more cups a day).
cardioversion Class III (if
recurrent)
Torsades de Correct cause, e.g. Cardiac pacing, IV isoprenaline
pointes potassium IV magnesium Patient education resource
Cease drugs if ↑ QT sulphate
Hand-out sheet from Murtagh’s Patient Education 8th edition:

Atrial fibrillation
When to refer 14

References
Patients should be referred to a cardiologist13 when:

a sustained supraventricular tachycardia is suspected
a sustained ventricular tachycardia is suspected
an ECG shows sustained delta waves of WPW syndrome, even if asymptomatic
1 Boxall J. Annual update course for general practitioners. Course abstracts. Melbourne:
Monash University, 2002: 16.
2 Lin SY et al. Association of arrhythmia in patients with cervical spondylosis: a nationwide
Page 734 population-based cohort study. J Clin Med, 2018 (23 Aug); 7(9): 236.

syncope or dizziness suggests a cardiovascular cause
a paroxysmal arrhythmia may be the cause of unexplained cardiovascular symptoms
the need for anticoagulation, rate or rhythm control is uncertain
Practice tips15
Atrial fibrillation and dizziness (even syncope) are suggestive of SSS
(bradycardia–tachycardia syndrome), which is made worse by digoxin.
Consider thyrotoxicosis as a cause of atrial fibrillation or sinus tachycardia, even if
clinical manifestations are not apparent.
Check for a history of palpitations in anyone complaining of dizziness or syncope
(and vice versa). Consider an arrhythmia, especially in the elderly.
3 Davis A, Bolin T, Ham J. Symptom Analysis and Physical Diagnosis (2nd edn). Sydney:
Pergamon, 1985.
4 Sandler G, Fry J. Early Clinical Diagnosis. Lancaster: MTP Press, 1986: 327–59.
5 Robinson MJ, Roberton DM. Practical Paediatrics (5th edn). Melbourne: Churchill
Livingstone, 2003: 501–2.
6 Merriman A. Handbook of International Geriatric Medicine. Singapore: PG Publishing,
1989: 99–100.
7 Abumuaileq R. Atrial fibrillation in the old/very old: prevalence and burden, predisposing
factors and complications. E-Journal of Cardiology Practice, 13 Mar 2019; 17(1).
8 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2018: 286–9.
9 O’Connor S, Baker T. Practical Cardiology. Sydney: MacLennan & Petty, 1999.
10 Cardiovascular [published 2018]. In: Therapeutic Guidelines [digital]. Melbourne: Page 735
Therapeutic Guidelines Limited; 2018. www.tg.org.au, accessed October 2019.

11 Pedersen CT et al. EHRA/HRS/APHRS expert consensus on ventricular arrhythmias.

Europace, 2014; 16(9): 1257–83.

12 Corcoran S, Lightfoot D. Palpitations: how to treat. Australian Doctor, 13 March 2009: 60 Sleep disorders
33–40.

13 Barton S, ed. Clinical Evidence. London: BMJ Publishing Group, 2001: 1–6.

14 Wyse DG et al. The Atrial Fibrillation Follow-up Investigation of Rhythm Management

(AFFIRM) investigators. NEJM, 2002; 347(23): 1825–33. Sleep . . . the first great natural resource to be exhausted by modern man. The erosion of the
nerves, not to be halted by any reclamation project, public or private.
15 Ross DL. Cardiac arrhythmias. In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 93–6. IRWIN SHAW, ‘THE CLIMATE OF INSOMNIA’, THE NEW YORKER, 1949

Sleep is a fundamental need in humans. Disorder of this basic function is one of the most
common health-related problems presenting to the GP. It may represent the clue to some very
important disorders, such as depression, anxiety, adverse drug reactions, drug abuse and
obstructive sleep apnoea (OSA), which is the most common form of sleep disordered breathing.
About half of the population report having some sleep-related problem in a year, and 25% of the
Australian population report trouble getting enough sleep when asked.1 Normal sleep
requirement varies considerably.

EEG studies indicate that sleep is divided into rapid eye movement (REM—also called dream
sleep) and non-rapid REM sleep (NREM), which is subdivided into stages 1, 2, 3 and 4. Most
stage 4 sleep (deepest) occurs in the first hours. REM sleep is accompanied by dreaming and
physiological arousals; some dreaming occurs in NREM.

Disorders of the sleep–wake cycle, which are invariably caused by a disruption of the body’s
endogenous time clock, can result in insomnia or hypersomnolence (excessive sleepiness) or a
combination of both. This is familiar to shift workers and people with jet lag.

Key facts and checkpoints

Normal sleep: in a fit young person the ideal is 7.5–8 hours; latency <30 minutes;
wakefulness within sleep usually <5% of time.

Humans can stay awake without a problem for 16–18 hours. Sleepiness is wake-
state instability.

The evaluation of sleep disorders involving the sleep–wake cycle is enhanced by

the patient keeping a sleep chart.

It is important to take a drug history from those complaining of insomnia or

hypersomnolence.
 Drugs that can disturb sleep include alcohol, nicotine, antihistamines, SSRIs, Hypersomnolence disorder
caffeine, hypnotics, venlafaxine, selected β-blockers (e.g. propranolol), β2-agonists, Narcolepsy
theophylline, corticosteroids, sympathomimetic agents. Breathing-related sleep disorders
Sleep disorders in children, including snoring, should be taken seriously and obstructive sleep apnoea/hypopnoea
investigated. They have many potential consequences, such as learning and central sleep apnoea
behavioural difficulties, hyperactivity, failure to thrive and short stature. central alveolar hypoventilation syndrome
Circadian rhythm sleep disorders
A claimed or actual presentation of insomnia accompanied by a medication
request, particularly by a younger person, can reflect benzodiazepine dependency. Non-REM* sleep arousal disorder
Nightmare disorder
People with OSA usually present with the TATT syndrome—‘tired all the time’—or REM* sleep behaviour disorder
excessive daytime sleepiness. These patients are often unaware of waking or Restless legs syndrome
becoming aroused during the night.
Substance- or medication-induced sleep disorder
A patient who snores, has witnessed apnoeas and sleepiness is likely to have OSA.
*REM = rapid eye movement
The majority of cases of excessive somnolence are caused by OSA and
narcolepsy.2
Many conditions may disturb breathing during the night (see FIG. 60.1 ). Nocturnal dyspnoea
Non-pharmacological therapies, which include basic education and practice of may result from cardiac causes (mitral stenosis, ischaemic cardiomyopathy, cardiac arrhythmias,
sleep hygiene and behavioural therapy, should be used in management wherever fluid overload or retention), which usually present with orthopnoea, pulmonary crepitations and
possible. peripheral oedema. Asthma is another common cause of nocturnal dyspnoea, cough (with or
without wheeze) occurring classically between 2 am and 5 am. Gastro-oesophageal reflux with
Referral to a specialist sleep disorder centre provides enhanced objective or without aspiration may disturb respiration at night, but it usually presents with daytime or
evaluation, diagnosis and treatment of the more complex disorders. postural reflux. All these conditions can usually be differentiated from sleep apnoea clinically or
with further investigation.
It is illegal for a driver with a commercial driver’s licence to continue to drive while
suffering from untreated OSA.

Sleep-related disorders
Disorders of sleep are a common and significant contribution to community illness and death.
Those with severe OSA have more than twice the risk of death compared to those without OSA
(HR=2.1), mainly from cardiovascular and motor vehicle accident related deaths. CPAP
treatment reverses much of this excess mortality.3 A classification of sleep disorders is presented
in TABLE 60.1 .4

Page 736

Table 60.1 Classification of sleep and wake

disorders (DSM-5)4

Insomnia disorder
 sleep hygiene: the habits and physical conditions surrounding getting to bed. Check thyroid
status, especially hyperthyroidism.

Basic principles for managing insomnia4,5

Address anxiety about sleep.

Address maladaptive behaviours around sleep.

Address fear of further sleep disruption.

Consider predisposing dispositions.

Consider comorbidities.

Assess pharmacological options, but consider hypnotics only as a short-term measure.

Refer to a specialist if there are ongoing symptoms despite the above considerations.

Management5
1. Discuss and agree on the therapeutic objective (e.g. to reinstate sleep without medication). If
using hypnotics, consider formalising this agreement in a ‘contract’.

2. Sleep–wake history: take a sleep–wake history (preferably with a sleep diary) and evaluate
daytime functioning.

3. Exclude and treat any underlying problem (see TABLE 60.2 ).

FIGURE 60.1 Significant causes of sleep disturbance 4. Explanation and reassurance, including patient education handout.

The sleep apnoea syndromes are a common group of disorders that result in periodic 5. Sleep hygiene advice:
hypoventilation during sleep. They occur in about 2% of the general population in all age groups,
and in about 10% of middle-aged men. Try to recognise what helps the person to settle best (e.g. warm bath, music).

Establish a routine before going to bed.

Insomnia
Regular daytime exercise.
Insomnia is defined as the inability to initiate or maintain sleep. The person may complain of
difficulty getting to sleep or staying asleep, of frequent intermittent nocturnal arousals, early Regular time of arising.
morning awakening or combinations of these.
Avoid daytime naps.
A careful history is required because some individuals have unrealistic expectations Page 737
about the required amount of sleep they need or have misperceptions of how long they Avoid strenuous exercise close to bedtime.
have slept.
Avoid alcohol and drinks containing caffeine in the evening, especially close to retiring.
When taking the history, explore lifestyle factors, especially psychological reasons, painful
Avoid caffeine after midday.
conditions, drug use and abuse, appetite, energy, sexual issues and physical factors. Ask about
 Avoid a heavy evening meal within 3 hours of bedtime.
Table 60.2 Common causes of insomnia
Avoid smoking, especially in the evening.

Remove pets from the bedroom. Drugs (prescribed, illicit, stimulants, addictive, alcohol)
Anxiety, stress (esp. PTSD)
Use a suitable mattress and pillow for comfort and support.
Depression
Ensure a dark, quiet room for sleeping. Inappropriate sleep hygiene or lifestyle
Delirium and dementia
Avoid lights, including poorly screened windows and highly illuminated clocks in the room.
Biorhythm disruption, e.g. shift work, travel
Sleep-promoting adjuvants: Restless legs syndrome
Pain, e.g. carpal tunnel syndrome
Try a drink of warm milk before retiring. Sleep apnoea
Organise a comfortable, quiet sleep setting with the right temperature. Parasomnias—nightmares, sleepwalking
Physical disorders (e.g. CCF, arthritis, asthma)
Try a warm bath before bed. Bed-wetting
6. Non-pharmacological treatment: psychological and behavioural interventions are effective. Reflux disease
Various techniques should be adopted according to patient personality and preference, the Thyroid disorders (e.g. thyrotoxicosis)
clinician’s expertise and the available resources. These include relaxation therapy, meditation Menopausal symptoms
and stress management, which are all highly recommended. Other measures include sleep Snoring partner
restriction programs, cognitive behaviour therapy (first-line treatment), structured problem
Lower urinary tract symptoms with nocturia
solving and electromyographic feedback. Hypnosis is also worth considering.

7. Pharmacological treatment:6 it is advisable to avoid hypnotic agents as first-line treatment. If

any form of continuous agent is necessary, it is best to limit it to 2 weeks.
Delayed sleep phase syndrome
Options:
This circadian rhythm disorder is a differential diagnosis of common insomnia. Sufferers
temazepam 10 mg tablets (o) before bedtime struggle to fall asleep, which may be delayed by 2 or more hours beyond the socially acceptable
or conventional bedtime. Diagnosis is based on the history and sleep studies. People should
or follow their biological cues and factor in extra time to sleep. Hypnotics are discouraged.

consider other non-benzodiazepine options, e.g. GABA agents such as zopliclone, sedating
TIAs, melatonin PR, antihistamines (e.g. promethazine, doxylamine).
Note: Page 738
The cyclopyrrolone derivative zopiclone and the imidazopyridine derivative, zolpidem, are
non-benzodiazepine hypnotics with a similar action to the benzodiazepines represented by
temazepam. However, warnings have been issued about adverse neurological and psychiatric
reactions.6
Tricyclic antidepressants with sedative effects (e.g. amitriptyline) are often used as hypnotics
but should generally be avoided in the absence of depressive disorders, especially in older
people.
Sleep apnoea7
The term ‘sleep apnoea’ is used to describe cyclical brief interruptions of ventilation, each cycle
lasting 15–90 seconds and resulting in hypoxaemia, hypercapnia and respiratory acidosis,
terminating in an arousal from sleep (often not recognised by the person). The interruption is
then followed by the resumption of normal ventilation, a return to sleep and further interruption
of ventilation.
Sleep apnoea is broadly classified into obstructive and central types.
Obstructive sleep apnoea (OSA) refers to the presence of apnoeas (no breathing) and
hypopnoeas (abnormally low or shallow breathing) during sleep together with daytime
dysfunction, predominantly excessive daytime sleepiness. The effects include snoring (see Clinical effects of sleep apnoea syndromes4,7
FIG. 60.2 ).
Important clinical presentations include:

excessive daytime sleepiness and tiredness

nocturnal problems (e.g. loud snoring, heavy sweating, thrashing, ‘seizures’, choking, pain
reactions)

morning headache

subtle neuropsychiatric disturbance—learning difficulties, loss of concentration, irritability,

personality change, depression

sexual dysfunction, e.g. erectile dysfunction

FIGURE 60.2 Normal airway when sleeping
occupational and driving problems
Predisposing causes include:
Causes of excessive daytime sleepiness are presented in TABLE 60.3 . In OSA, sleepiness
diminished airway size (e.g. macroglossia, obesity, tonsillar-adenoidal hypertrophy) results from repeated arousals during sleep and the effects of hypoxaemia and hypercapnia on the
brain. Physical examination may reveal few or no signs.
upper airway muscle hypotonia (e.g. alcohol, hypnotics, neurological disorders; see
FIG. 60.3 ) Page 739

nasal obstruction Table 60.3 Causes of excessive somnolence

Inadequate sleep duration

Sleep apnoea syndromes
Narcolepsy
Endocrine (e.g. hypothyroidism, hyperparathyroidism, hypercalcaemia)
Drug induced
Purposeful sleep deprivation
Nocturnal myoclonus
Bereavement
Idiopathic
FIGURE 60.3 Sleep apnoea: obstructed airway when sleeping

Central sleep apnoea (CSA), which occurs when there is either brief or prolonged loss of
breathing during sleep, is less common (accounts for <10% of sleep-disordered breathing). It is
due mainly to neurological conditions such as brain-stem disorders leading to reduced ventilatory
drive, and neuromuscular disorders such as motor neurone disease. Cardiorespiratory disease and
regular opioid use are also risk factors. It requires specialist referral. Treatment of CSA is based
on optimal therapy for these underlying conditions and attending to lifestyle modification as
outlined below.
Management of sleep apnoea7
Referral to a comprehensive sleep disorder centre especially for overnight in-laboratory sleep
polysomnography (the gold standard diagnostic test) is advisable if this disorder is diagnosed or
suspected. Diagnosis requires recurrent apnoeas (i.e. absent airflow >10 seconds) or hypnoeas
(reduction in airflow >10 seconds) sufficient to cause fall in PaO2 or arousal failure occurring at
least 5 times an hour, association with snoring and symptoms of daytime sleepiness. An
apnoea/hypnoea index ≥5 is significant. Consider also the validated Berlin questionnaire8 or the nasal polypectomy
Epworth sleepiness scale.9
tonsillectomy
The general principles are as follows:
base of tongue surgery
1. Lifestyle modification
radiofrequency treatment to soft palate and base of tongue (‘somnoplasty’)
Weight loss (e.g. loss of 10–15%, e.g. 7–10 kg can significantly reduce severity).
bariatric surgery if indicated
Achieve physical fitness with regular exercise.
4. Oral appliances
Good sleep hygiene and adequate sleep hours (increase time in bed).
The mandibular advancement splint—a custom-made dental device that supports the
Reduce or cease sedatives/hypnotics. mandible and tongue during sleep to increase pharyngeal dimensions. An effective
alternative to CPAP.
Avoid alcohol for up to 3 hours before going to sleep and drugs in general.
5. Medication
Cease cigarette smoking (increases nasal resistance).
There are no reliable drug treatment options for OSA. Consider:
Medical management of nasal obstruction (e.g. short-course nasal decongestants) or 6-week
trial intranasal topical corticosteroids. amitriptyline 25–100 mg (o) nocte, in severe cases during REM sleep and intolerance of
CPAP
Obtain positional therapy, avoid supine sleep—sleeping on side is best. Consider neck
support. trial of corticosteroid sprays in children with mild OSA

2. Continuous positive airway pressure (CPAP)

CPAP is currently the most effective treatment for OSA (consider it for CSA)—the gold
standard treatment.

Delivered by facial (or nasal) mask.

Provides an air splint to the upper airway and prevents pharyngeal collapse.

Sleepiness and neurocognitive function improved. FIGURE 60.4 Influence of tonsils and adenoids on airways

Not tolerated by everyone.

Obesity hypoventilation syndrome (OHS)—Pickwickian
3. Surgery syndrome
In children, OSA is usually due to tonsillar and/or adenoid hypertrophy and is relieved by OHS may occur alone or secondary to OSA. The main features of the OHS patient are:
surgery (see FIG. 60.4 ). In adults, depending on the cause, the options are:
marked/morbid obesity
correction of the specific upper airway anatomical problem—up to 2% of problems
cyanosis or plethora
correction of nasal obstruction (improves snoring and OSA)
excessive daytime sleepiness
palatal surgery: uvulopalatopharyngoplasty for carefully selected patients—conventional or
laser assisted right heart failure
There is impaired breathing leading to hypercapnia (↑ PaCO2) and hypoxia. Diagnosis Page 740
hypnagogic hallucinations.
is by sleep studies. Treatment is weight loss plus CPAP. It is a complex problem with a
risk of premature death. Modafinil is used successfully in some countries.

Reflect on driving licence issues as appropriate.

Narcolepsy
Narcolepsy is a specific, permanent neurological disorder that is characterised by brief spells of
irresistible sleep during daytime hours in inappropriate circumstances, even during activity and
usually at times when the average person simply feels sleepy. It is uncommon with an incidence
of two to five per 100 000.
Features
Usual onset between adolescence and 30 years of age—in teens and 20s (but has been reported in
children as young as 2 years).
Tetrad of symptoms
Daytime hypersomnolence: sudden brief sleep attacks (15–20 minutes).
Cataplexy: a sudden decrease or loss of muscle tone in the lower limbs that may cause the
person to slump to the floor, unable to move. These attacks are usually triggered by sudden
surprise or emotional upset.
Idiopathic hypersomnia10
This type of excessive daytime sleepiness (EDS) can present similarly to narcolepsy without
cataplexy. The condition, which accounts for 5–10% of patients in sleep clinics with EDS, is
diagnosed despite adequate sleep and exclusion of other causes. They usually have non-
refreshing deep nocturnal sleep but, unlike narcolepsy, naps are not refreshing. The onset is
usually insidious before 30 years and persists for life. Treatment is usually based on
psychostimulant therapy to improve EDS.
Snoring
Definition
Snoring is a sonorous sound with breathing during sleep, caused by soft tissue vibrations in the
upper airways from the nose to the back of the throat. It is caused by partially obstructed
breathing during sleep (see FIG. 60.5 ).

Sleep paralysis: a frightening feeling of inability to move while drowsy (between sleep and
waking).

Hypnagogic (terrifying) hallucinations on falling asleep or waking up (hypnopompic

hallucination).

Several attacks per day are possible.

Diagnosis
The diagnosis is clinical through the taking of an appropriate history. If doubtful, include: FIGURE 60.5 Snoring: vibrations of tongue and soft palate
EEG monitoring
Features
sleep laboratory studies (sleep latency test—rapid eye movement is a hallmark)
Sometimes indicates OSA, especially in perimenopausal women7
Treatment5
Three times more common in obese persons
Treatment is mainly symptomatic and initiated by a consultant. Central nervous system
Generally harmless, but if very severe, unusual or associated with periods of no breathing (>10
psychostimulants (dexamphetamine, methylphenidate) are of proven effectiveness in increasing
s) assessment is advisable
alertness. Drug holidays from these drugs may be necessary.

Tricyclic antidepressants (e.g. clomipramine) are used to treat cataplexy, sleep paralysis and Aggravating factors9,11
 Obesity
Old age
Sleeping on the back
Sleep deprivation
Excess alcohol
Neck problems, especially a ‘thick’, inflexible neck
Various drugs, especially sedatives and sleeping pills
Hay fever and other causes of nasal congestion
Problems in the upper airways, such as nasal polyps, enlarged tonsils or a foreign Page 741
body (e.g. a piece of plastic or metal)
Endocrine abnormalities (e.g. acromegaly, hypothyroidism)
Management
If an examination rules out a physical problem causing obstruction in the back of the nose and
OSA, then the following simple advice can be given.
Obtain and keep to ideal weight.
Avoid drugs (including sedatives and sleeping tablets), alcohol in excess and smoking.
Treat nasal congestion (including hay fever) but avoid the overuse of nasal decongestants
(rebound effect).
For neck problems, keep the neck extended at night by wearing a soft collar.
Consider a trial of an intranasal device such as the Breathing Wonder, which is a hollow
intranasal plastic insert and may work for a subset of snorers, or the Clippie soft silicone ring
device. Pharmacists can advise about the range of such devices.
Try to sleep on the side. To avoid the tendency to roll on to the back at night, a maverick
method is to consider sewing ping pong balls or tennis balls on the back of nightwear, or wear
a bra or shirt with a pocket (with tennis ball) back to front.
Periodic limb movements (nocturnal myoclonus)
Periodic limb movements (PLMs) and restless legs syndrome are important causes of insomnia
and excessive daytime sleepiness. They may coexist in the same person. Periodic limb
movements, which are also referred to as nocturnal myoclonus or ‘leg jerks’, tend to occur
usually in the anterior tibialis muscles of the leg but can occur in the upper limbs. The prevalence
increases with age. Most people with PLMs are completely asymptomatic. The diagnosis is often
made during sleep studies.12 If troublesome, refer to a sleep clinic or neurologist.12
Medication
Medication that may help includes:
levodopa plus carbidopa (e.g. Sinemet 100/25, tablets before bedtime)
or
clonazepam 1 mg (o) nocte increasing to 3 mg (o) nocte
or
sodium valproate 100 mg (o) nocte
Sleep paralysis
This is the temporary inability to move or speak when falling asleep or upon awakening, with
intact consciousness. It is REM atonia. It can occur in the general population (8%) and about
30% of those with narcolepsy. It can be terrifying but is not dangerous.
Treatment is educational and preventive with optimal sleep hygiene.
Restless legs syndrome (RLS)
Restless legs syndrome is a rather common movement disorder of the nervous system where the
legs feel as though they want to exercise or move when the body is trying to rest. Sensations that
may be experienced include ‘twitching’, ‘prickling’ and ‘creeping’.13 The major complaint of
sufferers is of disruption both to sleep and of relaxing activities, such as watching television or
reading a book. Prolonged car or airplane travel can be difficult.
RLS is frequently an undiagnosed disorder because people often don’t complain about it to their
doctor. A US and European survey of adult GP patients suggested a 12% prevalence, with 2.5%
reporting an impact on quality of life.14
The diagnosis is made from the history—there are no special diagnostic tests.
Its prevalence increases with age so it mainly affects elderly people. Women are more prone to
get RLS and it is aggravated by pregnancy. The exact cause of primary RLS is not clear. It is not
related to exercise and does not appear to follow strenuous exercise.
Symptoms
There is an urge to move legs upon resting, particularly after retiring to bed. This urge is a
response to unpleasant sensations in the legs, especially in the calves. The sensations are
commonly and variously described as crawling, creeping, prickly, tingling, itching, contractions,
burning, pulling or tugging, electric shock-like. However, some people are unable to describe the
sensation or refer to it as simply a compulsion to move the legs.

In some, the arms are affected in a similar way. The symptoms seem to be aggravated by warmth
or heat. Many people with RLS also experience nocturnal myoclonus.

Secondary (medical) causes include:

anaemia (common)

iron deficiency (common)

uraemia

hypothyroidism

pregnancy (usually ceases within weeks of delivery) Page 742

drugs (e.g. antihistamines, anti-emetics, selective antidepressants, lithium, selective major

tranquillisers and antihypertensives)

Management

Iron studies should be performed and, if low, treat with iron (good evidence)15 and vitamin C
tablets (limited evidence outside those on haemodialysis). Advise that although RLS can come
and go for years, it usually responds well to treatment.
FIGURE 60.6 Stretching exercises for restless legs
Self-help advice

Perform activities that can reduce symptoms, for example, a modest amount of walking before Pharmacological treatment5
bedtime, massage or prescribed exercises (see FIG. 60.6 ).
If simple measures fail and iron supplementation is not indicated (i.e. ferritin >50 mcg/L), the
Note: Getting out of bed and going for a walk or run does not seem to help RLS. following may be effective: (taken before bedtime)

Good sleep hygiene, namely regular sleeping hours, gradual relaxation at bedtime, avoidance levodopa (+ benserazide or carbidopa) 100–200 mg (o) (especially if limb movements at sleep
of non-sleep activities in bed (e.g. reading, eating). onset are mild and infrequent [be aware of risk of augmentation, especially at higher dosage])

Diet: follow a very healthy diet. Avoid caffeine drinks, smoking and alcohol. For more severe symptoms consider low-dose dopamine agonists (first line):

Try keeping the legs cooler than the body for sleeping. pramipexole 0.125 mg (o), increasing weekly as tolerated to 0.75 mg

Exercises: a popular treatment is gentle stretching of the legs, particularly of the hamstring and or
calf muscles, for at least 5 minutes before retiring. This can be done by using a wide crepe
ropinirole 0.25 mg (o) increasing if tolerated to 0.5 mg, then weekly increases of 0.5 mg up to
bandage, scarf or other length of material around the foot to stretch and then relax the legs.
2 mg (usual dose) or 4 mg (maximum dose)

or use a gabapentinoid
 gabapentin 100–300 mg, increasing every 3–7 days to 1200 mg or beyond
or
pregabalin 75 mg, increasing every 3–7 days to max. 450 mg
Avoid continuing these medications indefinitely just because they were prescribed in the past.
Consider a trial of deprescribing (reducing with a view to ceasing the dose).
Benzodiazepines, particularly clonazepam, are often suggested, but have not been supported by
any quality evidence. Cabergoline, codeine, baclofen and propranolol may possibly be helpful.
Avoid carbamazepine, quinine, antipsychotics, antihistamines and antidepressants.
Bruxism (teeth grinding)
Bruxism is the habit of grinding, clenching or tapping teeth, which may occur while awake
(especially in children) or more commonly while asleep. The usual symptom is annoying, teeth-
grinding noises during sleep that disturb family members. It may result in headaches and TMJ
dysfunction in the person during the day. The cause may be a habit or a response to
subconsciously correct a faulty bite by making contact between the upper and lower teeth when
the jaws are closed. It is aggravated by stress and is more common in heavy alcohol drinkers and
SSRI users.
Page 743
Management
Educate the person to recognise, understand and try to overcome the habit.
Practise keeping the jaws (and teeth) apart.
Slowly munch an apple before retiring.
Practise relaxation techniques, including meditation, before retiring.
Consider other stress-management techniques (e.g. counselling, relaxation exercises, yoga and
tai chi).
Place a hot towel against the sides of the face before retiring to achieve relaxation.
If this fails and bruxism is socially unacceptable, a plastic night-guard mouthpiece can be
fashioned by a dentist to wear at night.
Parasomnias
Parasomnias are defined as dysfunctional or unusual behaviour episodes associated with sleep,
sleep stages or partial arousal. They are more common in children. Diagnosis is clinical.
Nightmares (dream anxiety)
These dream-related anxiety episodes usually occur later in the REM sleep period and are
accompanied by unconscious body movements, which usually cause the person to awaken.
Associations include traumatic stress disorders, fever, drug withdrawal (e.g. alcohol,
barbiturates, drugs such as zolpidem, SSRIs, beta blockers, benzodiazepines, mirtazapine).
Violent behaviour can occur during these dreams due to a REM behaviour disorder and this
requires a sleep study and specialist evaluation.
Psychological evaluation with cognitive behaviour therapy (CBT) is appropriate. Medications
that may help include phenytoin or clonazepam.
REM sleep behaviour disorder
A feature is complex and elaborate motor activity associated with dreams. The behaviour may be
violent with profane verbalisation. It is more common in older males and among those with CNS
degeneration disorders (e.g. dementia, Parkinson disease). Diagnosis is by sleep studies and
treatment is low-dose clonazepam.
Somnambulism (sleepwalking)2
This is a complex motor activity in which the person performs some repetitive activity in bed or
walks around freely while still asleep. There is amnesia for the event. No treatment is usually
required but, if it is repetitive and potentially dangerous, then the sleeping environment should be
rendered safe. Psychological assistance is required for recurring episodes. Benzodiazepines such
as clonazepam 0.5–2 mg (o) nocte may temporarily help, but withdrawal usually leads to
rebound problems.
Sleep-related leg cramps
These usually occur in the muscles of the calf and foot. Prevention is by stretching the affected
muscles for several minutes before sleep. Magnesium is often promoted as a preventative, but
clinical trials suggest its effect is either minimal or non-existent.16 Refer to CHAPTER 55 .
Sleep terrors
These are part of the same non-REM sleep cycle disorder as somnambulism. Characteristics of
night terrors are sharp screams, violent thrashing movements and autonomic overactivity,
including sweating and tachycardia. The sufferers, usually preadolescent, may or may not wake
and usually cannot recall the event. They also require psychological evaluation and therapy.
Similar medication as used for nightmares may help (e.g. a 6-week trial of phenytoin or
clonazepam).

Sleep disorders in children
Sleep disorders in children are very common in late infancy, toddlerhood and early preschool age
groups. By 3 months 70% begin to sleep through the night. Over 50% of toddlers and preschool
children resist going to bed.12 At least 30% of infants and toddlers wake at least once during the
night every night. Toddlers begin to have dreams coinciding with language development in the
second year of life.17
The child who wakes during the night needs reassurance, protection and the parent’s presence,
but ideally given discreetly without too much ‘fuss’. Although psychosocial stresses can trigger
sleep problems, serious psychological problems in children with sleep disorders are
uncommon.18
Management17
If both parents are caregivers, aim to see them together and get them to agree on the approach,
including sharing the workload. Check that they both agree that the aim is to have the child sleep
through the night with no or minimal parental attention. If that is the case (it usually is if they
come to the GP), advise the following:
Unless you are happy to have your child regularly sleeping with you, resist taking them into
bed during the night.
Beware of giving much attention to your child in the middle of the night—it encourages
repeated desire for attention in future nights.
Avoid extra feeding or other pacifiers during the night. Page 744
Return the child to bed promptly and spend only a brief time to give reassurance.
A regular series of rituals performed before bedtime helps the child to develop a routine.
Settling to sleep may be assisted by soft music, a soft toy and a gentle night light.
Take the child into the bedroom while still awake.
A sleep diary can be a useful tool.
Sedative medication has a minimal place in the management of sleep disturbances,5 and is not
recommended for children <2 years although the judicious use of a sedative/hypnotic for a short
term may break the sleepless cycle. Such drugs include promethazine 0.5 mg/kg (max. 10 mg)
and trimeprazine (Vallergan) 1–2 mg/kg per dose (not for infants under 6 months).17
Parasomnias (sleep terrors, sleep walking and sleep
talking)2
These are not true sleep disorders or night-time arousals. They occur in deep non-REM sleep.
With sleep terrors, which usually develop within 2 hours of sleep and last 1–2 minutes, the child
is usually inconsolable and has no memory of the event. These events cluster in age ranges:
sleep terrors 4–8 years
sleep walking 8–12 years
sleep talking 6–10 years
nightmares 3–6 years
They are self-limiting over a period of months. Usually, no active treatment is needed but for
persistent, severe problems a 6-week trial of phenytoin, diazepam or imipramine is worthwhile.
Sleep problems in older people
The elderly constitute the bulk of long-term users of hypnotics and benzodiazepines. Two key
issues to consider are the benefits of sleep and the risk of confusion. Problems associated with
long-term benzodiazepine use are dependence, confusion, memory impairment and falls.
A study of older people with insomnia showed that:19
25% had insomnia either coexisting with or related to other sleep disorders, such as sleep
apnoea or periodic limb movement disorder
10% had insomnia related to medical or psychiatric conditions
13% had insomnia associated with an inability to stop taking sedative-hypnotic agents
Principles of management in older people
Exclude underlying causes of sleep disturbance.
Educate older people and their carers about the changing needs with ageing and the rational
use of medicines.
Avoid hypnotics if possible.
Avoid hypnotics combined with alcohol.
Beware of risks of long-term use and drug accumulation.
Consider non-drug measures where possible (e.g. CBT).
Avoid the ‘why bother changing’ factor when carers and patients are comfortable with
hypnotics.
 In nursing homes, practise ‘bothering’ and use team effort to encourage less prescribing. 2019.

8 Netzer NC et al. Using the Berlin questionnaire to identify patients at risk for the sleep
Medication5 apnea syndrome. Ann Intern Med, 1999; 131(7): 485–91.
If medication is necessary, prescribe a short-acting benzodiazepine for as limited a time as 9 Johns MW. A new method for measuring daytime sleepiness: the Epworth sleepiness
possible. An alternative non-benzodiazepine hypnotic (e.g. zopiclone or zolpidem) taken just scale. Sleep, 1991; 14(6): 540–5.
before retiring may be useful in the elderly (beware of adverse effects). Consider melatonin
prolonged release medication. Tricyclic antidepressants with a sedative action are frequently 10 Desai A, Kwan B. Excessive sleepiness of non-sleep-apnoea origin: how to treat.
used, especially if there is coexistent depression, but side effects limit their use. However, Australian Doctor, 15 May 2009: 25–32.
commonsense prescribing needs to be used and the best option may be to continue the long-term
prescribing of hypnotics in those with chronic medical problems or long-term dependence on a 11 Killick R, Grunstein R. Obstructive sleep apnoea. Medical Observer, 21 November 2008:
low effective dose. 27–9.

12 Laks L. Sleep disorders. Check Program 346. Melbourne: RACGP, 2000: 3–10.
Patient education resources
13 Thyagarajan D. Restless legs syndrome. Australian Prescriber, 2008; 31: 90–3.
Hand-out sheets from Murtagh’s Patient Education 7th edition:
14 Sommer DB, Stacy M. Epidemiology and pathophysiology of restless legs syndrome.
Sleep problems: insomnia touch Neurology, 4 June 2011. Available from: https://touchneurology.com/movement-
disorders/journal-articles/epidemiology-and-pathophysiology-of-restless-legs-syndrome-
Restless legs syndrome 2/, accessed March 2021.
Sleep problems in children 15 Trotti LM, Becker LA. Iron for the treatment of restless legs syndrome. Cochrane
Database of Syst Rev, 2019; Issue 1.
References 16 Garrison SR et al. Magnesium for skeletal muscle cramps. Cochrane Database of Syst Rev,
2020; Issue 9.
1 Wilson CW, Lack L. Sleeping habits of people living in the Adelaide metropolitan area—a
telephone survey. Australian Psychologist, 1983; 18: 368–76. 17 Gwee K, Rimer R, Marks M. Paediatric Handbook (9th edn). Oxford: Wiley-Blackwell,
2015: 370–5.
2 Tiller JWG, Rees VW. Sleep disorders. In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 475–8. 18 Ramchandani P et al. A systemic review of treatments for settling problems and night
waking in young children. BMJ, 2000; 320: 209–13.
3 Fu Y et al. Meta-analysis of all-cause and cardiovascular mortality in obstructive sleep
apnea with or without continuous positive airway pressure treatment. Sleep Breath, 2017; 19 Morin CM et al. Behavioral and pharmacological therapies for late-life insomnia: a
21: 181–9. randomised controlled trial. JAMA, 1999; 281(11): 991–9.

4 Cunnington D, Junge M. Chronic insomnia: diagnosis and non-pharmacological

management. BMJ, 2016; 355: 5819.

5 Insomnia, circadian rhythm disorders and parasomnias [published 2021]. In: Page 745
Therapeutic Guidelines [digital]. Melbourne: Therapeutic Guidelines Limited;
2021. www.tg.org.au, accessed October 2019.

6 Prescribing benzodiazepines—ongoing dilemma for the GP. NPS News, 2002; 24: 1–2.

7 Sleep disordered breathing [published 2020]. In: Therapeutic Guidelines [digital].

Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed October
 Page 746
61 Sore mouth and tongue
The key to managing diseases of the oral mucosa is to evaluate lifestyle factors carefully,
including causes of immune suppression.
DR JONATHAN TVERSKY 2002
Evaluating the sore mouth and tongue is basically an understanding of disorders of the oral
mucosa. Disorders of the oral mucosa are a common problem in general practice, with recurrent
aphthous ulceration being the most common oral mucosal disease in humans.
There are three types of stratified squamous epithelium in the oral mucosa:1
1. masticatory—surface layer, cornified (orthokeratinised), attached to underlying periosteum
(e.g. hard palate and gingivae)
2. lining—(e.g. lip and buccal mucosa, alveolar mucosa, floor of mouth, soft palate and tongue—
lateral and undersurface)
3. specialised—with taste buds and papillae, e.g. on dorsum of tongue
Red flag pointers for oral conditions
Dehydration in children with herpetic gingivostomatitis
Petechiae on soft palate with gingivostomatitis or pharyngotonsillitis
Oral ulcers and skin disorders
Oral ulcers (especially solitary) or soft tissue lesions persisting for >3 weeks
Oral ulcers and bowel dysfunction
Oral candidiasis (may indicate diabetes or other immunosuppression)
Glossodynia may indicate psychological disorder (e.g. depression)
Oral ulceration
The histology of oral ulceration is usually non-specific, with fibrin slough covering granulation
tissue, and the aetiology is varied. The ulceration is a breach in the epithelial compartment with
inflammatory cell infiltrate in the submucosa. The most common form is recurrent aphthous
ulceration. Always inquire about a history of skin problems, medication, bowel function and
psychological stress.
Key facts and checkpoints
Dental trauma or neglect is an important cause of many oral mucosal disorders,
such as ulceration, bleeding gums and hyperplasia.
Non-healing oral ulcers warrant biopsy to exclude squamous cell carcinoma (SCC).
If oral mucosal cancer is suspected, palpate the lesions to check for induration or a
firm, discrete edge and check regional nodes.
Any oral ulcer or soft tissue lesion that persists 3 weeks after the apparent cause
has been removed should be biopsied. The initial ‘cause’ (e.g. tooth biting lip) may
be just the trigger for noticing the lesion.
Consider Epstein–Barr virus (EBV) infection with unusual faucial ulceration and
petechial haemorrhages of the soft palate.
Aphthous ulcers are usually 3–5 mm in diameter—minor ones have an
erythematous margin.
Intraoral bony exostoses, other than palatal and mandibular tori, are often
variations of normal, or less commonly part of a syndrome, e.g. Gardner syndrome.
No treatment is usually required.2
Shared care of more complex lesions of the mouth and tongue with an oral or
dental surgeon is best practice.
A list of causes is presented in the diagnostic strategy model (see TABLE 61.1 ). Depending on
the clinical picture, investigations may include FBE, swabs, autoantibody screen, syphilis
serology, blood sugar, vitamin B12 and folate levels, and biopsy.
Page 747
Table 61.1 Mouth ulcers: diagnostic strategy
model
Probability diagnosis
Recurrent aphthous ulceration Recurrent aphthous ulceration
Trauma, e.g. sharp broken tooth
Aphthous ulcers are round/oval ulcers usually 3–5 mm in diameter with an erythematous margin
Acute herpes simplex infection and sloughing base.
Candidiasis
Aphthous ulcers occur in all ages on un(para)-keratinised mucosa such as the buccal and labial
Serious disorders not to be missed mucosa and the floor of the mouth (not on orthokeratinised mucosa) (see FIG. 61.1 ). The
Cancer: SCC, leukaemia lifetime frequency of aphthous ulcers in the population is perhaps 20%. The cause is unknown,
Agranulocytosis although human herpes virus 6 has been implicated, as have nutritional and autoimmune factors.3
People with recurrent aphthous ulcers have a genetic predisposition.
Severe herpetic gingivostomatitis
HIV
Syphilitic—chancre or gumma
Tuberculosis
Pitfalls (often missed)
Aspirin burn
Inflammatory bowel disease (e.g. Crohn)
Herpes zoster virus
Glandular fever (EBV)
Lichen planus
Coxsackie virus:
herpangina
hand, foot and mouth disease FIGURE 61.1 Apthous ulcer located on unkeratinised (movable) mucosa in a
Immunosuppression therapy 5-year-old girl
Lupus erythematosus
Coeliac disease Precipitating factors
Rarities: Trauma (e.g. cheek and tongue biting, toothbrush, dental pressure)
Behçet syndrome
pemphigoid and pemphigus vulgaris Drug reaction (e.g. new medication)
erythema multiforme Stress
radiation mucositis
Allergy
Seven masquerades checklist
Diabetes (Candida) Systemic factors (e.g. iron, folate, vitamin B12 deficiency, hormonal)
Drugs Note: Exclude blood dyscrasias, Crohn disease, Behçet syndrome, coeliac disease, drug therapy
Anaemia (iron-deficiency) (e.g. phenytoin, cytotoxics, corticosteroids, immunosuppressants).
Is the patient trying to tell me something?
Rules
Unlikely.
 Minor ulcer <5 mm in diameter: lasts 5–10 days and heals without scarring injection of steroids into the base of the ulcer

Major ulcer >8 mm: can persist for up to 6 weeks3 and/or

Major ulcers usually occur on lips, soft palate and fauces and sometimes on the tongue oral prednisolone 25 mg daily, 5–7 days4

Minor ulcers are usually found on the buccal and labial mucosa and the floor of the mouth Referral: Patients with a non-healing ulcer within 3 weeks of presentation.

Non-healing ulcers: consider SCC (biopsy required) Complementary measures

Recurrent ulcers: consider Behçet syndrome. Check serum iron and folate
DxT recurrent oral and genital ulcers + uveitis + arthritis → Behçet
syndrome
1. Teabag method. Consider applying a wet, squeezed-out, black teabag directly to the ulcer
regularly (the tannic acid promotes healing). Must be used when ulcer is worse.
2. Melaleuca (tea-tree) oil. 1% tea-tree oil used as a mouth rinse for 1 minute has been shown to
prevent secondary infection.5

Treatment Traumatic ulceration

There are multiple methods but none are specific. This is commonly caused by sporting injuries, biting of the cheek or lip, and hot food.

Page 748 Factitious causes include scratching of an ‘itchy’ mouth or over-brushing of the teeth.
Symptomatic relief
Other relevant causes include dentures, sharp tooth surfaces, orthodontic bands and sharp
topical lignocaine (e.g. 2% jelly or 5% ointment) with cotton bud: after 2 minutes apply objects such as pencils and hard food.
lignocaine gel or paint (e.g. SM-33 adult paint formula or SM-33 gel children) every 3 hours
Aspirin ‘burns’ are caused by people leaving salicylate-based tablets to dissolve against oral
or mucosa.

eutectic EMLA cream 5%—apply on a cotton bud or gauze for 5 minutes Iatrogenic causes include surgical procedures such as intubation and endoscopy, and dental
treatment such as retractors and removing dry cotton rolls.
Healing: options4
Management1
Triamcinolone 0.1% (Kenalog in Orabase) paste, apply three times daily after meals and nocte
(preferred method but be careful of herpes simplex ulcers). Explanation, including removal of the cause.

Other topical steroids (e.g. betamethasone 0.05% ointment, hydrocortisone 1%). Apply Warm salt-water mouthwashes, and/or local anaesthetic mouthwashes:
topically to lesion bd after meals.
benzocaine compound (Cepacaine), swirl in mouth 10–15 mL for 10–15 seconds and expel,
Hydrocortisone lozenges (if available)—dissolve in contact with ulcer, qid. every 3 hours prn

Beclomethasone dipropionate 50 mcg spray onto ulcer tds. or

All of the above treatments have been shown to be effective in controlled trials. benzydamine hydrochloride (Difflam), swirl in mouth 15 mL for 30 seconds and expel

Major ulceration These ulcers can take up to 10 days to resolve.

Consider: Lichenoid drug reaction

Several drugs can induce a lichenoid drug reaction of the oral mucosa; that is, cause shallow
mucosal erosions similar to lichen planus. The drugs include gold, the NSAIDs, carbimazole,
selected antihypertensives and cytotoxics.

Herpes infection
Herpes simplex virus is a fairly common cause of oral lesions.

Primary herpetic gingivostomatitis is usually obvious but herpes infection has an extraordinary
ability to present in many ways. It can spread from the hands to the mouth.

Application of a topical corticosteroid, such as Kenalog in Orabase, can aggravate and spread
the herpetic lesion.
FIGURE 61.2 Leukoplakia showing white patch below tongue
Treatment: aciclovir or similar antiviral if seen early, e.g. 48 hours from onset; fluids + +;
analgesic mouth rinses, e.g. Difflam; consider admission for IV aciclovir and hydration. Specific conditions causing red and/or white patches follow.

Lesions of herpes zoster virus affecting the maxillary division of the trigeminal nerve, for
example, can involve the buccal mucosa in a unilateral pattern.
Red patches
A reduction in the surface epithelial layer causes erythematous patches. Causes include trauma
(e.g. cheek biting), infection (e.g. Candida albicans), geographic tongue, haematologic disorders,
the dermatoses and neoplasia.
Neoplasia that can look red includes squamous cell carcinoma, Kaposi sarcoma and Page 749
erythroplakia. Erythroplakia is similar in significance to leukoplakia except for the
erythematous feature. It is an important condition to recognise since about 90% of cases are
either dysplastic or cancer.6
Oral candidiasis (thrush)
This is usually tender and looks like white or yellowish curd-like patches overlying erythematous
mucosa. Unlike lichen planus or leukoplakia, they are usually readily rubbed off, after which
only the underlying red patch may be seen.
Patients may also complain of a bad metallic taste or halitosis and dysphagia. They often
complain of sensitivity to toothpaste or acidic substances in general.
Consider predisposing factors:
immunodeficiency and cytotoxic therapy
medication, especially broad-spectrum antibiotics and corticosteroids, including inhalers

debility and anaemia (iron, folic acid, vitamin B6 deficiency)

White patches
White patches occur where the epithelial compartment thickens. Causes include inflammation
due to trauma or infection, especially Candida, dermatoses and neoplasia.
An interesting condition is hyperkeratotic burns on the dependent floor of the mouth, which
appear white. Causes include tea-tree oil mouthwash and the sucking of aspirin.
Leukoplakia is any white lesion that cannot be removed by rubbing the mucosal surface (unlike
oral candidiasis). About 5% of cases represent either dysplasia or early SCC.6 Any persistent
white patch should be biopsied (see FIG. 61.2 ).
diabetes mellitus and HIV infection
The carriage rate of Candida albicans in the oral cavity is 60–75%. The diagnosis is made
clinically but a wet preparation using potassium hydroxide will reveal spores and perhaps
mycelia.
Treatment
Attend to underlying cause. Consider dental hygiene multivitamin preparations. Antifungal
agents should not be used until the fungal infection is confirmed.5

Topical therapy
 nystatin 100 000 U/mL suspension, rinse and swallow qid after food: place 1 mL under the
tongue then swallow Table 61.2 Bleeding/painful gums: diagnostic strategy
model (modified)
or

miconazole oral 2% gel (as directed by manufacturer) Probability diagnosis

Gingivitis/periodontal (gum) disease
or
Trauma: poor-fitting or partial dentures
amphotericin 10 mg or nystatin 100 000 U lozenges dissolved slowly in oral cavity, 6 hourly, Factitious: excessive brushing
for 7–14 days. Avoid with a severe dry mouth. Drugs: warfarin

Oral therapy Serious disorders not to be missed

Oral cancer/benign neoplasms (e.g. epulis)
Use if unresponsive to topical therapy and the immunocompromised:5
Blood dyscrasias (e.g. AML)
fluconazole 50 mg (o) daily for 7–14 days Acute herpetic gingivostomatitis
Pitfalls (often missed) but uncommon
Denture therapy1
Acute ulcerative gingivitis (Vincent infection, trench mouth)
Dentures need to be decontaminated, especially if acrylic. Use: Autoimmune disease (e.g. lichen planus, SLE)
Hereditary haemorrhagic telangiectasia
chlorhexidine denture scrub (care with bleaching), or
Malabsorption
dilute Milton’s denture scrub (e.g. ¼ teaspoon White King in a cup of water) Scurvy

Keep dentures in a dry place at night when not being worn.

If oral thrush, brush the dentures each night with a thin coat of nystatin cream or oral Acute necrotising ulcerative gingivitis (Vincent infection or trench mouth) caused by anaerobic
miconazole. organisms is rarely seen but is more common in undernourished or ill young adults under stress.

Angular cheilitis Gingivitis

Feature is redness, soreness and maceration of the corners of the mouth. Usually associated with Caused by plaque (bacterial biofilm) with calculus (tartar secondary to poor oral hygiene).
oral candidiasis. Consider poor-fitting dentures, diet—vitamin B deficiency, iron deficiency and
atopic or seborrhoeic dermatitis. Treat with topical nystatin or miconazole. ‘Golden’ crusting Features
indicates S. aureus.
Red, swollen gingivae adjacent to teeth (see FIG. 61.3 )
Page 750
Bleeds with gentle probing
Bleeding or painful gums
Halitosis
Erythematous bleeding gums are a common worldwide problem, which is almost always a
Usually no pain
localised inflammation associated with poor dental hygiene.7 Systemic problems usually as part
of a bleeding diathesis need to be considered.

The causes are summarised in the diagnostic strategy model (see TABLE 61.2 ).
 FIGURE 61.3 Gingivitis, showing plaque and gingivitis
Treatment4,7
Dental care—remove plaque and clean
Cease smoking
Mouthwash: chlorhexidine 0.2 or 0.12% aqueous solution 10 ml for 1 minute 8–12 hourly for
10 days or until pain abates (beware of superficial discolouration of teeth with prolonged use)
Acute ulcerative gingivitis
This is a very painful form of gingivitis. Treatment is as for gingivitis but add antibiotics, e.g.
metronidozole 400 mg (o) 12 hourly or tinidazole 2 g (o) single dose and drain pus from any
associated abscesses.4
Periodontitis
This is inflammation of the periodontal space. It is a sequel to gingivitis and shows periodontal
ligament breakdown with recession or periodontal pocketing and alveolar bone loss. There is
possible loosening of teeth and periodontal abscess formation (see FIG. 61.4 ). An underlying
medical condition must be suspected.
FIGURE 61.4 Periodontitis with more widespread gingival inflammation that
invades the supporting alveolar bone
Risk factors are smoking and diabetes.
Treatment is meticulous dental treatment and mouthwashes. Antibiotics are rarely required.4
Prevention of gingival disease
Use a fluoride, abrasive type of toothpaste.
Brush with a medium-to-soft, nylon-tufted, small-headed toothbrush.
Direct brush at gingival margin with a small horizontal motion. Page 751
Keep interdental spaces clean with dental flossing in a vertical direction or tooth picking.
Regular dental review—eliminate plaque.
Oral dermatoses
The dermatoses include lichen planus, pemphigus vulgaris (uncommon), mucous membrane
pemphigoid (uncommon) and lupus erythematosus. The clinical appearance of these conditions
in the mouth is quite different to the skin condition because of the environment, especially due to
the presence of saliva.
Diagnosis
Histopathological examination (after appropriate biopsy) with immunofluorescence is
recommended, especially because of the similarity of the lesions of lupus erythematosus and
lichen planus, which are both considered to be potentially premalignant in the mouth.8
Clinical features
Lichen planus: elderly.

affects 2% of the population, usually over 45 years
can vary from asymptomatic to severely painful
usually white lace-like patterns on mucosa, cheeks and tongue
Investigations may include an FBE, serum vitamin B12, folate and ferritin levels, a swab or a
biopsy of a suspicious lesion.
A diagnostic strategy with lists of causes is presented in TABLE 61.3 .

may form superficial erosions Table 61.3 Sore tongue: diagnostic strategy model
Lupus erythematosus:
Probability diagnosis
oral lesions may be first sign of SLE
Geographic tongue
usually on lateral aspects of the hard palate Atrophic glossitis
Trauma (bites, teeth, hot food/drink)
can resemble lichen planus
Aphthous ulceration
Herpes simplex virus (children)
Treatment
Fissured tongue
Consider specialist referral.
Disorders not to be missed
Oral hygiene and pain control: Cancer
Agranulocytosis (?drug induced)
chlorhexidine mouthwash
HIV
or
Pitfalls (often missed)
tetracycline/nystatin mouthwash Anaemia: iron, vitamins B6 and B12, folate deficiency
Citric acid-containing foods
or
Glossopharyngeal neuralgia
topical analgesics (e.g. lignocaine preparation) Lichen planus
Fissured tongue (rarely causes soreness)
Corticosteroids:
Median rhomboid glossitis
topical (e.g. Kenalog in Orabase; betamethasone dipropionate 0.05%) Behçet syndrome
Crohn disease
intralesional (e.g. triamcinolone 10 mg/mL, especially for lichen planus)
Coeliac disease
systemic—may be necessary in severe cases Seven masquerades checklist
Depression
The painful tongue9 Diabetes (Candida)
Pain in the tongue is a reasonably common symptom in general practice. The cause is usually Drugs (mouthwashes, aspirin)
obvious upon examination, but there are some obscure causes. As for many other oral mucosal Anaemia (various)
problems, shared care with a dental or oral medical specialist is important. The causes of a sore
or painful tongue are similar to that of the sore throat or mouth. Xerostomia is common in the Is the patient trying to tell me something?
 Possible with glossodynia. patches and raised whitish grey edges, the pattern resembles a relief map with mountain ridges.
The border changes shape within weeks. It is irregular and slightly reddened. See FIG. 61.6 .

Tongue tips
Look for evidence of trauma, especially from a sharp tooth.

A miserable child with a painful mouth and tongue is likely to have acute primary herpetic
gingivostomatitis or hand, foot and mouth disease.

When taking the history, take note of self-medications, especially sucking aspirin, a Page 752
history of skin lesions (e.g. lichen planus) and consider underlying diabetes or
immunosuppression.

A long history of soreness with spicy or other foods indicates benign migratory glossitis
(geographic tongue) or median rhomboid glossitis (see FIG. 61.5 ).

Any non-healing or chronic ulcer requires urgent referral.

Macroglossia (large tongue): consider acromegaly, myxoedema, amyloidosis, lymphangioma.

Strawberry tongue: consider scarlet fever, Kawasaki disease.

Glossodynia (painful tongue): characteristically presents as a burning pain on the tip of the
tongue.9 It can be a real ‘heartsink’ presentation. Consider depressive illness as an underlying
cause.
FIGURE 61.6 Geographic tongue (benign migratory glossitis). Note the pink
continents among the white oceans.
(Reproduced with permission from Gonsalves WC, Chi AC, Neville BW. Common oral lesions: Part I. Superficial mucosal lesions.
Am Fam Physician, 2007; 75(4): 501–7.)

It is considered to be a hypersensitivity reaction but the offending allergen has not been
identified. Stress, tobacco, alcohol, marijuana and spicy foods can aggravate the condition in
some individuals.

Management
The condition is self-limiting and there is no specific therapy.

Explanation and reassurance is important.

FIGURE 61.5 Disorders of the tongue: (a) median rhomboid glossitis, (b)
geographic tongue, (c) black tongue No treatment is recommended if asymptomatic.

If tender, benzocaine compound (Cepacaine) gargle 10 mL tds.

Erythema migrans (geographic tongue)
If persistent and troublesome, low-dose inhaled glucocorticoid (e.g. beclomethasone 50 mcg
Also known as benign migratory glossitis, this benign condition shows changing patterns of tds—don’t rinse after use).
desquamatous areas and erythema on the dorsum and edges of the tongue. With the smooth red
 Page 753 dry mouth (xerostomia)
Black or hairy tongue Consider the underlying cause:
This is due to overgrowth of papillae or reduced wear of papillae, e.g. debility and lack of fibrous medications
foods.
haematinic deficiency—iron, folate, vitamin B12
Appearance: dark, elongated filiform papillae giving brownish appearance to dorsum
(posterior) of tongue. autoimmune disorder (e.g. Sjögren syndrome)
Symptoms: bad tastes and malodorous oral cavity. endocrine disorder (e.g. diabetes)

Causes psychological disorder

Unknown Management
Poor oral hygiene/debility Detailed history with exclusion of organic causes
Iatrogenic (e.g. antibiotics, major tranquillisers, corticosteroids) Provision of education and understanding

Treatment Promote lifestyle changes including stress management

Brush or scrape tongue to remove stained papillae. Use a topical keratolytic agent such as
salicylate, with pineapple being the most practical (95% cases are helped).
Method
Cut a thin slice of pineapple into eight segments. Slowly suck a segment on the back of the
tongue for 40 seconds and then slowly chew it. Repeat until all segments are completed. Do
this bd for 7–10 days.1 Repeat if recurs.
Note: The salicylate in pineapple can aggravate irritable bowel syndrome.
Consider sodium bicarbonate mouthwash.
Oral dysaesthesia (‘burning mouth’ syndrome)5
The classic chronic burning sensation of the oral cavity appears to have a neuropathic and/or
psychological basis.1 Symptoms include:
altered sensitivity—burning pain or ‘raw’ sensation, mainly of the tongue and mucosa of lips
altered taste—sweet, salty, bitter or metallic
altered saliva (subjective)—quality and quantity
altered tooth sensation (e.g. ‘phantom tooth pain’)
Consider specialist referral
Consider clonazepam 0.5–1 mg bd.
Dysguesia
This condition is a distortion of the sense of taste.
Causes include various drugs (notably the OTC andrographis-containing agents), various
antibiotics, anticholinergics and antidepressives, common cold, COVID-19, smoking, postnasal
drip and Sjögren syndrome.
Oral cancer
Cancer of the lip and oral cavity accounts for 2–3% of all newly diagnosed cancers in
Australia.10
SCC is the most common malignancy of the oral cavity, accounting for 90% of cases. It has a 5-
year survival rate of 65% without lymph node involvement and 50% with local node
metastases.11 Cancer of the lip is usually treated successfully by excisional biopsy but intraoral
cancer has significant morbidity and mortality.10
Other malignancies include mucoepidermoid carcinoma, lymphoma, Kaposi sarcoma and
malignant melanoma, which is usually found on the palate.
Predisposing or associated factors for SCC include tobacco and marijuana abuse, alcohol abuse,
excessive sunlight and immune suppressive disorders such as HIV, lymphoma and various
medications.

SCC is usually found as a chronic indurated ulcer on the ventral and lateral surfaces of the
tongue followed by the floor of the mouth and buccal mucosa. It may present as a white patch or,
more commonly, as a speckled white and red nodular patch or a red velvety patch.

The red patches of erythroplakia (in particular) and the white patches of leukoplakia may be
premalignant or early invasive cancer and necessitate further investigation, particularly incisional
biopsy.

Treatment for oral cancer is surgery ± radiotherapy and chemotherapy.

Benign intraoral swellings and tumours

Epulis
An epulis is a benign, localised gingival swelling. It is a very ancient term with no Page 754
pathological significance, meaning a ‘tumour situated on the gum’. There are two distinct types
—a fibrous epulis and giant cell epulis. An epulis emerges between two teeth from the
periodontal membrane where there is usually dental decay or a site of irritation, such as a partial
denture. It appears to be more common during pregnancy where the epulis has a more vascular
appearance.

Treatment is usually by excision, with histological examination, curettage of the origin and
extracting associated teeth. The ‘pregnancy’ epulis should be left for several weeks after
childbirth before treatment.

Typical locations of intraoral tumours are shown in FIGURE 61.7 .

FIGURE 61.7 Typical location of swellings in the oral cavity

Pyogenic granuloma
These may occur on the gums or oral mucosa of the lips and look like pyogenic granulomas of
the skin, which also are associated with minor trauma. They are best treated by excision.

Retention cysts (mucous cysts)

The oral mucosa contains numerous mucous cysts and accessory mucous and serous salivary
glands.
Small retention cysts are probably caused by minor trauma to the duct. They may rupture occurs inside the mandible, opposite the premolar teeth and is usually bilateral. These lesions are
spontaneously. They commonly occur on the mucosa of the lower lip. Treatment is by incision hamartomas and do not require removal except if there is impending dental obstruction.
and enucleation under local anaesthesia. Larger ones require marsupialisation. Others occur on
the tonsils where they usually appear as sessile yellow swellings. A special type of retention cyst
is the ranula.

Ranula
A ranula is a large transparent mucocele occurring in the floor of the mouth. A blue colour and
small tortuous veins stretched across the surface is typical.

It is usually unilateral and simple but may extend into the tissues of the floor of the mouth and
neck (plunging ranula). Patients may give a history of a cyst that bursts and then returns.

Treatment is usually by marsupialisation.

Fibrous (fibroepithelial) hyperplasia

Hyperplasia of the oral mucosa, a very common condition, is usually seen on the floor of the
mouth and is due to chronic irritation from ill-fitting dentures. Removal of the offending
irritation is necessary. The hyperplasia may resolve, but if it doesn’t, surgical removal of the
residual mass is necessary.
Haemangioma
These appear as a dark blue/purple sessile or modular swelling anywhere in and around the
mouth, especially on the vermilion border of the lips, floor of the mouth and tongue. They blanch
on pressure. No treatment is needed except for pressing cosmetic reasons. Copious bleeding can
occur with attempted removal.
Other soft tissue swellings
Swelling that may be encountered includes squamous papillomas (like viral warts),
fibroepithelial polyps (inner side cheek), mixed salivary tumours, vascular haematomas and giant
cell granulomas.
FIGURE 61.8 Torus palatinus in a woman aged 66 years. An incidental
finding: it was asymptomatic.
Xerostomia (dry mouth)
This is a symptom rather than a disease entity. It occurs in about 10% of the population and
approximately 70% of those have a systemic cause.12
The most common cause is a side effect of drug therapy and it is relative rather than absolute.
Some patients who have a dry mouth on clinical examination do not complain of it while others
who do complain of it may be found to have a normal salivary flow rate (can be a feature of
depressive illness).
Other obvious causes are dehydration, mouth breathing and psychogenic.
Primary xerostomia

The most common benign intraoral salivary neoplasm is the pleomorphic adenoma, usually Causes
presenting as an asymptomatic swelling of the hard palate or cheeks.2 Excision is recommended.
Salivary gland atrophy due to ageing
Page 755
Salivary gland infections
Bony exostoses
Autoimmune salivary gland disease (e.g. Sjögren syndrome)
Bony outgrowths of the maxilla and mandible are reasonably common and the hard intraoral
lump may cause concern. The most common is known as torus palatinus (see FIG 61.8 ), which DxT dry eyes + dry mouth + arthritis → Sjögren syndrome
is situated in the centre of the hard palate. A similar exostosis is torus mandibularis, which
 Topical applications of glycerin or paraffin oil to the lips.
Secondary xerostomia
Halitosis4
Causes
Causes
Mouth breathing Page 756
The diagnostic strategy model for chronic halitosis (bad breath) is presented in
Drugs: antidepressants (especially tricyclic agents), diuretics, anticholinergics, tranquillisers, CHAPTER 9 . The commonest causes are orodental disorders secondary to poor oral hygiene
antihistamines, anti-emetics, antihypertensives (some), antimigraine (some), antiparkinson, and inappropriate diet. Bacterial putrefaction of dental and food debris, together with
lithium and opioids inflammation of the gums, is largely responsible for the oral malodour. Smoking, alcohol and a
dry mouth will aggravate the problem. (A 1999 survey showed that 87% of patients with
Depression and anxiety (e.g. public speaking) halitosis had an oral cause, 8% an ear, nose and throat cause with 5% having other or
unidentified causes.)
Thirst/hunger

Dehydration (e.g. diabetes, diarrhoea, kidney failure) Red flags for halitosis
Anaemias: iron, folate, vitamin B12 deficiency
Fever
12
Consequences
Purulent nasal discharge
Xerostomia interferes with speech, mastication and swallowing and causes difficulty in
managing oral hygiene, especially dentures. Purulent sputum

Symptoms include a burning sensation, a decrease in taste or a bad taste and fetid breath. Pathological oral lesions on inspection

There is an increase in dental decay and perhaps a tendency to Candida albicans infection.
Management
Treatment
First exclude dental disease, malignancy (esp. nasopharyngeal cancer), pulmonary TB, hairy
This involves education, especially the need for meticulous oral hygiene, including topical tongue, nasal and sinus infection. Treat underlying disease.
fluoride preparations to the teeth and regular dental checks.
Refer for a dental check. Treat gingivitis.
The cause must be diagnosed and treated if possible, especially a review of (and replacement of,
if necessary) drug therapy. Consider drugs such as isosorbide dinitrate and various antidepressants as a cause.

Avoid decongestants and antihistamines. If a smoker—cease.

Strategies to consider Avoid or limit onions, garlic, peppers, curries, spicy salami and similar meats.

Suck ice or lozenges, sip sugarless fluids frequently and chew sugarless gum (avoid Avoid or limit strong cheeses.
mouthwashes containing sugars and alcohol).
Avoid excessive nips of alcohol.
Use a saliva substitute (e.g. Aquae, Saliva Orthana) or frequent mouthwashes (e.g. lemon and
Brush teeth regularly during the day—immediately after meals.
glycerin, 5–10 mL in 100 mL water as required—can be used in a plastic squeeze bottle).
Gently brush the dorsum of the tongue with special, available soft brushes.
Use sodium fluoride 0.5% mouthwash for 5 minutes each day.
 Rinse mouth out with water after meals. 2 Angel CM et al. Non-neoplastic oral swellings. Aust Fam Physician, 1992; 21: 188–9.

Avoid fasting for long periods during the day. 3 Vickers R. Oral ulcers. Medical Observer, 12 May 2000: 78–9.

Drink copious amounts of water during the day. 4 Papadakis MA, McPhee SJ. Current Medical Diagnoses and Treatment (56th edn). New
York: McGraw-Hill Education, 2017; 226–7.
Chew sugarless gum to help moisten the mouth.
5 Oral mucosal disease [published 2019]. In: Therapeutic Guidelines [digital]. Melbourne:
Gargle with mouthwash regularly (e.g. Listerine; Cepacol Mint mouthwash; 0.2% aqueous Therapeutic Guidelines Limited; 2019. www.tg.org.au, accessed November 2019.
chlorhexidine).
6 Rogers AH, Gully NJ. Melaleuca (tea tree oil) for mouth ulcers. J Dent Res, 1998; 78:
Use dental floss regularly to clean the teeth. 949.
Tip: use an oil/water wash (e.g. equal volumes of cetylpyridinium chloride (Cepacol) and olive 7 Bastiaan RJ. Periodontal disease. In: MIMS Disease Index (2nd edn). Sydney: IMS
oil), gargle a well-shaken mixture and spit out, qid. Publishing, 1996: 403–4.

8 Reade PC, Rich AM. Oral dermatoses. In: MIMS Disease Index (2nd edn). Sydney: IMS
Practice tips Publishing, 1996: 362–4.

Recurrent herpes simplex ulceration is not common in the oral mucosa and if 9 Hopcroft K, Forte V. Symptom Sorter (4th edn). Oxford: Ratcliffe Publishing, 2011; 356–
suspected should be confirmed by laboratory investigation. The treatment is 8.
different from aphthous ulceration so clinical distinction is important. Herpes
simplex virus is aggravated by topical steroids. 10 Rich AM, Reade PC. Oral cancer. In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 360–1.
For unusual mouth ulceration, consider acute leukaemia, cancer, blood
dyscrasias, Crohn disease and drug therapy such as anti-epileptics and 11 Kaplan JL, Porter R. The Merck Manual of Diagnosis and Therapy (19th edn). Whitehouse
antihypertensives. Station: Merck Research Laboratories, 2011; 492.

12 Abetz LM, Savage NW. Burning mouth syndrome and psychological disorders. Aust Dent
J, 2009; 54(2): 84–93.
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:

Aphthous ulcers

Halitosis

Hand, foot and mouth disease

Tongue soreness

References
1 Tversky J. Oral mucosal disease. In: Skin and Cancer Foundation Dermatology
Conference Proceedings. Melbourne, 2002.
 Page 757 significantly.

The common causes are viral pharyngitis (approximately 70+%) and tonsillitis due
to Streptococcus pyogenes (approximately 20%).

The sore throat may be the presentation of serious and hidden systemic diseases,
62 Sore throat such as blood dyscrasias, HIV infection and diabetes (due to candidiasis).

An important cause is tonsillitis caused by Epstein–Barr mononucleosis (EBM).

Treating this cause with penicillin can produce adverse effects.

As a general rule, antibiotics should not be prescribed to treat a sore throat,

I believe there are hundreds of young adults who have erroneously suffered tonsillectomy
excluding evidence of group A beta-haemolytic Streptococcus (GABHS) infection.4
because of the tonsillitis of undiagnosed glandular fever.

SCEPTICAL GP (ANONYMOUS)
URTIs are the most common symptomatic presentation in general practice (6% of encounters) so
a sore or painful throat is one of the most common symptoms a GP will encounter.1 The most
usual cause is viral pharyngitis, which is self-limiting and usually only requires symptomatic
treatment.
Glossary of terms
Presentation
Sore throat may be present as part of a complex of the common upper respiratory infections,
such as the common cold and influenza. However, sore throat often presents as a single
symptom. The pain is usually continuous and aggravated by swallowing. In those under 4 years
of age the presentation of acute pharyngitis or tonsillitis may be confusing as the presenting
complaints may be vomiting, abdominal pain and fever rather than sore throat and swallowing
difficulty.

Pharyngitis Inflammation of pharynx ± tonsils. It is appropriate to consider sore throat as acute or chronic. Most presentations come as acute
problems, the causes of which are listed in TABLE 62.1 .
Quinsy A peritonsillar abscess.

Tonsillitis Inflammation of tonsils only. Table 62.1 Causes of acute sore throat

Bacteria
Key facts and checkpoints Beta-haemolytic streptococci (GABHS)
Diphtheria (rare)
Gonococcal pharyngitis
In a National Morbidity Survey (UK),2 nine episodes per annum of acute pharyngitis
or acute tonsillitis were diagnosed for every 100 patients. Haemophilus influenzae
Moraxella catarrhalis
Sore throats account for about 5% of consultations in general practice per annum.3 Quinsy
Staphylococcus aureus (rare)
Although throat infections are common from infancy, children under 4 years of age
rarely complain of a sore throat. Syphilis (rare)
Acute ulcerative gingivitis (Vincent angina infection)
Complaints of a sore throat are prevalent in children between 4 and 8 years and in
teenagers. Viral
Moderate–severe soreness
Sore throats continue to be common up to the age of 45 and then decline
 Epstein–Barr mononucleosis Oropharyngeal candidiasis
Herpangina (Coxsackie A or B) Epstein–Barr mononucleosis
Herpes simplex pharyngitis
Serious disorders not to be missed
Mild–moderate soreness
Cardiovascular:
Adenovirus
angina
Cytomegalovirus
myocardial infarction
Coronavirus
Neoplasia:
Enterovirus
cancer of oropharynx, tongue
Influenza and parainfluenza virus
Blood dyscrasias (e.g. agranulocytosis, acute leukaemia)
Respiratory syncytial virus (RSV)
Severe infections:
Picornavirus
acute epiglottitis (children and adults)
Rhinovirus
peritonsillar abscess (quinsy)
Human immunodeficiency virus
pharyngeal abscess
Varicella (chicken pox)
diphtheria (very rare)
Other infections HIV/AIDS
Candida albicans, esp. in infants Vincent angina
Mycoplasma pneumoniae
Pitfalls (often missed)
Chlamydia pneumoniae
Trauma—foreign body (e.g. fish bone)
Blood dyscrasias Epstein–Barr mononucleosis
Agranulocytosis Candida:
Leukaemia common in infants
Irritants steroid inhalers
Tobacco smoke STIs:
Antiseptic lozenges (oral use) gonococcal pharyngitis
herpes simplex (type II)
syphilis
A diagnostic approach Irritants (e.g. cigarette smoke, chemicals)
Reflux oesophagitis → pharyngolaryngitis
A summary of the diagnostic strategy model is presented in TABLE 62.2 . Tonsilloliths
Cricopharyngeal spasm
Kawasaki disease
Table 62.2 Sore throat: diagnostic strategy model Angioedema (Quincke oedema)
Chronic mouth breathing
Probability diagnosis Aphthous ulceration
Viral pharyngitis Thyroiditis
Streptococcal (GABHS) tonsillitis Glossopharyngeal neuralgia
Chronic sinusitis with postnasal drip (often not ‘sore’) Rarities:
 scleroderma Primary HIV infection can present with a sore throat along with other symptoms. Adenovirus
Behçet disease pharyngitis can also mimic streptococcal pharyngitis, especially in young adults.
sarcoidosis
Traumatic episodes are important but are often not considered, especially in children. They
malignant granuloma include:
tuberculosis
a foreign body—may cause a sudden onset of throat pain, then drooling and dysphagia
Seven masquerades checklist
Depression vocal abuse—excessive singing or shouting can cause a sore throat and hoarseness Page 759

Diabetes (Candida) burns—hot food and drink, acids or alkalis

Drugs
Anaemia (possible)
Thyroid disorder (thyroiditis) Red flag pointers for sore throat
Spinal dysfunction (cervical)
Persistent high fever
Is the patient trying to tell me something?
Unlikely, but the association with depression is significant. Failed antibiotic treatment

Medication-induced agranulocytosis

Probability diagnosis Mouth drooling: consider epiglottitis (don’t examine the throat)

Stridor or other signs of respiratory distress

The majority of sore throats, mainly pharyngitis, will be caused by a virus. A viral infection is
supported by the presence of coryza prodromata, hoarseness, cough, conjuctivitis and nasal Sharp pain on swallowing (?foreign body)
stuffiness. The common viruses include coronavirus, rhinovirus, RSV, parainfluenza,
coxsackievirus, adenovirus and enterovirus. Marked swelling of quinsy

Serious disorders not to be missed Candidiasis: consider diabetes or immunosuppression

It is vital to be aware of Haemophilus influenzae infection causing the sudden development of

epiglottitis in children, especially between 2 and 4 years. These patients present with a short Various irritants, especially cigarette smoke in the household and smoke inhalation from fires,
febrile illness, respiratory difficulty (cough is not a feature) and are unable to swallow. can cause pharyngeal irritation with sore throat, especially in children.

It is important not to overlook cancer of the oropharynx or tongue, or the blood dyscrasias,
including acute leukaemia (see CHAPTER 17 ). The severe infections not to be missed include
streptococcal pharyngitis with its complications (quinsy, post-strep glomerulonephritis) and HIV
infection (including AIDS).
A foreign body may stick in the supraglottic area and may not be seen on oral Page 758
examination.
Pitfalls
There are many pitfalls, the classic being to diagnose the exudative tonsillitis of EBM as
streptococcal tonsillitis and prescribe one of the penicillins, which may precipitate a severe rash.
The mouth and pharynx may become dry and sore from mouth breathing, which is often
associated with nasal obstruction (e.g. adenoid hypertrophy, allergic rhinitis).
Tonsilloliths are concretions of debris entrapped within deep tonsillar crypts. They are a common
cause of halitosis, vague sore throat and possibly recurrent bouts of tonsillitis.
Seven masquerades checklist
Depression may be associated with a sore throat. Diabetes and aplastic anaemia and drugs are
indirectly associated through candidiasis, neutropenia and agranulocytosis respectively. NSAIDs
can cause a sore throat. The possibility of thyroiditis presenting as a sore throat should be kept in
mind.
Making a diagnosis
The issues of making a reliable diagnosis and prescribing antibiotics are rather contentious and at
times difficult. It is difficult to distinguish clinically between bacterial and viral causes. The main
issue is to determine whether the sore throat has a treatable cause by interpretation of the clinical
and epidemiological data.
associated symptoms such as metallic taste in mouth, fever, upper respiratory infection, other
pain such as ear pain, nasal stuffiness or discharge and cough.
Note whether the patient has asthma and uses a corticosteroid inhaler, is a smoker or is exposed
to environmental irritants. Check the immunisation history, enquiring especially about
diphtheria.

The appearance of the pharynx and tonsils is not always discriminating. A generalised red throat
may be caused by a streptococcal or a viral infection, as may tonsils that are swollen with
follicular exudates. On probability, most sore throats are caused by a virus and generally do not
show marked inflammatory changes or purulent-looking exudates (see FIG. 62.1 ).
The history should give a clue to the remote possibility that the painful throat is a manifestation
of angina.
Examination
An inspection should note the general appearance of the patient, looking for ‘toxicity’, the
anaemic pallor of leukaemia, the nasal stuffiness of infectious mononucleosis, the characteristic
halitosis of a streptococcal throat.

Palpate the neck for soreness and lymphadenopathy, inspect the ears and check the Page 760
sinus areas.

Then inspect the oral cavity and pharynx. Look for ulcers, abnormal masses and exudates. Note
whether the uvula and soft palate, tonsils, fauces or pharynx are swollen, red or covered in
exudate. The typical appearances of various conditions causing a sore throat are shown in
FIGURES 62.1 to 62.7 , and important causes to exclude in FIGURE 62.8 .

FIGURE 62.1 Viral pharyngitis: the signs may be minimal but mild redness of
pharynx and prominent lymphoid patches on the oropharynx are typical

The presence of rhinorrhoea, conjunctivitis or a viral rash adds weight to the viral diagnosis.
Viruses are considerably more likely to cause a dry cough and hoarse voice than bacterial causes,
so the presence of these also helps discriminate. The majority of sore throats presenting to a
general practice exhibit some of these features and should be treated symptomatically.

Reassuringly for this approach, only around 10% of sore throats in adults and 20% in children
are caused by the most common bacterial pathogen (Streptococcus pyogenes) and even though
this benefits from antibiotics, it is usually self-limiting; symptoms last approximately one day
longer if no antibiotics are given.5
FIGURE 62.2 Oral thrush due to Candida albicans in a person with diabetes.
Small patches of yellow–white exudate are seen on the palate, dorsum of the
tongue, pharynx and mucosa.

The clinical approach Photo courtesy Hugh Newton-John

History
It is necessary to determine whether the patient has a sore throat, a deep pain in the throat or neck
pain. Instruct the patient to point to exactly where the pain is experienced. Enquire about relevant
 FIGURE 62.5 Streptococcal tonsillopharyngitis: severe inflammation involves
both tonsils and pharynx with marked redness, swelling and exudate. Consider
herpes simplex and mononucleosis as alternative diagnoses.

FIGURE 62.3 Tonsillitis of Epstein–Barr mononucleosis showing swollen red

tonsils, with a whitish-yellow membranous exudate, swollen uvula and
petechiae on the soft palate
Photo courtesy Hugh Newton-John

FIGURE 62.6 Peritonsillar abscess (quinsy): a tense red bulging mass is

noted and the uvula is displaced from the mid line; a site of incision for
drainage is indicated

FIGURE 62.4 Acute follicular tonsillitis due to Streptococcus pyogenes: the

tonsils are red and swollen with pockets of pus
Photo courtesy Hugh Newton-John

FIGURE 62.7 Diphtheria: tonsils and pharynx are red and swollen; a thick
grey–green exudate forms on the tonsils as a spreading membrane
 seldom helpful because the isolation of GABHS often represents asymptomatic carriage.5 Still
others recommend throat cultures for selected patients only.6

Generally, throat cultures are not necessary except to verify the presence of S. pyogenes,
especially in closed institutions such as boarding schools, or if diphtheria is suspected in the non-
immunised. One study has found that toothbrushes harbour GABHS and should not be shared.7
A positive culture and a fourfold rise in the ASO titre are necessary for a precise diagnosis.

Epstein–Barr mononucleosis screening

It is important initially if tonsillar exudate is present to consider the possibility of EBM. If
suspected, an IgM antibody test should be ordered, rather than the older tests, such as a Paul–
FIGURE 62.8 General causes of a sore throat: note the importance of Bunnell test.
excluding cancer Supportive symptomatic treatment for sore throats and common colds
Guidelines Supportive measures can be useful for their modest benefit, and also as an alternative to the
temptation to over-prescribe antibiotics.
Small patches of exudate on the palate or other structure indicate Candida albicans (oral
thrush) (see FIG. 62.2 ). Adequate soothing fluids, including icy poles.
A large whitish-yellow membrane virtually covering both tonsils indicates EBM (see Analgesia: adults—2 soluble aspirin; children—paracetamol elixir or ibuprofen.
FIG. 62.3 ).
Commonly recommended are soothing gargles (e.g. soluble aspirin used for analgesia) and
A generalised red, swollen appearance with exudate indicates GABHS infection (see rest.
FIGS. 62.4 and 62.5 ).
OTC throat lozenges (Strepsils,8 lignocaine9) and topical benzydamine spray (Difflam10) have
Investigations weak evidence for modest, temporary pain reduction.

Investigations are usually not required, but can be selected from: For nasal congestion, the limited use (3 days) of decongestants is occasionally helpful.

throat swab Oral zinc and vitamin C have weak evidence of some small benefit for common cold
symptoms.
haemoglobin, blood film and white cell count
Oral corticosteroids have been shown to decrease the intensity and duration of pain in those
mononucleosis test with severe pain, dysphagia and drooling. Use prednisolone (adult 50 mg daily; child 1 mg/kg
daily) for 1–2 days, or a single dose of dexamethasone (adult 10 mg, child 0.6 mg/kg).5
random blood sugar (?diabetes)

biopsy of suspicious lesions Sore throat in children

To swab or not to swab An acute sore throat in a child usually means a viral or, less commonly, bacterial infection of the
tonsillopharynx. A bacterial cause is more common in children aged 3–13 years than in children
Page 761
Throat swabs are about 90% effective in isolating GABHS from the infected throat. <3 years. Other causes to consider are:
Authorities are divided about management. Some recommend that throat cultures be performed
for all sore throats and antibiotics given only when GABHS is found. Others regard throat gingivostomatitis, especially primary herpes simplex
cultures as being unnecessary and recommend therapy based on clinical judgment. Swabs are
 epiglottitis fever ≥38°C

laryngotracheobronchitis (croup) toxicity

laryngitis Tender anterior cervical lymphadenopathy Page 762

oral candidiasis (more a bad taste than pain) Tonsillar swelling and exudate

aphthous ulcers Absence of cough.

foreign bodies Other symptoms include:

postnasal drip (e.g. allergic rhinitis) difficulty in swallowing

irritation: low environmental humidity, smoke (e.g. household smoke) significant pain, including pain on talking

foul-smelling breath
Sore throat in the elderly
Examination
Sore throat in the elderly may be caused by a viral infection but otherwise needs to be treated
with considerable respect. It is important to exclude pharyngeal cancer which can present with Pharynx very inflamed and oedematous
the classic triad.
Tonsils swollen with pockets of yellow exudate on surfaces (see FIGS. 62.4 and 62.5 )
DxT painful swallowing + referred ear pain + hoarseness → pharyngeal
Very tender enlarged tonsillar lymph nodes
cancer
Treatment
Oropharyngeal lesions may occur with herpes zoster but vesicles are usually present on the face.
Indications for antibiotic therapy:5
A metallic taste in the mouth with or without a complaint of a sore throat indicates C. albicans
and hence diabetes must be excluded. severe tonsillitis with above features of GABHS

existing rheumatic heart disease at any age

Bacterial causes of sore throat
scarlet fever

Streptococcal tonsillopharyngitis peritonsillar cellulitis or abscess (quinsy)

This infection may involve the pharynx only and vary from mild to severe, or it may involve patients 2–25 years with presumptive GABHS from vulnerable communities (e.g. remote
both tonsils and pharynx. It is uncommon under 3 years or over 40 years.11 Indigenous) with a high background incidence of acute rheumatic fever

Treatment should be with penicillin or an alternative antibiotic (see TABLE 62.3 ).5
Guidelines for streptococcal throat
The four diagnostic features are the following; however, because viral infections are so common, Table 62.3 Treatment for streptococcal throat (proven or suspected)5
the presence of all four features still has a predictive value of around 50% for streptococcus.5

Constitutional symptoms: Children

 phenoxymethyl penicillin 50 mg/kg/day (o) in 2 Quinsy is a peritonsillar abscess characterised by marked swelling of the peritonsillar area with
divided doses for 10 days (to max. 1 g/day) medial displacement of tonsillar tissue (see FIG. 62.6 ). It is usually caused by GABHS or
or anaerobes, occasionally Staphylococcus aureus. A typical picture of tonsillitis with severe
if non-adherent, benzathine penicillin IM single dose according to weight unilateral throat pain and high fever is followed by increasing difficulty in swallowing and
or (if hypersensitive to penicillin) trismus.
azithromycin 12 mg/kg up to 500 mg (o) daily for 5 days
Page 763
or
cephalexin 25 mg/kg up to 1 g (o) bd for 10 days Treatment
Adults Antibiotics (e.g. procaine penicillin IM or clindamycin) plus aspiration or drainage in hospital
phenoxymethyl penicillin 500 mg (o) 12 hourly for under local anaesthetic if it is pointing. Oral penicillin treatment is likely to fail. Subsequent
10 days (can initiate treatment with one injection of procaine penicillin) tonsillectomy may, but not always, be necessary. The cover can be broadened by adding
or (if hypersensitive to penicillin) metronidazole.5
azithromycin 500 mg (o) daily for 5 days
or Acute epiglottitis
cephalexin 1 g bd for 10 days
In those with low likelihood of adherence or oral treatment not tolerated: In children this is a life-threatening infection. It may be overlooked in adults where, unlike
benzathine penicillin 900 mg IM as a single dose in adults children, the airway is usually not obstructed and the patient presents with a severe sore throat,
dysphagia, drooling of saliva and a tender neck. Examination of the throat may appear quite
In severe cases:
normal. However, it is a severe infection requiring hospitalisation and parenteral antibiotics (e.g.
procaine penicillin 1–1.5 g IM daily for 3–5 days plus phenoxymethyl penicillin (as cefotaxime).
above) for 10 days

Note: Although symptoms and most evidence will disappear within 1–2 days of treatment, a full course of 10 days should be given to provide an
Diphtheria
optimal chance of eradicating S. pyogenes from the nasopharynx and thus minimising the risk of recurrence or complications such as rheumatic
fever.5 Some studies indicate that 7 days may be sufficient. Corticosteroids can be added in adults if very severe symptoms, e.g. restricted Due to the bacterium Corynebacterium diphtheriae, the potentially fatal form of this disease
swallowing.
almost always occurs in non-immunised people. The clinical presentation may be modified by
previous immunisation or by antibiotic treatment.
Antibiotic treatment has a variable effect on the resolution of symptoms. It does not protect
Clinical features
against glomerulonephritis but does protect against rheumatic fever.11 Amoxicillin should be
avoided in tonsillitis because of confusion caused should mononucleosis be present. Frequent Insidious onset
fluids are advisable and paracetamol for pain. Corticosteroids may be added if symptoms very
severe, e.g. restricted swallowing, drooling. Mild to moderate fever

Recurrent tonsillitis5,11 Mild sore throat and dysphagia

Recurrent sore throat is common in childhood and usually has a viral cause. Recurrent tonsillitis Patient looks pale and ill
tends to be overdiagnosed. A throat swab taken during an acute episode can be helpful.12 Only Enlarged tonsils
patients with more than five episodes of presumptive or proven bacterial tonsillitis in a year
should be treated with prophylactic penicillin. The decision should be based on the severity of Pharynx inflamed and oedematous
the episode, time lost from work or school, infectivity and response to antibiotics. Tonsillectomy
in children results in only a modest reduction in the number of subsequent sore throats.13 Pseudomembrane (any colour but usually grey–green) can spread beyond tonsils to fauces,
soft palate, lateral pharyngeal wall and downwards to involve larynx (see FIG. 62.7 )
Quinsy
Enlarged cervical lymph nodes
 Soft tissue swelling of neck → ‘bull neck’ appearance Primary rash (5%)

Management Secondary rash:

Throat swabs with ampicillin, amoxicillin (90–100%)

Antitoxin with penicillin (50%)

Penicillin or erythromycin 500 mg qid for 10 days Note: This rash is not synonymous with penicillin hypersensitivity.

Isolate patient Diagnosis

Blood film—atypical lymphocytes
Viral causes of sore throat
White cell count—absolute lymphocytosis
Epstein–Barr mononucleosis Heterophil antibodies
The angiose form of EBM is a real trap and must be considered in those aged 15–25 years (peak or
incidence) with a painful throat that takes about 7 days to reach its peak. Refer to CHAPTER 18 .
Monospot test (Paul–Bunnell)
Clinical features
or
Sore throat
EBV IgM test (more specific)
Prodromal fever, malaise, lethargy
Treatment5
Anorexia, myalgia
Symptomatic, e.g. paracetamol for pain. Parenteral corticosteroids only in the most severe cases.
Nasal quality to voice
Page 764
Skin rash
Herpangina
Examination
An uncommon infection caused by the Coxsackie virus. Presents as small vesicles on soft palate,
Petechiae on palate (not pathognomonic) uvula and anterior fauces. These ulcerate to form small ulcers. The problem is benign and rapidly
self-limiting.
Enlarged tonsils with or without white exudates (looks, but isn’t, purulent)
Herpes simplex pharyngitis
Peri-orbital oedema
In adults primary infection is similar to severe streptococcal pharyngitis but ulcers extend
Lymphadenopathy, especially posterior cervical
beyond the tonsils.
Splenomegaly (50%)
Other viral pharyngitis
Jaundice ± hepatomegaly (5–10%)
Typically, the signs are fewer than with other causes. The typical case has mild redness without
The rash exudate and prominent (sometimes pale) lymphoid patches on the posterior pharynx (see
FIG. 62.1 ). Tonsillar lymph nodes are usually not enlarged or tender. This picture is the
commonest encountered in general practice. Suspicion or evidence of HIV infection or diphtheria

Patients not responding to treatment

Candida pharyngitis
Patients with more generalised disorders that are not yet diagnosed12
Oral candidiasis typically presents as milky-white growths on the palate, buccal and gingival
mucosae, pharynx and dorsum of the tongue (see FIG. 62.2 ). If scraped away, a bleeding
ulcerated surface remains. A bad (metallic) taste is a feature but the patient may complain of a
Guidelines for tonsillectomy13
sore throat and tongue and dysphagia.
Repeated attacks of acute tonsillitis
Causes or predisposing factors to consider:
Enlarged tonsils and/or adenoids causing airway obstruction, including OSA
HIV infection
Chronic tonsillitis
diabetes mellitus
More than one attack of peritonsillar abscess
broad-spectrum antibiotics
Biopsy excision for suspected new growth
corticosteroids, including inhalers
Antibiotic treatment is aimed primarily at streptococcal pharyngitis and this is often based on
dentures clinical judgment.

debility
Practice tips
Management
Consider severe tonsillitis with a covering membrane as EBM.
Determine underlying cause.
If an adult presents with an intensely painful throat with a heavy exudate and that
nystatin suspension 1 mL (100 000 units/mL), rinse and swallow qid seems toxic, consider primary herpes simplex as well as streptococcal throat.

or Reserve swabs of the throat for verification of a streptococcal throat where it is

important to do so, for suspected diphtheria and for suspicion of other serious
amphotericin 10 mg lozenge dissolved slowly in oral cavity, 6 hourly, for 7–14 days infections such as tuberculosis.
or Be aware of possible complications, such as febrile convulsions in children and
abscess formation.
miconazole oral gel qid
Do not misdiagnose unusual causes of a sore throat, such as cancer (see
When to refer FIG. 62.8 ).

The triad in an adult: hoarseness, pain on swallowing and referred ear pain =
Acute epiglottitis in children (a medical emergency) possible pharyngeal cancer.
Inaccessible foreign body In managing the acute sore throat, consider whether the benefits of antibiotic use
outweigh the disadvantages.
Abscess: peritonsillar or retropharyngeal

Recurrent attacks of tonsillitis and adenoid hypertrophy for an opinion about tonsillectomy
and/or adenoidectomy Page 765
 13 Burton MJ, Glasziou PP. Tonsillectomy or adeno-tonsillectomy versus non-surgical
Patient education resource treatment for chronic/recurrent acute tonsillitis. Cochrane Database Syst Rev, 2009; Issue
1: Art No. CD001802.
Hand-out sheet from Murtagh’s Patient Education 8th edition:

Tonsillitis

References
1 Cooke G, Valenti L, Glasziou P, Britt H. Common general practice presentations and
publication frequency. Aust Fam Physician, 2013 (Jan/Feb); 42(1): 65–8.

2 Office of Population Censuses and Surveys. Morbidity Statistics from General Practice
Studies on Medical and Population Subjects. No 26. London: HMSO, 1974: 33–40.

3 Cormack J, Marinker M, Morrell D. A Handbook of Primary Medical Care. London:

Kluwer-Harrap, 1980: 3(25): 1–7.

4 Del Mar CB, Glasziou PO, Spinks AB. Antibiotics for Sore Throat (Cochrane review). In:
The Cochrane Library, Issue 1. Oxford: Update Software, 2002.

5 Antibiotic [updated 2019]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic

Guidelines Limited; 2019. www.tg.org.au, accessed February 2021.

6 Yung AP et al. Infectious Diseases: A Clinical Approach. Melbourne: A Yung, 2001: 66–
74.

7 Brook I, Gober AE. Persistence of group A β-hemolytic streptococci in toothbrushes and

removable orthodontic appliances following treatment of pharyngotonsillitis. Arch
Otolaryngol Head Neck Surg, 1998; 124: 993–5.

8 Weckmann G et al. Efficacy of AMC/DBCA lozenges for sore throat: a systemic review
and meta-analysis [4 Sept 2017]. Int J Clin Prac, October 2017; 71(10): e13002.

9 Wonnemann M et al. Lidocaine 8 mg sore throat lozenges in the treatment of acute

pharyngitis. A new therapeutic option investigated in comparison to placebo treatment.
Arzneimittelforschung, 2007; 57(11): 689–97.

10 Cingi C et al. Effects of chlorhexidine/benzydamine mouth spray on pain and quality of

life in acute viral pharygitis: a prospective, randomized, double-blind, placebo-controlled,
multicenter study. Ear Nose Throat J, 2010, Nov; 89(11): 546–9.

11 Cooper RJ et al. Principles of appropriate antibiotic use for acute pharyngitis in adults.
Ann Intern Med, 2001; 134: 509–17.

12 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines

Handbook Pty Ltd. 2018: 427–8.
 Page 766
63 Tiredness/fatigue
Chronic fatigue syndrome is not tiredness: there is a difference between feeling tired and
‘fatiguey’. Fatigue involves a heaviness in the limbs, a sense of inability to think or move, pain in
muscles and joints, nausea etc. Please understand the difference.
PERSON WITH CFS TO AUTHOR , JANUARY 1995
Tiredness, which basically means ‘a desire to rest’, or fatigue, which is derived from the latin
‘fatigare’—to tire, is not a diagnosis but rather a symptom of illness: it may occur as either a
presenting or a supporting symptom. Tiredness is interchangeable with terms such as weariness,
lethargy, loss of energy, listlessness and exhaustion. It is a common and difficult presenting
symptom often known by the acronym TATT—‘tired all the time’. The symptom of tiredness is
likely to be ‘hidden’ behind the request for a tonic or a physical check-up.1
Tiredness can be a symptom of a great variety of serious and uncommon diseases, including
malignant disease. The challenge for the family doctor is to diagnose such disorders quickly
without extravagant investigation.
Key facts and checkpoints
The commonest cause of tiredness is psychological distress, including anxiety
states, depression and somatisation disorder. It peaks in ages 20–40.
An Australian study showed that fatigue presents at a rate of 1.4 per 100 GP
encounters.2
A survey in four NSW general practices by Hickie et al.3 showed that 25% of adult
attendees reported prolonged fatigue. Of these, 70% had psychological distress.
In Jerrett’s study,4 no organic cause was found in 62.3% of patients presenting with
lethargy; the constant factors were sleep disturbance and the presence of stress in
their lives. Many of them turned out to be suffering from psychological problems or
psychiatric illnesses, including depression, anxiety state or bereavement.
An important cause of daytime tiredness is a sleep disorder such as obstructive
sleep apnoea, which results in periodic hypoventilation during sleep. It occurs in 2%
of the general population in all age groups and in about 10% of middle-aged men.4
Obesity and a history of snoring are pointers to the problem. See CHAPTER 60 .
Underlying disorders that need to be considered as possible causes of prolonged
fatigue are endocrine and metabolic disorders, malignancy, chronic infection,
autoimmune disorders, primary psychiatric disorders, neuromuscular disorders,
anaemia, drugs and cardiovascular disorders.
Prolonged or chronic tiredness is characterised clinically by disabling tiredness,
typically lasting more than 2 weeks, associated with non-restorative sleep,
headaches and a range of other musculoskeletal and neuropsychiatric symptoms.3
Sociodemographic correlates are concurrent psychological distress, female sex,
lower socioeconomic status and fewer total years of education.3
Chronic fatigue syndrome (CFS) is defined as debilitating fatigue, persisting or
relapsing over 6 months, associated with a significant reduction in activity levels of
at least 50%, and for which no other cause can be found.
Causes of tiredness
Analysing the symptom and reaching a diagnosis demands considerable skill, since tiredness
may indicate the first subtle manifestation of a serious physical disease or, more commonly, may
represent a person’s difficulty dealing with the problems of their everyday life. Chronic tiredness
or fatigue is a feature of the ‘high pressure’ nature of many people’s lifestyles.
Careful consideration must be given to the differentiation of physiological tiredness, as a result
of excessive physical activity, from psychological tiredness. Furthermore, before diagnosing
tiredness as psychological, pathological as well as physical causes must be excluded.
A summary of causes of chronic tiredness is presented in TABLE 63.1 .
Page 767
Table 63.1 Causes of chronic tiredness/fatigue
Psychogenic/non-organic
Psychiatric disorders:
anxiety states
depression/dysthymia
other primary disorders
bereavement
 somatisation disorder
Table 63.2 Tiredness/chronic fatigue: diagnostic
Lifestyle factors:
strategy model
workaholic tendencies and ‘burnout’
lack of exercise/sedentary lifestyle
mental stress and emotional demands Probability diagnosis
exposure to irritants (e.g. carbon monoxide, ‘lead’ fumes) Stress and anxiety
inappropriate diet Depression
obesity Inappropriate lifestyle and psychosocial factors
sleep deprivation Viral/postviral infection
Sleep-related disorders (e.g. sleep apnoea)
Organic
Congestive cardiac failure Serious disorders not to be missed
Anaemia Vascular:
Malignancy cardiac arrhythmias
HIV/AIDS cardiomyopathy
Subacute to chronic infection (e.g. hepatitis, malaria) incipient CCF
Endocrine: various, especially thyroid (hyper and hypo), Addison disease and Infection:
diabetes mellitus hidden abscess
Nutritional deficiency HIV/AIDS
Kidney failure hepatitis B and C
Liver disorders: chronic liver failure, chronic active hepatitis others
Respiratory conditions (e.g. asthma, COPD) Cancer, any malignancy
Neuromuscular (e.g. MS, myasthenia gravis, Parkinson disease) Other:
Metabolic (e.g. hypokalaemia, hypomagnesaemia anaemia
Drug toxicity, addiction or side effects (see TABLE 63.3 ) haemochromatosis
Autoimmune disorders
Sleep-related disorders Pitfalls (often missed)
Postinfectious fatigue syndrome (e.g. influenza, mononucleosis, COVID-19) ‘Masked’ depression
Coeliac disease
Unknown
Chronic infection (e.g. Lyme disease)
Fibromyalgia
Incipient CCF
Chronic fatigue syndrome
Fibromyalgia
Somatisation disorder
Lack of fitness
Irritable bowel syndrome
Drugs: alcohol, prescribed, withdrawal
Menopause syndrome
Pregnancy
A diagnostic approach Neurological disorders:
post head injury
A summary of the diagnostic strategy model is presented in TABLE 63.2 . CVA
 Parkinson disease Serious disorders not to be missed
Kidney failure
Metabolic (e.g. hypokalaemia, hypomagnesaemia) Many serious disorders such as anaemia, malignant disease and subacute or chronic infections
Chemical exposure (e.g. occupational) (e.g. hepatitis, bacterial endocarditis and tuberculosis) can be ‘hidden’ or masked in the initial
stages or not readily apparent. Neuromuscular diseases such as myasthenia gravis and multiple
Rarities:
sclerosis, connective tissue disorders and HIV infection also have to be considered.
hyperparathyroidism
Addison disease (see CHAPTER 14 ) Pitfalls
Cushing syndrome
narcolepsy The symptom of tiredness is fraught with pitfalls. Common ones include depression and other
multiple sclerosis psychoneurotic disorders, and incipient congestive cardiac failure. Drug intake is a very common
pitfall, whether it be by self-administration (including alcohol) or iatrogenic.
autoimmune disorders
Seven masquerades checklist Tiredness is a feature of pregnancy in many women, so this association is worth keeping in mind,
especially in the early stages when a change in menstrual history is not given or a young single
Depression woman will attempt to conceal the fact. It is also a presenting symptom of the menopause
Diabetes syndrome, which should not be misdiagnosed. Two classic causes of tiredness are
Drugs haemochromatosis and coeliac disease.
Anaemia Despite the impressive list of possibilities, GPs should also avoid the pitfall of ‘investigating for
Thyroid disease (other endocrine) everything’ in the mistaken belief that a diagnosis can only be ruled out by throwing every
Spinal dysfunction known test or referral at it.
UTI
Is the patient trying to tell me something?
Seven masquerades checklist
Highly likely. All these important problems are capable of being responsible for tiredness, especially
depression, diabetes, drugs, anaemia and urinary infection. Thyroid disorder could certainly be
responsible. Drugs that commonly cause tiredness are listed in TABLE 63.3 .

Probability diagnosis
Table 63.3 Drugs that can cause tiredness
The most probable diagnoses to consider are:

tension, stress and anxiety Alcohol

Analgesics
depression
Antibiotics
inappropriate lifestyle and psychosocial factors Anticonvulsants
Antipsychotics
viral or postviral infection Page 768
Antidepressants
sleep-related disorders Anti-emetics
Antihistamines
Research studies have reported that over 50% (and in some cases as many as 80%) of reported Antihypertensives, e.g. beta blockers
cases of fatigue have been of psychological causation.3 Overwork is a common cause of fatigue
Anxiolytics
and is often obvious to everyone but the patient. The modern approach to sleep-related disorders
has revealed several important factors causing excessive tiredness. Corticosteroids
 Digoxin It is mandatory that questions be asked about the following if the information is not volunteered
Ergot alkaloids by the patient:
Hormones (e.g. oral contraceptives)
sleep pattern (it is not uncommon for patients to say they sleep well and yet on Page 769
Hypnotics questioning it is found they have initial insomnia, or middle insomnia, or both, with
Nicotine or without early morning waking). It is most relevant to talk to any sleeping partners to obtain
NSAIDs a history of sleep disturbance
Vitamins A and D (early toxic symptoms) weight fluctuations

Note: Most drugs have a considerable capacity to cause tiredness. energy—performance—ability to cope

sexual activity/sexual problems

Drug withdrawal, especially for illicit drugs such as amphetamines, marijuana, cocaine and
heroin, has to be considered. suicidal ideas

self-medication—OTC preparations (e.g. bromides, stimulants, analgesics, alcohol, cigarettes,

Psychogenic considerations other drugs); this is particularly important in the drug addiction-prone group: doctors,
chemists, nurses, workers in the liquor industry, truck drivers
Tiredness is a symptom that may represent a ‘ticket of entry’: a plea for help in a stressed,
anxious or depressed patient. Any of the primary psychiatric disorders can present as tiredness. fears (including phobic symptoms, hypochondriasis)

precipitating factors (present in over 50% of patients with depressive illness):

Red flag pointers (with examples) for tiredness
postpartum
Unexplained weight loss (malignancy, HIV, diabetes, hyperthyroidism)
postoperative
Recent onset in well elderly person (malignancy, anaemia, arrhythmia, diabetes,
associated with chronic physical illness
renal failure)
bereavement
Persistent fever or lymphadenopathy (HIV, hidden abscess, previous infection)
pain—chronic pain conditions
Dyspnoea (cardiac failure, arrhythmia, anaemia, COPD)
retirement
Recent onset and progressive (autoimmune disease, malignancy, coeliac disease,
MS, haemochromatosis, Parkinson disease) medication
Symptoms of depression post trauma (e.g. motor vehicle accident)
Drug and alcohol abuse postviral infections, especially hepatitis, mononucleosis, influenza, COVID-19

work history—determine whether the person is a workaholic; ask about bullying at work
The clinical approach—key history dietary history—determine pattern, including fad diets or skipped meals

Careful history taking, often followed up at a second appointment, is the key to diagnosing and psychological history—stress, anxieties, phobias, depression
managing tiredness. Perfunctory history-taking risks both missing an important cause, and over-
investigating using a scattergun approach that leads down ‘blind alleys’. menstrual history and symptoms related to the menopause syndrome
 final questions: ‘Is there anything else you feel you should tell me?’ ‘Do you have any Calcium, magnesium
explanation for your tiredness?’
ESR/CRP (evidence varies as to the usefulness of these)
self-question: ‘Is this patient depressed?’
Gluten sensitivity screening blood tests
Physical examination—key features Faecal occult blood
General inspection noting facial features, skin appearance and colour, hyperpigmentation, CXR
conjunctivae
Consider others according to clinical features, e.g. chronic infection and HIV screening,
Vital signs autoimmune disorders, cancer markers and sleep disorder studies.
Anthropometric measurements The diagnosis of CFS can be made only when the minimum investigations have been shown to
be normal or to demonstrate minor abnormalities in liver function or blood film (atypical
Basic respiratory and cardiovascular lymphocytes).
Abdominal examination with focus on masses and inguinal lymphadenopathy
Tiredness in children
Urinalysis
Tiredness in children is caused by a range of predictable conditions, such as physiological factors
Key investigations (screening) guidelines5 (excessive exercise, lack of sleep, poor diet), infections, allergies including asthma, drugs,
depression and various illnesses in general.
Only 4% of people reporting unexplained fatigue to their GP have a significant abnormal
pathology result.5 A ‘comprehensive’ investigative work-up for every person who presents with Overweight children are likely to fatigue more rapidly than children of normal weight.6 Page 770
unexplained tiredness will result in numerous positive test results, most of which are false Any bacterial, viral or other infection may be associated with tiredness. Chronic EBV
positives. This can lead to wasted time, effort, expense and possibly harmful invasive infection causing recurrent episodes of fever, pharyngitis, malaise and adenopathy is a significant
investigations, and can distract from commencing a reasonable management plan. cause in adolescents, who present with chronic exhaustion that can be mistaken for malignancy.6
Tonsillar–adenoidal hypertrophy may be large enough to compromise air exchange, particularly
Most non-urgent presentations benefit from a few simple initial tests and one or more further during sleep. Snoring may be a feature plus tiredness and lethargy in the waking state.
consultations over time; further tests can be ordered if any category of diagnoses becomes more
likely. Tiredness is a presenting feature of depression in adolescents, a serious problem that often goes
unrecognised.
Initial tests could include:

Office tests: finger-prick glucose, urine dipstick Tiredness in the elderly

FBE Elderly people tend to tire more quickly and recover more slowly and incompletely than younger
ones. Sleep in older people is generally shorter in duration and of lesser depth, and they feel less
Serum electrolytes, creatinine
refreshed and sometimes irritable on awakening.
Liver function tests
Fatigue may be present as a result of emotional frustration. Whenever the prospect of
Ferritin gratification is small, a person tends to tire quickly and to remain so until something stimulating
appears. Since the prospects for gratifying experience wane with the years, easy ‘fatigueability’
TSH or tiredness is common in this age group.

Further tests, if indicated (not a comprehensive list): However, the onset of marked tiredness in an older person who was previously well raises the
possibility of a number of underlying pathologies.
See Red flag pointers . It is similar to stress-related depression but mood lowering is temporary and work-specific.
Bereavement
Although a bereavement reaction is common and a normal human response that occurs at all
ages, it is more frequently encountered in the elderly, with the loss of a spouse or a child (young
or middle-aged). Fatigue that occurs during the initial mourning period is striking and might
represent a protective mechanism against intense emotional stress. With time, usually around 6
to 12 months, a compensated stage is reached, fatigue gradually abates and the patient resumes
normal activities as the conflicts of grief are gradually resolved. Freud pointed out the
complexities of mourning as the bereaved person slowly adjusts to the loss of the loved one. In
others, various symptoms persist as an ‘abnormal grief reaction’, including persistence of
fatigue. Some factors that may lead to this include:
unexpected death
high dependence upon the dead person
guilt feelings, especially in a love/hate relationship
Studies in general practice have shown that widows see their family doctors for psychiatric
symptoms at three times the usual rate in the first 6 months after bereavement. The consultation
rate for non-psychiatric symptoms also increases, by almost 50%.
Role of the family doctor
Following bereavement, it is important to watch for evidence of depression, drug dependency
(especially alcohol) and suicidal tendencies. In cases of expected death, management should, if
possible, start before the bereavement. Supportive care and ongoing counselling are very
important.
General related disorders
Burnout
Definition
Burnout is a clinical syndrome recently officially recognised in the World Health Organization’s
ICD-11 classification.7 It has three dimensions:
exhaustion
feelings of negativity, and cynicism towards one’s job
reduced professional efficacy
Burnout is a prolonged response to chronic occupational stressors.
When a person describes themselves as feeling ‘burnt out’, this may reflect a whole constellation
of psychogenic symptoms, such as exhaustion, boredom and cynicism, paranoia, detachment,
heightened irritability and impatience, depression and psychosomatic complaints, such as
headache and tiredness. It is important to clarify the nature of the problem with care.
At work, are they overextended, disengaged and ineffective? Or do they have an underlying
psychoneurotic disorder such as hypomania, anxiety state or depression, or a personality
disorder?
Occupations particularly prone to burnout are doctors and other health professionals, musicians,
authors, teachers, athletes, engineers, emergency service workers, soldiers, reporters and high-
technology professionals.
Management involves appropriate counselling including mindfulness and a holistic approach,
which aims to help the person to identify work and life stressors, set realistic personal goals and
develop good support mechanisms. There may be a place for helping advocate for workplace
changes, or supporting the realisation that the current job is not for them.
Chronic fatigue syndrome
This complex syndrome, which causes profound and persistent tiredness, is also Page 771
referred to as myalgic encephalomyelitis, chronic neuromuscular viral syndrome,8 postviral
syndrome, chronic EBV syndrome, viral fatigue state, epidemic neuromyasthenia, neurasthenia,
Icelandic disease, Royal Free disease and Tapanui disease. CFS is not to be confused with the
tiredness and depression that follow a viral infection such as infectious mononucleosis, hepatitis
or influenza. These postviral tiredness states are certainly common but resolve within 6 months
or so.
Typical features of CFS (see FIG. 63.1 ):8
extreme exhaustion (with minimal physical effort)
headache or a vague ‘fuzzy’ feeling in the head
aching in the muscles and legs
poor concentration and memory
hypersomnia or other sleep disturbance
waking feeling tired
emotional lability/anxiety
depressive-type illness, mood swings
 arthralgia (without joint swelling) Diagnostic criteria for CFS have been published11 (see TABLE 63.4 ), which emphasise the
positive clinical features of the syndrome and the chronicity of symptoms (greater than 6
sore throat months), in addition to the need for careful exclusion of alternative diagnoses by history,
physical examination and laboratory investigation.
subjective feeling of fever (with a normal temperature)

shortness of breath Table 63.4 Criteria for the diagnosis of chronic fatigue syndrome11
tender, swollen lymph nodes

usually occurs between 20 and 40 years of age Fatigue

Clinically evaluated, unexplained, persistent or relapsing fatigue persistent for 6
months or more, that:
is of new or definite onset
is not the result of ongoing exertion
is not substantially alleviated by rest
results in substantial reduction in previous levels of occupational, educational,
social or personal activities
and
Other symptoms
Four or more of the following symptoms that are concurrent, persistent for 6 months
or more and which did not predate the fatigue:
impaired short-term memory or concentration
sore throat
tender cervical or axillary lymph nodes
FIGURE 63.1 Chronic fatigue syndrome: characteristic symptoms muscle pain
multi-joint pain without arthritis
Epidemiologically it has been related to Coxsackie B virus infections. The responsible organism
headaches of a new type, pattern or severity
is referred to as a slow virus infection by some authorities.9
unrefreshing sleep
In approximately two-thirds of people the illness follows a clearly defined viral illness. However, post-exertional malaise lasting more than 24 hours
no single virus has been consistently associated with the development of the syndrome, which is
known to develop following a wide range of viral and non-viral infective illnesses. Immune
system dysfunction with chronic overproduction of cytokines (e.g. interferon) is a possible
pathogenetic mechanism. Examination and investigation

Every family doctor probably has patients with this disorder and the syndrome has been observed
in isolated endemics from time to time. Hickie et al.3 found that only 0.3% of those with
prolonged fatigue had a diagnosis of CFS according to their family doctor. Veterans of the Gulf
War show a 10-fold incidence of CFS compared with non-deployed military personnel.10
There is no doubt that the syndrome is real in these patients. One of the major problems
confronting clinicians is that there is no diagnostic test for this illness, so it remains a clinical
diagnosis backed up by normal baseline investigations.
Apart from mild pharyngeal infection, cervical lymphadenopathy or localised muscle tenderness,
the physical examination is normal.
Investigations should be directed towards excluding possible diagnoses for that patient, Page 772
such as chronic infection, autoimmune disorders, endocrine and metabolic disorders,
primary neuromuscular disorders, malignancy and primary psychiatric disorders. The last
mentioned is the most difficult of the differential diagnoses and psychiatric referral will often
need to be considered.
Management
Patients who have CFS are really suffering and unhappy people, similar to those with
fibromyalgia (see CHAPTER 27 ). They require considerable understanding and support.
Multidisciplinary intervention is recommended. Symptoms last approximately 2½ years.
Management strategies include:8
CFS recognition—explain that the illness is real but the cause unknown and tests are likely to
be normal
explanation and reassurance that the illness is usually self-limiting with no permanent
complications; and that a slow, steady improvement can be anticipated, with most CFS
patients returning to normal health
provide continued psychological support
review for diagnostic reappraisal (examine at least every 4 months)
avoid telling patients they are depressed
treat symptomatically—pain relief, consider NSAIDs and antidepressants if significant
depression
refer to counselling and support groups
provide a realistic, regular, graduated exercise program, which shows improvement in
functional work capacity12
promotion of sleep hygiene and an optimal healthy diet
reduce relevant stress factors (map a realistic living program)
psychiatric referral if appropriate
ask the patient to keep a diary of exercise/stress and symptom severity, in particular
avoid long-distance travel, which is poorly tolerated
Cognitive behaviour therapy appears to help some people, as do relaxation therapy, meditation,
stress management and psychotherapy, where indicated.
The emphasis should be placed on caring, rather than curing, until a specific evidence-based
intervention is found.
A systematic review has found that cognitive behaviour therapy administered by skilled
therapists and exercise are beneficial. Although few patients are cured with CBT, the therapeutic
effect is substantial.13 There is insufficient data or evidence to support the use of antidepressants,
corticosteroids, complementary therapies and dietary supplements, including vitamins B12 and C
and co-enzyme Q10.5 Prolonged rest and immunotherapy is unlikely to be beneficial.14
Fibromyalgia
The fibromyalgia syndrome (see CHAPTER 27 ) bears a clinical resemblance to CFS.
Musculoskeletal pain is more prominent although tiredness (fatigue) and sleep disturbance are
features. According to Schwenk,15 fibromyalgia affects 5% of the American population (as for so
many disease prevalence studies, treat this figure with caution) with a peak age of 35 years
(range 20–60) and a female:male ratio of 10:1. The management is similar to CFS but the
prognosis is less optimistic.
Practice tips
Always consider underlying psychological distress, especially a depressive
disorder.
Do not overlook a sleep disorder.
Believe the person’s symptoms.
Ask the person what they believe may be the cause of the tiredness.
Be careful of labelling a person as having CFS.
Restrict investigations to those that are more likely to be relevant, therapeutic and
reassuring.
A practical approach to the tired patient is to take a comprehensive history and
examination, consider a period of watchful waiting in the absence of red flags and
the judicious use of investigations once that decision is adopted.
Patient education resource
Hand-out sheet from Murtagh’s Patient Education 8th edition:
Chronic fatigue syndrome
References
1 Marinker M, Watter CAH. The patient complaining of tiredness. In: Cormack J, Marinker
M, Morrell D, eds. Practice. London: Kluwer Medical, 1982: Section 3.1.
2 Britt H et al. General practice activity in Australia 2011–12. General Practice Series no. Page 774
31. Sydney: Sydney University Press, 2012.

3 Hickie IB et al. Sociodemographic and psychiatric correlates of fatigue in selected primary

care settings. Med J Aust, 1996; 164: 585–8.

4 Jerrett WA. Lethargy in general practice. Practitioner, 1981; 225: 731–7. 64 The unconscious patient
5 Fatigue: diagnostic process. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Guidelines Limited. www.tg.org.au, accessed March 2021.

6 Tennessen WW. Signs and Symptoms in Paediatrics. Philadelphia: Lippincott, Page 773
1988: 37–40.
7 Kirsh D. Burnout is now an official medical condition. 28 May 2019. Daily life blog. The
American Institute of Stress. Availlable from: https://www.stress.org/burnout-is-now-an-
official-medical-condition, accessed March 2021.
8 Loblay R, Stewart G (Convenors). Chronic fatigue syndrome: clinical practice guidelines
2002. RACGP/Med J Aust, 2002; 176 (Suppl.).
9 Gaebel W et al. Mental and behavioural disorders in the ICD-11: concepts, methodologies
and current status. Psychiatr Pol, 2017; 51(2): 169–95.
10 West CP et al. Intervention to prevent and reduce physician burnout: a systematic review
and meta-analysis. Lancet, 2016; 388(10057): 2272–81.
11 Fukuda K et al. The chronic fatigue syndrome: a comprehensive approach to its definition
and study. International Chronic Fatigue Syndrome Study Group. Ann Intern Med, 1994;
121: 953–9.
12 Larun L et al. Exercise therapy for chronic fatigue syndrome. Cochrane Database Syst
Rev, 2015 (10 Feb); 2: CD003200.
In whatever disease sleep is laborious, it is a deadly symptom; but if sleep does good, it is not
deadly.
HIPPOCRATES
The state of arousal is determined by the function of the central reticular formation, which
extends from the brain stem to the thalamus. Coma occurs when this centre is damaged by a
metabolic abnormality or by an invasive lesion that compresses this centre. Coma is also caused
by damage to the cerebral cortex.1
The word ‘coma’ is derived from the Greek koma, which means deep sleep. However, the deeply
unconscious patient is not in a deep sleep. Coma, which is commonly defined as unrousable or
unresponsive, is best defined as ‘lack of self-awareness’.2
The various levels of consciousness are summarised in TABLE 64.1 ; the levels vary from
consciousness, which means awareness of oneself and the surroundings in a state of
wakefulness,3 to coma, which is a state of unrousable unresponsiveness. Rather than using these
broad terms in clinical practice it is preferable to describe the actual state of the patient in a
sentence.

13 Papadakis MA, McPhee SJ. Current Medical Diagnoses and Treatment (56th edn). New Table 64.1 The five conscious levels
York: McGraw-Hill Education, 2017: 37–9.
Simplified
14 Barton S. Chronic fatigue syndrome. In: Clinical Evidence. London: BMJ Publishing State Clinical features
classification
Group, 2001: 729–33.
1 Consciousness Aware and wakeful Awake
15 Schwenk TL. Fibromyalgia and chronic fatigue syndrome: solving diagnostic and 2 Clouded consciousness Reduced awareness Confused
therapeutic dilemmas. Modern Medicine (US), 1992; 60: 50–60. and wakefulness
‘Alcohol effect’
Confusion
Drowsiness
3 Stupor Unconscious Responds to
shake and
 Deep-sleep-like state shout Orthostatic intolerance and syncope
Arousal with vigorous Drop attacks
stimuli Cardiac arrhythmias (e.g. Stokes–Adams attacks)
4 Semicomatose Unconscious Responds to Vertebrobasilar insufficiency
(deeper) pain Psychogenic disorders, including hyperventilation
Responds only to Breath-holding (children)
painful stimuli Silent myocardial infarction
(sternal rubbing with Hypoxia
knuckles) without
arousing Coma
(COMA provides a useful mnemonic for four major groups1 of causes of
unconsciousness)
5 Coma Deeply unconscious Unresponsive C = CO2 narcosis: respiratory failure; hypoxia
Unrousable and coma
O = Overdose of drugs:
unresponsive
alcohol
opioids
Key facts and checkpoints tranquillisers and antidepressants
carbon monoxide
Always consider hypoglycaemia or opioid overdose in any unconscious person, analgesics
especially of unknown background. others

If a person is unconscious and cyanosed, consider upper airway obstruction until M = Metabolic:
proved otherwise.
diabetes:
The commonest causes of unconsciousness encountered in general practice are
reflex syncope, especially postural hypotension, concussion and cerebrovascular hypoglycaemia
accidents (CVAs). The main causes are presented in TABLE 64.2 . Brain pathology ketoacidosis
can be considered as supratentorial or infratentorial. hypothyroidism
hypopituitarism
Do not allow the person who accompanies the unconscious patient to leave until all
relevant details have been obtained. hepatic failure
Addison disease
Record the degree of coma as a baseline to determine improvement or kidney failure (uraemia)
deterioration.
others

A = Apoplexy:
Table 64.2 Main causes of loss of consciousness intracerebral haemorrhage
haematoma: subdural or extradural
Episodic causes—blackouts head injury
Epilepsy cerebral tumour
 cerebral abscess Is drug overdose possible? Have they:

Infratentorial (posterior fossa): suffered recent stress or personal ‘mishaps’

pressure from above suffered recent depression or self-harm

cerebellar tumour been prescribed any centrally acting medications?
brain-stem infarct/haemorrhage
Wernicke encephalopathy Is opioid usage possible?

Are the presenting circumstances unusual?

Meningismus (neck stiffness):
Is epilepsy possible?
subarachnoid haemorrhage
meningitis Did the person pass urine or faeces?

Other: Was twitching in the limbs observed?

Has the tongue been bitten?

encephalitis
overwhelming infection, e.g. septicaemia Is head injury possible? Have they:

Trauma had complaints of headache

any recent accident?

Has a stroke or subarachnoid haemorrhage occurred? Has the patient:

Urgent attention
had a history of hypertension
The initial contact with the unconscious patient is invariably sudden and dramatic and demands
immediate action, which should take only seconds to minutes. The primary objective is to keep suffered recent severe headache
the patient alive until the cause is determined and possible remedial action taken.3
complained of weakness of the limbs?
Page 775

History Examination
General features requiring assessment:
A history can be obtained from relatives, friends, witnesses, ambulance officers or others. The
setting in which the person is found is important. Evidence of discs or cards identifying an illness breathing pattern:
such as diabetes or epilepsy should be searched for. Is there a known history of hypertension,
heart disease, respiratory disease, psychiatric illness or overdose? Cheyne–Stokes respiration: periodic breathing = cerebral dysfunction

Questions to be considered4 ataxic respiration: shallow irregular breathing = brain-stem lesion

Does the person have diabetes? Kussmaul respiration: deep rapid hyperventilation = metabolic acidosis
Do they use insulin?
breath odour: may be a characteristic feature of alcohol, diabetes, uraemia and hepatic coma
Have they had a recent infection?
Have they recently reduced their food intake (hypoglycaemia)?
 level of consciousness: degree of coma (see TABLE 64.1 ); the Glasgow coma scale (see Disoriented and converses 4
TABLE 64.3 ) and AVPU scale (see TABLE 64.4 ) are frequently used as a guide to the
conscious state Inappropriate words 3
Incomprehensible sounds 2
skin features: look for evidence of injection sites (IV drug use, diabetes), snake bite Page 776
marks, colour (cyanosis, purpura, jaundice, rashes, hyperpigmentation) and texture No response 1
Motor response (M)
circulation
Obeys verbal command 6
pulse oximetry Response to painful stimuli
temperature: consider infection such as meningitis and hyperpyrexia if raised and hypothermia Localises pain 5
(e.g. hypothyroidism) if low Withdraws from pain stimuli 4
hydration: dehydration may signify conditions such as a high fever with infections, uraemia, Abnormal flexion 3
hyperglycaemic coma Extensor response 2
Examination Action No response 1
Is the person breathing? If not, clear airway and ventilate. Coma score = E + V + M
Note chest wall movement. Perform cardiopulmonary Minimum 3
resuscitation if necessary.
Maximum 15
Check pulse and pupils. Consider naloxone.
If 8–10: take care—monitor the airway
Is there evidence of trauma? Consider extradural haematoma.
Is the person hypoglycaemic? Obtain glucometer estimation of
blood sugar.
Table 64.4 AVPU scale
Evidence of diabetes
Are vital functions present yet immediate Place in coma position.
correctable causes eliminated? Awake The person is awake
Verbal The person responds to verbal stimulus
Pain The person responds to a painful stimulus
Table 64.3 Glasgow coma scale Unconscious The person is unresponsive to any stimulus

Score
Eye opening (E) Examination of the head and neck3,4
Spontaneous opening 4 Consider the following:
To verbal command 3
facial asymmetry
To pain 2
No response 1 the skull and neck: palpate for evidence of trauma and neck rigidity

Verbal response (V) eyes, pupils and ocular fundi: look for constricted pupils in opioid overdose
Orientated and converses 5
 tongue Blood tests:

nostrils and ears

– All patients: blood sugar
auscultation of the skull for bruits urea and electrolytes

Examination of the limbs – Selected patients: FBE

blood gases
Consider: liver function tests
blood alcohol
injection marks (IV drug use, diabetes)
serum cortisol
tone of the limbs by lifting and dropping (e.g. flaccid limbs with early hemiplegia) thyroid function tests
serum digoxin
reaction of limbs to painful stimuli

reflexes—tendon reflexes and plantar response

Pulse oximetry
General examination of the body Urine tests:
This should include assessment of the pulses and blood pressure. a urine specimen is obtained by catheterisation

Urine examination test for glucose and albumin

keep the specimen for drug/toxin screening

Catheterisation of the bladder may be necessary to obtain urine. Check the urine for protein,
sugar and ketones. Stomach contents: aspiration of stomach contents for analysis

Diagnosing the hysterical ‘unconscious’ patient
One of the most puzzling problems in emergency medicine is how to diagnose the Page 777
unconscious patient caused by a conversion reaction (hysteria). These patients really experience
their symptoms (as opposed to the pretending patient) and resist most normal stimuli, including
painful stimuli.
Method
Hold the patient’s eye or eyes open with your fingers and note the reaction to light.
Now hold a mirror over the eye and watch closely for pupillary reaction. The pupil should
constrict with accommodation from the patient looking at his or her own image.
Investigations
Appropriate investigations depend on the clinical assessment. The following is a checklist.
Radiology: brain CT or MRI are the investigations of choice (if available). If unavailable, X-
ray of the skull may be helpful.
Cerebrospinal fluid: lumbar puncture, necessary with neck stiffness, has risks in the comatose
patient. A preliminary CT scan is necessary to search for coning of the cerebellum. If clear, the
lumbar puncture should be safe and will help to diagnose subarachnoid haemorrhage and
meningitis.
Electroencephalograph
ECG; look for ↑ QT interval, etc.
Blackouts—episodic loss of consciousness
Episodic or transient loss of consciousness is a common problem. The important causes of
blackout are presented in TABLE 64.5 . The history is important to determine whether the
patient is describing a true blackout or episodes of dizziness, weakness or some other sensation.
Table 64.5 Clinical features of blackouts Epilepsy
Subjective Epilepsy is the commonest cause of blackouts. There are various types, the most dramatic being
Cause Precipitants Observation Recovery the tonic–clonic seizure, which involve a sudden loss of consciousness without warning. See
onset
Reflex Posture Warning of Very pale Gradual CHAPTER 43 .
syncope Stress feeling Sweating Feels
Haemorrhage ‘faint’, ‘terrible’ Locked-in syndrome
‘distant’, Fatigue
Micturition ‘clammy’, This is a state of awareness and wakefulness with quadriplegia and paralysis of the lower cranial
Dehydration ‘sweaty’ Nausea nerves. There is an inability to speak, move or show facial expression. Communication is
possible by coded eye movements. It is invariably caused by a CVA (see CHAPTER 121 ).
Cardiac Various May be Pale Rapid
syncope palpitations May be
including flushing
Orthostatic intolerance and syncope
POTS
syndrome In syncope there is a transient loss of consciousness but with warning symptoms and rapid return
of alertness following a brief period of unconsciousness (seconds to 3 minutes). The three main
Autonomic Postural change Warning Pale Rapid syndromes that are outlined in CHAPTER 43 are reflex syncope, postural orthostatic tachycardia
syncope orthostasis, food, (feels faint) syndrome (POTS) and autonomic failure.
alcohol
Respiratory Cough Warning Pale Rapid Reflex syncope
syncope Weight-lifting (feels faint)
‘Trumpet playing’ Relevant features of reflex syncope or vasovagal or common faint (see TABLE 64.5 ):

Carotid Carotid pressure Warning Pale Rapid occurs with standing or, less commonly, sitting
sinus (e.g. tight collar + (feels faint)
syncope warning feelings of dizziness, faintness or true vertigo
turning neck)
Postendarterectomy nausea, hot and cold skin sensations
Migrainous Foods Scotomas Pale Nausea and fading hearing or blurred vision
syncope Stress vomiting
Sleep deprivation Throbbing sliding to ground (rather than heavy full-length fall)
headache
rapid return of consciousness
Epilepsy Stress Aura with Automatism Slow
Sleep deprivation complex (e.g. pallor, sweating and bradycardia
Confused
partial fidgeting,
Alcohol withdrawal often trigger factors (e.g. emotional upset, pain)
seizures lip
Infection (CPS) smacking)
Menstruation with CPS The person invariably remembers the onset of fainting. Most syncope is of the benign vasomotor
Drug non- type and tends to occur in young people, especially when standing still (e.g. choir boys). It is the
compliance main cause of repeated fainting attacks.

The treatment is to avoid precipitating causes (e.g. prolonged standing, especially in the sun) and
if premonitory signs occur, lie down if possible, or bend forwards with the head down. ‘Smelling
salts’ (ammonium carbonate) can be carried and used in these circumstances.
The clinical features of various types of blackouts are summarised in TABLE 64.5 .
 Page 778
Other forms of syncope
Micturition syncope
This uncommon event may occur after micturition in older men, especially during the night
when they leave a warm bed and stand to void. The cause appears to be peripheral vasodilatation
associated with reduction of venous return from straining.
Cough syncope
Severe coughing can result in obstruction of venous return with subsequent blackout. This is also
the mechanism of blackouts with breath-holding attacks.
Carotid sinus syncope
This problem is caused by pressure on a hypersensitive carotid sinus (e.g. in some elderly people
who lose consciousness when their neck is touched).
Effort syncope
Syncope on exertion is due to obstructive cardiac disorders, such as aortic stenosis and
hypertrophic obstructive cardiomyopathy.
Choking
Sudden collapse can follow choking. Examples include the so-called ‘barbecue coronary’ when
the person, while eating meat, suddenly becomes cyanosed, is speechless and grasps the throat.
This is caused by inhaling a large bolus of meat that obstructs the larynx. To avoid death,
immediate relief of obstruction is necessary. An emergency treatment is the Heimlich
manoeuvre, whereby the person is grasped from behind around the abdomen and a forceful
squeeze applied (may be repeated) to try to eject the food. If this fails, the foreign body may have
to be manually removed from the throat, or CPR commenced.
Page 779
Drop attacks
Drop attacks are episodes of ‘blackouts’ in which the person suddenly falls to the ground and
then immediately gets up again. These involve sudden attacks of weakness in the legs. Although
there is some doubt about whether loss of consciousness has occurred, most individuals cannot
remember the process of falling. Drop attacks occur typically in middle-aged women and are
considered to be brain-stem disturbances producing sudden changes in tone in the lower limbs.
Other causes of drop attacks include vertebrobasilar insufficiency, Parkinson disease and
epilepsy.5
Cardiac arrhythmias
Stokes–Adams attacks (see CHAPTER 59 ) and cardiac syncope are manifestations of recurrent
episodes of loss of consciousness, especially in the elderly, caused by cardiac arrhythmias. These
arrhythmias include complete heart block, sick sinus syndrome and ventricular tachycardia. The
blackout is sudden with the person falling straight to the ground without warning and without
convulsive movements. They go pale at first and then flushed.
Twenty-four-hour ambulatory cardiac monitoring may be necessary to confirm the diagnosis.
People with aortic stenosis are prone to have exercise-induced blackouts. Consider the prolonged
QT interval syndrome in all age groups when the person presents with dizziness or blackouts.
Vertebrobasilar insufficiency
Loss of consciousness can occur rarely with vertebrobasilar insufficiency (VBI) transient
ischaemic attack. Typical preceding symptoms of VBI include dysphasia, dysarthria, vertigo,
vomiting, hemisensory loss, ataxia and transient global amnesia.
Hypoglycaemia
Hypoglycaemia can be difficult to recognise but must be considered as it can vary from a feeling
of malaise and lightheadedness to loss of consciousness, sometimes with a convulsion. There are
usually preliminary symptoms of hunger, sweating, shaking or altered behaviour.
Hypoglycaemic attacks are usually related to diabetes and can occur with sulfonylureas as well
as insulin. Causes of hypoglycaemia are presented in TABLE 64.6 . Refer to CHAPTER 120 .
Table 64.6 Causes of hypoglycaemia (adults)
Diabetes-related including insulin and oral hypoglycaemics
Drugs (e.g. quinine, salicylates, sulfonylureas, beta blockers)
Alcohol
Fasting
Tumours (e.g. insulinomas)
Addison disease
Hypopituitarism
Liver disease
Hypoglycaemic artefacta
Pregnancy
Post bariatric surgery
Gastric ‘dumping’ syndrome
 Glycogen storage disease Take extra care in children who are more sensitive to head injury and need to be kept home for
Autoimmune: antibodies to insulin or insulin receptors around three days.

Head injuries and unconsciousness
Some non-life-threatening head injuries are sufficiently serious to cause significant loss of
consciousness and retrograde amnesia. The clinical terms used to describe brain injury—
concussion, contusion and laceration—simply indicate minor to major degrees of a similar
injury. Severe individual cases of the above can certainly result in fatal outcomes.
Concussion 6
Post-concussion syndrome
Occasionally, a person who has an episode of concussion has persistence of headaches and
dizziness for a number of weeks. Poor memory and concentration and sluggish decision making
indicate impaired mental capacity. Patients with this problem should be investigated with
neuropsychological testing and CT scanning or MRI of the brain.
Page 780
Chronic traumatic encephalopathy

This is a progressive brain disease related to repeated traumatic brain injuries, including
Concussion is a transient disturbance of neurological function (occasionally with loss of concussion and other blows to the head. Symptoms, which are progressive, include cognitive
consciousness) induced by head injury and usually resulting in no persistent abnormal impairment, apathy, depression, short-term memory loss and similar cerebral dysfunction. It is
neurological signs. However, depending on definition, 1–10% may develop post-concussive associated with dementia. Diagnosis is clinical and by cerebral imaging, especially MRI.
symptoms such as headaches, balance problems, fatigue or noise/light sensitivity.7 The features
of the various grades of concussion are shown in TABLE 64.7 . Links to sports concussion tests8
Pocket Concussion Recognition Tool (CRT5)
Table 64.7 Classification of concussion
Sports Concussion Assessment Tool 5th edn (SCAT5), including Child SCAT5 5–12 years
Grade Clinical features
Mild (grade 1) Stunned or dazed Extradural (epidural) haematoma
Sensorium clears in <60 seconds This life-threatening head injury is caused by arterial bleeding between the skull bone and dura
No post-traumatic amnesia mater (see FIG. 64.1 ). Following injury there may be a short lucid interval followed by loss of
± Loss of consciousness consciousness. The patient is restless, confused, irritable (see FIG. 64.2 ), has severe headaches
and develops neurological signs such as seizures, ipsilateral pupil dilatation and facial weakness.
Moderate (grade 2) Stunned or dazed A skull X-ray and CT scan should demonstrate the haematoma. Lumbar puncture is
Sensorium cloudy >60 seconds contraindicated. Urgent decompression of the haematoma is required.
Headache
Amnesia <60 minutes
± Loss of consciousness
Loss of colour vision
Severe (grade 3) Sensorium cloudy >60 seconds
Irritable
Persistent headache
Unsteady gait
± Loss of consciousness
 and/or a midline shift. Neurological referral is urgent.

Psychogenic factors
Psychogenic factors leading to blackouts represent a diagnostic dilemma, especially if occurring
in those with tonic–clonic epilepsy. If the attacks are witnessed by the practitioner, then the
possibility of functional origin can be determined.

Hysterical blackouts or fits are not uncommon and have to be differentiated from Page 781
hyperventilation. It is unusual for hyperventilation to cause unconsciousness but it is
possible to get clouding of consciousness, especially if the person is administered oxygen.

Other features that suggest psychogenic rather than organic factors are:

labile affect

rapidly changing levels of consciousness

FIGURE 64.1 Illustration of sites of subdural and extradural haematomas in well-articulated speech
relation to the dura, skull and brain
bizarre thought control

The person found unconscious8

Most likely causes to consider
Drug overdose, including alcohol

Head injury

Postictal state (epilepsy or CVA)

Hypoglycaemia or ketoacidosis

Subarachnoid haemorrhage

Respiratory failure
FIGURE 64.2 Classic conscious states leading to extradural haematoma after
injury Hypotension, including cardiac arrhythmias or myocardial infarction

Infection, e.g. meningitis

Subdural haematoma
Psychogenic
This is due to a venous bleed between the dura and the arachnoid. It follows injury, which may
be seemingly trivial, especially in the elderly, and may be acute, subacute and chronic. Consider
it in a person with personality change, slowness and unsteadiness of movement, headache, Basic investigations
irritability and fluctuating conscious level. A CT scan or MRI should reveal the haematoma
 Oxygen saturation others due to possible adverse effects including airway problems.10

Blood glucose In the presence of hypoventilation, constricted pupils11 or circumstantial evidence of opioid use,
naloxone (the specific opiate antagonist) should be given intravenously. If there is no response,
Urine or blood drug profile the patient should be intubated before further naloxone is given. Use a nasogastric tube to
prevent acute gastric dilatation.
Brain CT scan
Catheterise to relieve urinary distension, send a urine sample for micro and culture, pregnancy
Lumbar puncture (CT scan permitting) test and drug screen.
Routine blood chemistry
Use of flumazenil
ECG
Flumazenil is a specific benzodiazepine antagonist and may have an important use in the
assessment of the unconscious patient. It can have a dramatic effect on benzodiazepine
Initial management of the unconscious patient overdosage. After an initial dose of 0.2 mg IV, if benzodiazepine overdose is a reasonable
possibility, 0.3–0.5 mg boluses should be given every 1–2 minutes with caution, until a response
The first principle of management of a person found unconscious is to keep them alive by is observed.12
maintaining the airway and the circulation. The basic management essentials are summarised in
TABLE 64.8 .
Opioid (heroin) overdose
Table 64.8 Basic management essentials In a known overdose, treat initially with both IV and IM naloxone:

naloxone 0.4 mg IV (repeat in 3 minutes if necessary)

Keep the person alive (maintain airway and circulation)
Get history from witnesses naloxone 0.4 mg IM (to maintain cover)
Examine the person Page 782
Give ‘coma cocktail’ (TONG)
Take blood (for investigations) Practice tips2
CT scan (if diagnosis doubtful)
An unconscious person who is hypotensive is bleeding until proved otherwise.

The presence of a head injury should not prevent rigorous resuscitation of the
Before embarking on a secondary survey always consider giving the ‘coma cocktail’ (also called hypotensive person.
TONG2 or DONT (dextrose, oxygenation, naloxone, thiamine)), which refers to the combination
of: Always suspect cervical injury in persons who are victims of time-critical trauma.
T = Thiamine 100 mg IM or IV Tachypnoea is a sign of inadequate oxygenation and not a sign of central nerve
O = Oxygenation damage.
N = Naloxone 0.1–0.2 mg IV
G = Glucose i.e. 50 mL, 50% dextrose Always suspect opioid overdosage in the ‘unknown’ person brought in with an
altered conscious state.

The rapid administration of these agents should be considered for any patient3,9 with an altered Consider administration of TONG—the ‘coma cocktail’.
level of consciousness because they may lessen or reverse metabolic insult to the brain. Some
emergency physicians recommend adding flumazenil to the cocktail, but this is not supported by
References Page 783

1 Talley N, O’Connor S. Clinical Examination (3rd edn). Sydney: MacLennan & Petty,
1996: 414.

2 Wassertheil J. Management of neurological emergencies. Melbourne: Monash University, 65 Urinary disorders

Update for GPs: course notes, 1996: 1–10.

3 Kumar PJ, Clark ML. Clinical Medicine (5th edn). London: Bailliere Tindall, 2003: 1161–
2.

4 Davis A, Bolin T, Ham J. Symptom Analysis and Physical Diagnosis (2nd edn). Sydney:
Pergamon Press, 1990: 276–9.
5 Kincaid-Smith P, Larkins R, Whelan G. Problems in Clinical Medicine. Sydney:
MacLennan & Petty, 1990: 340–7.
6 Brukner P et al. Brukner & Khan’s Clinical Sports Medicine (5th edn). Sydney: McGraw-
Hill, 2017: 298–307.
7 Pearce A. For an unlucky 10% of people with concussion, the symptoms may be long-
lasting. The Conversation, 21 May 2019. Available from: https://theconversation.com/for-
an-unlucky-10-of-people-with-concussion-the-symptoms-may-be-long-lasting-116825,
accessed March 2021.
8 Elkington LJ, Hughes DC. Australian Institute of Sport and Australian Medical
Association position statement on concussion in sport. Med J Aust, 2017; 206(1): 46–50.
9 Brown FT. Emergency Medicine: Diagnosis and Management. Oxford: Butterworth
Heinemann, 2004: 43–6.
As men draw near the common goal,
Can anything be sadder
Than he who, master of his soul,
Is servant to his bladder?
ANONYMOUS, SPECULUM, 1938
Disturbances of micturition are a common problem in general practice, with an annual incidence
of about 20 per 1000 patients at risk.1 Such disturbances include dysuria, frequency of
micturition, difficulty or inability to initiate micturition, stress incontinence and haematuria.
These symptoms are three times as common in women as in men.1 The combination of dysuria
and frequency is the most common of the symptoms with an incidence of about 14 per 1000
patients and a female:male ratio of 5:1.1
Dysuria is present at least occasionally in approximately 3% of adults older than 40 years.2 With
the exception of enuresis (CHAPTER 84 ), disturbances of micturition are uncommon in
children.

10 Sivilotti N. Flumazenil, naloxone and the ‘coma cocktail’. B J Clinical Pharmacology,

Dysuria and frequency
2015; 81(3): 428–33.
Dysuria (difficult and/or painful micturition [uralgia]) is characterised mainly by urethral and
11 Webster V. Trauma. Melbourne: RACGP Check Program 293, 1996: 3–14. suprapubic discomfort, and indicates mucosal inflammation of the lower genitourinary tract (i.e.
the urethra, bladder or prostate). The passage of urine across inflamed mucosa causes pain.
12 McGirr J, McDonagh T. Management of acute poisoning. Current Therapeutics, 1995; Frequency can vary from being negligible to extreme. It can be ‘habit frequency’ or associated
36(5): 51–9. with anxiety, which is typically long term and worse with stress and cold weather. In these
conditions urinalysis is normal. Sometimes haematuria and systemic symptoms can accompany
dysuria and frequency.

A summary of the diagnostic strategy model for dysuria is presented in TABLE 65.1 .

Table 65.1 Dysuria: diagnostic strategy model

Probability diagnosis
UTI, esp. cystitis (female) Is the patient trying to tell me something?
Urethritis Consider psychosexual problems, anxiety and hypochondriasis.
Urethral syndrome (female)
Vaginitis
Serious disorders not to be missed Key facts and checkpoints1,3
Neoplasia:
Strangury = difficult and painful micturition with associated spasm.
bladder
prostate Inflammation usually results in the frequent passage of small amounts of urine and
urethra a sense of urgency.
Severe infections:
Urethritis usually causes pain at the onset of micturition.
gonorrhoea
chlamydia Cystitis usually causes pain at the end of micturition.
genital herpes
Suprapubic discomfort is a feature of bladder infection (cystitis).
Reactive arthritis
Calculi (e.g. bladder) Vesicocolonic fistulas (e.g. prostatic cancer) cause severe dysuria, pneumaturia
and foul-smelling urine.
Pitfalls (often missed)
Menopause syndrome Dysuria and frequency are most common in women aged 15–44 years.
Adenovirus urethritis They are four times more common in sexually active women.
Prostatitis
Foreign bodies in lower urinary tract (LUT) Vaginitis is an important cause and must be considered.
Acute pelvic or retrocaecal appendicitis
Dysuria and discomfort is a common feature of postmenopausal syndrome, due to
Acidic urine atrophic urethritis. The urethra and lower bladder are oestrogen-dependent.
Acute fever
Interstitial cystitis Have a low threshold for testing for Chlamydia urethritis.
Urethral caruncle/diverticuli (usually postmenopausal) Urinary infection and other disorders can be quite asymptomatic.
Vaginal prolapse
Obstruction:
benign prostatic hyperplasia Is it really a urinary tract infection?
urethral stricture
phimosis Although UTIs account for the majority of cases of dysuria in women it must be remembered
meatal stenosis that vaginitis and postmenopausal atrophic vaginitis can cause dysuria (see FIG. 65.1 ).
Vaginitis is the most common cause of dysuria in the child and adolescent age group and is a
Seven masquerades checklist relatively common cause of dysuria in family practice, estimated at around 15%. Postmenopausal
oestrogen deficiency can cause recurrent dysuria, so consider prescribing topical oestrogen
Depression
where appropriate. Acute bacterial cystitis accounts for about 40% of causes of dysuria.
Diabetes
Drugs
UTI

FIGURE 65.1 Relative causes of dysuria in women
The dysuria associated with vaginitis may be described as burning ‘on the outside’ with the
discomfort usually felt at the beginning or end of micturition. It may be accompanied by vaginal
irritation or discharge. If vaginitis is suspected, a pelvic examination should be carried out to
inspect the genitalia and obtain swabs.2
Page 784
Urethral syndrome
Also known as chronic sterile inflammatory disorder, abacterial cystitis, interstitial cystitis or
‘painful bladder syndrome’. It presents with lower urinary tract symptoms (LUTS), particularly
suprapubic pain on bladder filling, or symptoms of urethritis (usually frequency and urgency;
dysuria is variable). It affects women more than men. Management, which is difficult, is
supportive.
The clinical approach
History
It is important to determine whether dysuria is really genitourinary in origin and not attributable
to functional disorders, including psychosexual problems. Disturbances of micturition are
uncommon in young males, and if present suggest venereal infection.
Key questions
Could you describe the discomfort?
What colour is your urine?
Does it have a particular odour?
Have you noticed a discharge?
If so, could it be sexually acquired?
Do you find intercourse painful or uncomfortable?
Have you any fever, sweats or chills?
Examination
The general inspection and examination should include measurement of the basic parameters of
pulse, temperature and blood pressure. The possibility of underlying kidney disease, especially in
the presence of an obstructive component, should be kept in mind.
Abdominal palpation should focus on the loins and suprapubic areas. The possibility of sexually
transmitted infections should also be considered; genital and rectal examination may be
appropriate. In the menopausal female, a dry atrophic urethral opening, a urethral caruncle or
urethral prolapse may give the clue to this important cause of dysuria.
Page 785
Investigations
Basic investigations include:
dipstick testing of urine
microscopy and culture (midstream specimen of urine, or suprapubic puncture in children),
and possibly urethral swabs or first pass urine for sexually transmitted infections
where relevant, first pass urine NAAT (PCR test) for chlamydia and gonorrhoea
Further investigations depend on initial findings and referral for detailed investigation will be
necessary if the primary cause cannot be found.
The management of urinary tract infection is presented in CHAPTER 16 .
Haematuria
Haematuria is the presence of blood in the urine and can vary from frank bleeding (macroscopic)
to the microscopic detection of red cells. Haematuria can occur in a wide variety of disorders but
a careful history and examination can often lead to the source of the bleeding and help with the
selection of investigations. Macroscopic haematuria is often a sign of a serious underlying
disorder.
Key facts and checkpoints The clinical approach
History
Macroscopic haematuria is the presence of blood visible to the naked eye. It is
always abnormal except in menstruating women. Is it really haematuria? In many patients the underlying disorder may be suspected from a
detailed enquiry about associated urinary symptoms. The presence of blood can be verified
Small amounts of blood (1 mL/1000 mL urine) can produce macroscopic
rapidly by microscopy so that red discolouration due to haemolysis, beetroot or red food dye can
haematuria.
be discounted.
Microscopic haematuria is the presence of blood in the urine that can be detected The time relationship of bleeding is useful because, as a general rule, haematuria occurring in the
only by microscopic or chemical methods.
first part of the stream suggests a urethral or prostatic lesion, while terminal haematuria suggests
Microscopic haematuria includes the presence of red blood cells (RBC) >8000 per bleeding from the bladder. Uniform haematuria has no localising implications.
mL of urine (phase contrast microscopy) or >2000 per mL of urine (light
It is most unusual for haematuria to cause anaemia unless it is massive. Massive haematuria is a
microscopy) representing the occasional RBC on microscopic examination. feature of radiation cystitis.
Joggers and athletes engaged in very vigorous exercise can develop transient Painful haematuria is suggestive of infection (including sexually acquired urethritis), urethral
microscopic or even macroscopic haematuria. caruncle, calculi or kidney infarction, while painless haematuria is commonly associated with
infection, trauma, tumours or polycystic kidneys. Loin pain can occur as a manifestation of
Microscopic (asymptomatic haematuria) can be classified as either:
nephritis and may be a feature of bleeding in cancer of the kidney or polycystic kidney.
glomerular (from kidney parenchyma): common causes are IgA nephropathy and
A drug history is relevant, especially with anticoagulants and cyclophosphamide. A diet history
thin membrane disease4 should also be considered.
or It is worth noting that large prostatic veins, secondary to prostatic enlargement located at the
non-glomerular (urological): the common causes are bladder cancer, benign bladder neck, may rupture when a man strains to urinate.
prostate hyperplasia and urinary calculi A summary of the diagnostic strategy model for haematuria is presented in TABLE 65.2 .
Common sources of macroscopic haematuria are the bladder, urethra, prostate and Page 786
kidney.5
Table 65.2 Haematuria: diagnostic strategy model
Macroscopic haematuria occurs in 70% of people with bladder cancer and 40%
with kidney cancer.5
Probability diagnosis
Common urological cancers that cause haematuria are the bladder (70%), kidney
(17%), kidney pelvis or ureter (7%) and prostate (5%).6 Infection:
cystitis
It is important to exclude kidney damage, so patients should have blood pressure, urethritis
urinary protein (ACR) and plasma creatinine levels measured as a baseline. pyelonephritis
All patients presenting with macroscopic haematuria or recurrent microscopic prostatitis
haematuria require judicious investigation, which may involve both radiological Calculi—kidney, ureteric, bladder
investigation of the upper urinary system and visualisation of the lower urinary
system to detect or exclude pathology. Serious disorders not to be missed
Cardiovascular:
kidney infarction
 kidney vein thrombosis Consider artefactual haematuria.
prostatic varices
Neoplasia:
kidney tumour
urothelial: bladder, kidney, pelvis, ureter Key questions
prostate cancer Have you had an injury such as a blow to the loin, pelvis or genital area?
Severe infections:
infective endocarditis Is the redness at the start or end of your stream or throughout the stream?
kidney tuberculosis Have you noticed any bleeding elsewhere, such as bruises or nose bleeds?
blackwater fever
Glomerulonephritis (e.g. post-streptococcal, IgA nephropathy) Have you experienced any pain in the loin or abdomen?
Kidney papillary necrosis
Have you noticed any burning or frequency of your urine?
Other kidney disease, e.g. polycystic kidneys, medullary sponge kidney
Have you had any problems with the flow of your urine?
Pitfalls (often missed)
Urethral prolapse/caruncle Have you been having large amounts of beetroot, red lollies or berries in your diet?
Pseudohaematuria (e.g. beetroot, porphyria)
Could your problem have been sexually acquired?
Haemorrhagic cystitis
Benign prostatic hyperplasia Have you been overseas recently?
Trauma: blunt or penetrating
Have you been exposed to chemicals (e.g. dyes, rubber) in your work?
Foreign bodies
Bleeding disorders Have you been aware of any other symptoms?
Vigorous exercise
Do you engage in strenuous sports such as jogging?
Radiation cystitis
Menstrual contamination Have you had any kidney problems in the past?
Rarities:
hydronephrosis Are you taking blood-thinning drugs?
Henoch–Schönlein purpura
Examination
bilharzia
schistosomiasis The general examination should include looking for signs of a bleeding tendency and anaemia,
polycystic kidneys and recording the parameters of temperature, blood pressure and the pulse (see FIG. 65.2 ). The
benign renal masses heart should be assessed to exclude atrial fibrillation or infective endocarditis with emboli to the
kidney, and the chest should be examined for a possible pleural effusion associated with
endometriosis (bladder) perinephric or kidney infections.
systemic vasculitides
Seven masquerades checklist
Drugs (cytotoxics, anticoagulants)
UTI
Is the patient trying to tell me something?
 The suprapubic region should be examined for evidence of bladder tenderness or enlargement. In
men the prostate should be examined rectally to detect benign or malignant enlargement or
tenderness from prostatitis.

In women, consider a pelvic examination to search for possible pelvic masses. The urethral
meatus should be inspected to exclude a urethral caruncle (‘raspberry tumour’) or urethral
prolapse.

Page 787

Investigations
It is important to identify the cause, especially if a possible sequela is impaired kidney function.

Urinalysis by dipstick testing (note: high vitamin C intake can interfere).

Urine microscopy:

formed RBCs in true haematuria

red cell morphology can assist in determining whether the source is glomerular or urinary
tract

FIGURE 65.2 Features to consider in the physical examination of the patient
with haematuria
The abdomen should be examined for evidence of a palpable enlarged kidney or spleen. The
different clinical findings for an enlarged left kidney and spleen are shown in TABLE 65.3 .
Kidney enlargement may be due to kidney tumour, hydronephrosis or polycystic disease.
Splenomegaly suggests the possibility of a bleeding disorder.
red cell casts and dysmorphic red cells indicate glomerular origin
Urinary culture: early culture is important because of the common association with infection
and consideration of early treatment with antibiotics. If tuberculosis is suspected, three early
morning urines should be cultured for tubercle bacilli.
Urinary cytology: this test, performed on a urine sample, may be useful to detect malignancies
of the bladder and lower tract but is usually negative with kidney cancer. Sensitivity can be
increased by testing mid morning or random specimens from three separate voids.

Table 65.3 Differences between spleen and left kidney on Blood tests: appropriate screening tests include a full blood count, ESR and basic kidney
abdominal examination function tests (urea and creatinine). If glomerulonephritis is suspected, antistreptolysin O titres
and serum complement levels should be measured. PSA is appropriate if prostate cancer is
suspected.
Spleen Left kidney
Palpable upper border Impalpable Palpable Radiological techniques—available tests include:7
Movement with inspiration Inferomedial Inferior
intravenous urography (IVU); intravenous pyelogram (IVP)—previously the key
Notch Yes No investigation, largely superseded by CT
Ballotable No Yes
ultrasound (less sensitive at detecting LUT abnormalities)
Percussion Dull Resonant (usually)
CT (with or without contrast), e.g. KUB (kidney, ureter, bladder) Page 788
Friction rub Possible Not possible
MRI
 kidney angiography factors and glomerular disease must be excluded in the athlete with regular haematuria,
especially if dysmorphic red cells are found on microscopy.
retrograde pyelography

Direct imaging techniques: these include urethroscopy, cystoscopy and ureteroscopy. Unless a
renal cause is identified, referral to urologist for consideration of cystoscopy is advisable.
Kidney biopsy: indicated if glomerular disease is suspected.
Artefactual haematuria
Macroscopic haematuria can be a presenting symptom of people with Munchausen syndrome or
those seeking opioids by simulating renal colic. If suspected, it is wise to get these people to pass
urine in the presence of an appropriate witness before examining the urine.

Red flags for urgent surgical intervention Urethral caruncle

Anuria This is a benign granulomatous tumour about the size of a pea in the distal urethra. Almost
exclusive to postmenopausal women, it is very tender and bleeds easily. The main symptom is
Single kidney haematuria. It may require cystoscopy and biopsy for diagnosis. Treatment includes warm salt
baths and oestrogen creams. Otherwise obliteration by laser vaporisation, cryotherapy, cautery or
Bilateral obstruction even surgical excision is used.

Concurrent UTI and urolithiasis Bladder cancer8

Bladder cancer is the seventh most common malignancy, with 90% being transitional cell
Pseudohaematuria carcinomas. Other forms include squamous cell carcinoma and adenocarcinoma. Smoking is the
most common association. There is little evidence that drinking chlorinated water can
Pseudohaematuria is red urine caused by pigments other than red blood cells that simply stain the predispose.9
culture red.
Clinical features
Causes include:
Haematuria/microhaematuria
anthocyanins in food (e.g. beetroot, berries)
Irritative symptoms: frequency, urgency, nocturia
red-coloured confectionery
Dysuria
porphyrins
Diagnosis
free haemoglobin (e.g. haemoglobinuria)
Urine cytology: three specimens
myoglobin (red-black colour)
Cystoscopy and biopsy
drugs (e.g. pyridium, phenolphthalein—alkaline urine)
Imaging of upper tracts: ultrasound, CT IV urethrogram is the gold standard
Exercise haematuria
Differential diagnosis is haemorrhagic cystitis
Exercise or sports haematuria is the passage of a significant number of red cells in the urine
during or immediately after exercise, particularly long runs with under-hydration. It has been Management
recorded in a wide variety of athletes, including swimmers and rowers. Dipstick testing is usually
positive in these athletes. Despite the theory that it is largely caused by the posterior wall of the Treatment depends on the staging and grading.
bladder impacting repetitively on the base of the bladder during running, there are other possible
 The common carcinoma in situ is treated with intravesical BCG immunotherapy. This 6-week
course and follow-up if necessary leads to 60–75% remission.
Other intravesical agents used include various cytotoxics (e.g. mitomycin C).
Other treatments include surgery such as tumour resection plus intravesical agents, bladder
resection (partial or total) and radio–chemotherapy.
Regular surveillance, which may be lifelong, is essential.
Glomerulonephritis10
Glomerulonephritis means kidney inflammation involving the glomeruli. It can be simply
classified into:
acute nephritic syndrome: haematuria + dysmorphic RBCs/casts + hypertension
oedema
↑ s. creatinine
oliguria
IgA nephropathy
Typically presents as haematuria (smokey urine) in a young male adult at the time of or within
1–2 days of a mucosal infection (usually throat, influenza or URTI) and persists for several days.
Other presentations are as incidentally found microscopic haematuria or as previously
unsuspected chronic kidney failure.
Due to deposition of IgA antibody complexes in the glomeruli, it runs a variable course, but
prognosis is usually good. There is no specific treatment to date but immune suppression may be
used. Refer suspected cases immediately. Diagnosis is by biopsy.

nephrotic syndrome: oedema + hypoalbuminaemia + proteinuria Page 789 Acute post-streptococcal glomerulonephritis
asymptomatic kidney disease Typically seen in children (>5 years), especially in Aboriginal and Torres Strait Islander
communities following GABHS throat infection or impetigo. Presents after a gap of 1–2 weeks.
DxT haematuria + dysmorphic RBCs/casts + hypertension → acute
nephritic syndrome Clinical features
Irritable, lethargic, sick child

The main causes of glomerulonephritis–nephritic syndrome are: Haematuria: discoloured urine (‘Coke’ urine)

IgA nephropathy (Berger disease—most common) Peri-orbital oedema (may be legs, scrotum)

Rapid weight gain (from oedema)

anti-glomerular basement membrane disease (has an AD genetic link), aka Goodpasture
disease Scanty urine output (oliguria)
post-streptococcal glomerulonephritis
Hypertension → may be complications
systemic vasculitis—ANCA associated
Usual course
others, e.g. SLE
Oliguria 2 days
Nephritic syndrome Oedema and hypertension 2–4 days

Feature is haematuria + dysmorphic RBCs and casts (microscopy) plus one of following: Invariably resolves

proteinuria (mild to moderate) Good long-term prognosis

hypertension Diagnosis
 GABHS antigens Note: These all require exclusion and follow-up.

Blood urea, creatinine, C3&4 (complement), ASOT, anti-DNase B Kidney disease

Glomerulonephritis
Treatment Nephrotic syndrome
Hospital admission Congenital tubular disease, e.g.
polycystic kidney
Bed rest kidney dysplasia
Strict fluid balance chart Acute tubular damage
Kidney papillary necrosis, e.g.
Daily weighing analgesic nephropathy
diabetic papillary necrosis
Penicillin (if GABHS +ve)
Overflow proteinuria, e.g.
Fluid restriction multiple myeloma, monoclonal gammopathy
Systemic diseases/conditions affecting the glomeruli:
Low protein, high carbohydrate, low salt diet
diabetes mellitus
Antihypertensives and diuretics (as necessary) hypertension
SLE
Follow-up: monitor BP and kidney function. Regular urinalysis (microscopic haematuria may
pre-eclampsia
last for years).
malignancy
DxT discoloured urine + peri-orbital oedema + oliguria → post- drugs (e.g. penicillamine, gold salts)
streptococcal glomerulonephritis amyloid
vasculitides
No kidney disease
Proteinuria Orthostatic proteinuria
Exercise
Proteinuria is an important and common sign of kidney disease. The protein can originate from
Emotional stress
the glomeruli, the tubules or the LUT. Healthy people, however, do excrete some protein in the
urine, which can vary from day to day and hour to hour; hence the value of collecting it over 24 Fever
hours or comparing the albumin against the standard rate of filtered creatinine (i.e. ACR). While Cold exposure
proteinuria can be benign, it always requires further investigation. Important causes of Postoperative
proteinuria are presented in TABLE 65.4 . Acute medical illness (e.g. heart failure)

Table 65.4 Important causes of proteinuria Page 790

Key facts and checkpoints11

Transient
Contamination from vaginal secretions The amount of protein in the urine is normally less than 100 mg/24 hours.
Urinary tract infection
Pre-eclampsia Greater than 300 mg/24 hours is abnormal in children and adults.
 If accompanied by dysmorphic haematuria or red cell casts, this tends to confirm and other possible complications of diabetes. The use of antihypertensives, particularly ACEi
glomerular origin. and ARBs, at the microalbuminuria stage may slow the development of overt nephropathy.

Routine dipstick testing will detect levels greater than 300 mg/24 hours (ACR of 30–
Consequences of proteinuria
300 mg/g) only and thus has limitations.12
While proteinuria is usually simply a marker of kidney disease, heavy proteinuria in excess of
In diabetics, microalbuminuria is predictive of nephropathy and an indication for
3 g/24 hours may have severe clinical consequences, including oedema, intravascular volume
early blood pressure treatment.
depletion, venous thromboembolism, hyperlipidaemia and malnutrition.

Minimal change glomerulonephritis is the commonest cause of the nephrotic syndrome in

childhood and accounts for about 30% of adult nephrotic syndrome.8 It is steroid responsive.
Urine albumin–creatinine ratio (ACR)
Nephrotic syndrome10,11
Remember the rough ‘rule of 3’ for ACR levels (units are mg/g):13
DxT proteinuria + generalised oedema + hypoalbuminaemia → nephrotic
<3 is normal syndrome

3–30 is mild elevation

Nephrotic syndrome occurs at any age but is more common in children and has primary and
30–300 is moderate (‘trace protein’ on dipstick) secondary causes that require elucidation.
>300 is severe albuminuria. Page 791
Clinical features
If proteinuria is confirmed on repeated dipstick testing it should be measured more accurately by Proteinuria >3 g/day (+++ or ++++1 on dipstick)
measuring the albumin–creatinine ratio (ACR), which is preferable to a 24-hour urinary protein
as it avoids finicky 24-hour collections. Refer to CHAPTER 79 . High values require referral for Swelling of eyelids and face
investigation. The minimum investigations are microurine and assessment of kidney function
(eGFR). Nephrotic range proteinuria (>3 g/24 hours) is due to one or other form of Generalised oedema, especially peripheral oedema
glomerulonephritis in over 90% of patients.10 Possible contamination from vaginal secretions or
from a low UTI needs to be excluded. Hypertension

Hypoalbuminaemia <30 g/L

Orthostatic proteinuria
Hypercholesterolaemia >4.5 mmol/L
Orthostatic proteinuria is the presence of significant proteinuria after the patient has been
standing but is absent from specimens obtained following recumbency for several hours, such as Waxy pallor
an early morning specimen.
Normal BP
It occurs in 5–10% of people,6 especially during their adolescent years. In the majority it is of no
significance and eventually disappears without the development of significant kidney disease. Dyspnoea
However, in a small number the proteinuria can foreshadow serious kidney disease.
Frothy urine
Diabetic microalbuminuria Predisposes to sepsis (e.g. peritonitis, pyelonephritis, thromboembolism).
The presence of protein in the urine is a sensitive marker of diabetic nephropathy, so regular
screening for microalbuminuria in those with diabetes is an important predictor of nephropathy
Causes
 1 in 3 (approx.): Diet modification: low fluid, protein consideration, low salt

systemic kidney disease (e.g. diabetes, SLE, amyloid, hepatitis B/C) Medication may include:

2 in 3 (approx.): diuretics

minimal change disease (most common) ACE inhibitors or ARBs

idiopathic nephrotic syndrome (based on kidney biopsy) prednisolone

focal glomerular sclerosis pneumococcal vaccination

membranous nephropathy penicillin

membranoproliferative glomerulonephritis statins

Others: drugs, malignancy, infection, e.g. malaria aspirin

Glossary of terms Urinary Incontinence

Functional incontinence Loss of urine secondary to factors extrinsic to the urinary A summary of the types of incontinence and their causes is presented in TABLE 65.5 .
tract (e.g. dementia, endocrine causes).

Nocturnal enuresis (or bed-wetting) Involuntary urine loss during sleep. Table 65.5 Types of incontinence and their implied causes

Overactive bladder (detrusor instability) The most common cause of urge Type of incontinence Likely cause
incontinence; synonymous with an irritable or unstable bladder; characterised by
involuntary bladder contractions, resulting in a sudden urge to urinate, usually Stress incontinence Pelvic floor or sphincter weakness
accompanied by frequency and nocturia, with or without incontinence. Urge incontinence Detrusor overactivity or low compliance
Overflow incontinence Escape of urine following poor bladder emptying. Mixed urinary Both pelvic floor weakness and detrusor overactivity
incontinence
Stress incontinence The involuntary loss of urine on coughing, sneezing, straining
Quiet dribble Variable, may be due to overflow (i.e. incomplete
or lifting, or any factor that suddenly increases intra-abdominal pressure.
incontinence emptying)
Urge incontinence Involuntary loss of urine associated with urgency. Continuous leakage Fistula, ectopic ureter, patulous urethra

Urinary incontinence The involuntary loss of urine during the day or night. Reflex incontinence Neuropathic bladder
(without warning)

Treatment
Female urinary incontinence
Immediate referral to renal physician or unit
Urinary leakage affects around 37% of adult women in Australia.14 Despite its prevalence, many
Bed rest women will not seek treatment. The most common types are stress incontinence, urge
incontinence and mixed (both stress and urge).
Treat causative disorder
Assessment Management
The basic assessment of the person with incontinence requires a careful history and examination,
Stress incontinence17
exclusion of infection and the keeping of a micturition or bladder chart. Use of a severity index
questionnaire is very helpful. Drugs that adversely affect urinary function are presented in Pelvic floor muscle training (see below)
TABLE 65.6 . If central nervous system pathology is suspected, referral to a neurologist is
required. Weight reduction if obese
Page 792 Vaginal oestrogen therapy may help some postmenopausal women

Table 65.6 Drugs that can cause or aggravate Referral for surgical therapy is appropriate if symptoms are severe or unresponsive to
incontinence conservative treatment

ACE inhibitors Causes of incontinence

phenoxybenzamine (Dibenyline)
prazosin A mnemonic: DIAP2E2RS2:15,16
labetalol D = Delirium/dementia
Bladder relaxants → overflow incontinence:
anticholinergic agents I = Infection of urinary tract
tricyclic antidepressants
A = Atrophic urethritis
Bladder stimulants → urge incontinence:
cholinergic agents P = Pharmacological (e.g. diuretics)
caffeine
P = Psychological (e.g. acute distress)
Sedatives → urge incontinence:
antidepressants E = Endocrine (e.g. hypercalcaemia, diabetes insipidus)
antihistamines
E = Environmental (e.g. unfamiliar surrounds)
antipsychotics
hypnotics R = Restricted mobility
tranquillisers
S = Stool impaction
Others → urge incontinence:
alcohol S = Sphincter damage or weakness
loop diuretics (e.g. frusemide), other diuretics
lithium

The severity index questionnaire

Investigations
How often do you experience urine leakage?
Urine microscopy and culture is important to exclude infection, haematuria and glycosuria.
0 = never
Urinary tract ultrasound is often appropriate to measure the post residual volume (>100 mL is
abnormal). Urodynamic studies may be required to dispel doubt about the diagnosis, especially 1 = less than once a month
with suspected voiding difficulty, neuropathy, failed treatment or when considering surgery.
 2 = one or several times a month a basic first step is to delay voiding when possible and wait for the urge to pass

3 = one or several times a week best performed with supervision of a physiotherapist or continence nurse

4 = every day and/or night Anticholinergic/antispasmodic drugs (see below) Page 793

How much urine do you lose each time? Vaginal oestrogen therapy may help some post menopausal women

1 = drops or little Intravesical treatment with botulinum toxin (second line)

2 = more Neuromodulation—electrical stimulation of the sacral nerve (third line)

The total score is the score for the first question multiplied by the score for the Anticholinergic/antispasmodic drugs18
second question.
These may be worth a trial for overactive bladder or urge incontinence. They are less effective
0 = dry, 1–2 = slight, 3–4 = moderate, 6–8 = severe for stress incontinence:

oxybutynin 2.5–5 mg (o) bd or tds

Pelvic floor muscle training18,19
oxybutynin transdermal patch 3.9 mg (top) twice weekly
Evidence is strong. Compared to placebo or no treatment, women with stress incontinence
solifenacin 5–10 mg (o) daily
given pelvic floor training were eight times more likely to report a ‘cure’ (56% vs 6%).
tolterodine 2 mg (o) bd
Best in motivated young women with stress incontinence.
darifenacin 7.5–15 mg (o) daily
At least 3 months trial with supervision (physiotherapist or continence nurse).

Basic techniques: Bladder dysfunction (in women during night)

Advise the patient to pull up her pelvic muscles to imagine herself stopping passing urine (or
controlling diarrhoea) and hold the ‘squeeze’ for a count of 10. Repeat many times daily. Women with urethral syndrome constantly wake at night with urge to micturate but produce only
Refer to the Patient Education hand-out at the end of this chapter. a small dribble of urine.

Instruct patient to perform a pelvic tilt exercise by balancing on upper back, lifting her pelvis
Urge incontinence with knees flexed and holding position for 30 seconds
Lifestyle intervention: Squeeze pelvic floor inwards (as though holding back urine or faeces)
Alter fluid intake—decrease to reduce urinary frequency, increase to improve urine Repeat a few times
concentration

Reduce intake of bladder irritants—caffeine, alcohol, carbonated beverages Uterovaginal prolapse20

Avoid constipation
Bladder retraining
includes pelvic floor muscle therapy, a scheduled voiding program with gradual increases
in the duration between voids, urge suppression techniques with distraction or relaxation
Uterovaginal prolapse is very common, eventually affecting 50% of parous women. The main
complaint is of ‘heaviness’ in the vagina and a sensation of ‘something coming down’. Relevant
symptoms that are of considerable distress (depending on the type of prolapse) include voiding
difficulties, urinary stress incontinence, faecal incontinence, incomplete rectal emptying and
recurrent cystitis. Backache is a common associated symptom, usually relieved by lying down.
Classification of prolapse cessation and exercise. Aggravating comorbidities such as constipation, atrophic vaginitis and
COPD require optimal treatment. Consider topical oestrogens in post menopausal women.
See FIGURE 65.3 .
Prevention
Cystocele—bladder descends into vagina
Promote optimal obstetric management, especially postpartum exercises, lifelong pelvic floor
Urethrocele—urethra bulges into vagina exercises, ideal weight and sensible bladder and bowel function.
Rectocele—rectum protrudes into vagina
Ring pessaries
Enterocele—loop of small intestine bulges into vagina (usually posterior wall)
Pessaries are an option for those who are poor anaesthetic risks, too frail for surgery, don’t want
Uterine—uterus and cervix descend towards vaginal introitus: surgery, are young and have not completed their family or are awaiting surgery. The correct-
sized pessary needs to be fitted individually. Topical oestrogens will improve comfort. The
first degree—cervix remains in vagina pessary needs to be cleaned or changed every 4–6 months.

second degree—cervix protrudes on coughing/straining Page 794

Surgery
third degree (procidentia)—uterus lies outside vagina
Refer to a gynaecological surgeon if a woman who is fit for surgery has symptomatic prolapse
that warrants surgery, especially with associated voiding problems or obstructed defecation. The
principles of reconstructive pelvic surgery are to:

reposition pelvic structures to normal anatomical relationships

restore and maintain urinary and/or faecal continence

maintain sexual function

correct coexisting pelvic pathology

Options include repair procedures (vaginally, sometimes abdominally, per laparoscopy),

colpo/vaginal suspension and hysterectomy (vaginal or abdominal).

FIGURE 65.3 Uterovaginal prolapse

Patient education resource
Hand-out sheet from Murtagh’s Patient Education 8th edition:
Examination
Incontinence of urine
This is best performed with women in the left lateral position using a Sims speculum or posterior
blade of the Graves speculum. Ask the patient to cough or bear down (several times)—observe
anterior, posterior and lateral vaginal walls and descent of cervix. References
Management 1 Cormack J, Marinker M, Morrell D. Practice. A Handbook of Primary Medical Care.
London: Kluwer-Harrap Handbooks, 1980: 3.51: 1–10.
As a rule asymptomatic prolapse does not need invasive treatment, just basic reassurance and
education, including pelvic floor exercises (see earlier in this chapter). Consider referral to a 2 Michels TC, Sands JE. Dysuria: evaluation and differential diagnosis in adults. Am Fam
physiotherapist. Lifestyle measures include optimal nutrition, weight loss if obese, smoking
 Physician, 2015 (1 Nov); 92(9): 778–86. 19 2011: 288–94.

3 Kincaid-Smith P, Larkins R, Whelan G. Problems in Clinical Medicine. Sydney: 20 Haylen B. Pelvic organ prolapse. Australian Doctor, 21 February 2014: 23–30.
MacLennan & Petty, 1990: 105–8.

4 Mathew T. Microscopic haematuria: how to treat. Australian Doctor, 27 April 2007: 27–
34.

5 Walsh D. Symptom Control. Boston: Blackwell Scientific Publications, 1989: 229–33.

6 George C. Haematuria and proteinuria: how to treat. Australian Doctor, 15 March 1991: I–
VIII.

7 Choyke PL. Radiologic evaluation of hematuria: guidelines from the American College of
Radiology’s appropriateness criteria. Am Fam Physician, 2008 (1 Aug); 78(3): 347–52.

8 Gray S, Frydenberg M. Bladder cancer: how to treat. Australian Doctor, 21 November

2008: 29–36.

9 Chlorine and cancer. Updated 9 September 2019. Cancer Council Western Australian.
Available from: https://www.cancerwa.asn.au/resources/cancermyths/chlorine-cancer-
myth/, accessed March 2021.

10 Faull R. Glomerulonephritis: how to treat. Australian Doctor, 8 February 2002: I–VIII.

11 Thomson N. Managing the patient with proteinuria. Current Therapeutics, 1996; 9: 7–28.

12 Wen CP et al. Urine dipstick to detect trace proteinuria: an underused tool for an
underappreciated risk marker. Am J Kidney Dis, 2011 Jul; 58(1): 1–3.

13 Albuminuria categories in CKD. ACR. National Kidney Foundation. Available from:

https://www.kidney.org/kidneydisease/siemens_hcp_acr, accessed March 2021.

14 Key statistics on incontinence. Continence Foundation of Australia. Available from:

https://www.continence.org.au/about-us/our-work/key-statistics, accessed March 2021.

15 Jayasuriya P. Urinary incontinence: how to treat. Australian Doctor, 11 May 2001: I–VIII.

16 Whishaw DMK. Urinary incontinence in the frail female: how to treat. Australian Doctor,
25 July 2008: 29–36.

17 Qaseem A et al. Nonsurgical management of urinary incontinence in women: a clinical

practice guideline from the American College of Physicians. Ann Intern Med, 2014;
161(6): 429–40.

18 Haylen B. Advances in incontinence treatment. Australian Doctor, 10 September 1999:

66–70.

Mazza D. Women’s Health in General Practice (2nd edn). Sydney: Elsevier Australia,
 Page 795
66 Visual failure
All those, therefore, who have cataract see the light more or less, and by this we distinguish
cataract from amaurosis and glaucoma, for persons affected with these complaints do not
perceive the light at all.
PAUL OF AEGINA (615–690 CE)
The commonest cause of visual dysfunction is a simple refractive error. However, there are many
causes of visual failure, including the emergency of sudden blindness, a problem that requires a
sound management strategy. Apart from migraine, virtually all cases of sudden loss of vision
require urgent treatment.
The ‘white’ eye or uninflamed eye presents a different clinical problem from the red or inflamed
eye.1 The ‘white’ eye is painless and usually presents with visual symptoms and it is in the
‘white’ eye that the majority of blinding conditions occur.
Criteria for blindness and driving
This varies from country to country. The WHO defines blindness as ‘best visual acuity less than
3/60’, while in Australia eligibility for the blind pension is ‘bilateral corrected visual acuity less
than 6/60 or significant visual field loss’ (e.g. a patient can have 6/6 vision but severely restricted
fields caused by chronic open-angle glaucoma). The minimum standard for driving is 6/12
(Snellen system) in the better eye or bilaterally. Commercial licence standards are stricter (see
Austroads guidelines).
The clinical approach
History
The history should carefully define the onset, progress, duration, offset and the extent of visual
loss. An accurate history is important because a visual defect (particularly unilateral) may only
just have been noticed by the patient, even if it has been longstanding. Two questions need to be
answered:
Is the loss unilateral or bilateral?
Is the onset acute, or gradual and progressive?
Key facts and checkpoints
The commonest cause of blindness in the world is trachoma. The other major
causes of gradual blindness are cataracts, onchocerciasis and vitamin A
deficiency.2
In Western countries, the commonest causes are senile cataract, glaucoma, age-
related macular degeneration, trauma and diabetic retinopathy.2
The commonest causes of sudden visual loss are migraine and transient occlusion
of the retinal artery (amaurosis fugax).3
‘Flashing lights’ are caused by traction on the retina and may have a serious
connotation: the commonest cause is vitreoretinal traction, which is a classic
precursor to retinal detachment.
The presence of floaters or ‘blobs’ in the visual fields indicates pigment in the
vitreous: causes include vitreous haemorrhage and vitreous detachment.
Posterior vitreous detachment is the commonest cause of the acute onset of
floaters, especially with advancing age.
Retinal detachment has a tendency to occur in short-sighted (myopic) people.
Suspect a macular abnormality where objects look smaller or straight lines are bent
or distorted.
The distinction between central and peripheral visual loss is useful. Central visual loss presents
as impairment of visual acuity and implies defective retinal image formation (through refractive
error or opacity in the ocular media) or macular or optic nerve dysfunction. Peripheral field loss
is more subtle, especially when the onset is gradual, and implies extramacular retinal disease or a
defect in the visual pathway.
It is important to differentiate the central field loss of macular degeneration from the hemianopia
of a CVA.
A drug history is very important (see TABLE 66.1 ). Tuberculosis treatment with ethambutol or
quinine/chloroquine can be oculotoxic. The family history is relevant for diabetes, migraine,
Leber hereditary optic atrophy, Tay–Sachs disease and retinitis pigmentosa.
Page 796
Table 66.1 Zigzag lines → migraine
Systemic drugs that can cause ocular
side effects Vision worse at night or in dim light → retinitis pigmentosa, hysteria, syphilitic retinitis

Alcohol/ethanol/methanol Headache → temporal arteritis, migraine, benign intracranial hypertension

Amiodarone Central scotomata → macular disease, optic neuritis

Antihypertensives e.g. β Blockers
Pain on moving eye → retrobulbar neuritis
Bisphosphonates
Distortion, micropsia (smaller), macropsia (larger) → macular degeneration
Chloroquine/hydroxychloroquine/quinine
Cyclosporin Visual field loss:
Cytotoxic agents, e.g. vincristine central loss—macular disorder
Corticosteroids
total loss—arterial occlusion
Disulfiram
Erectile dysfunction agents peripheral loss
Ethambutol It is worth noting that if a patient repeatedly knocks into people and objects on a particular side
Indomethacin (including traffic accidents), a bitemporal or homonymous hemianopia should be suspected.
Nitrofurantoin
Diseases/disorders to exclude or consider
Phenothiazines
Diabetes mellitus
Phenytoin
Tacrolimus Giant cell (temporal) arteritis
Tamsulosin Hypopituitarism (pituitary adenoma)
Tamoxifen
Cerebrovascular ischaemia/carotid artery stenosis (emboli)
Tetracyclines, e.g. minomycin
Thiazides Multiple sclerosis
Tricyclics Cardiac disease (e.g. arrhythmias, and SBE—emboli)
Topiramate
Anaemia (if severe can cause retinal haemorrhage and exudate)

Marfan syndrome (subluxated lenses)

Questions directed to specific symptoms
Malignancy (the commonest cause of eye malignancy is melanoma of the choroid)
Presence of floaters → normal ageing (especially ≥55 years) with posterior vitreous
detachment or may indicate haemorrhages or choroiditis Examination
Flashing lights → normal ageing with posterior vitreous detachment or indicates traction on
The same principles of examination should apply as for the red eye. Testing should include:
the retina (?retinal detachment)
visual acuity (Snellen chart)—with pinhole testing
Coloured haloes around lights → glaucoma, cataract
 pupil reactions, to test afferent (sensory) responses to light

confrontation fields (using a red pin)

fundus examination with dilated pupil (ophthalmoscope), noting:

the red reflex

appearance of the retina, macula and optic nerve

Depending on circumstances, also consider:

Amsler grid (or graph paper)

colour vision (Ishihara chart)

tonometry

General examination
General examination should focus on the general features of the patient, the nervous system,
endocrine system and cardiovascular system.

Slit-lamp examination (biomicroscopy)

Usually performed with fluorescein dye, it provides a precise stereoscopic view of the eyelids,
conjunctiva, cornea, iris, sclera, anterior chamber (measures depth), lens, anterior vitreous and
retina. It is very useful for identifying corneal lesions, uveitis and scleritis. FIGURE 66.1 Diagrammatic representation of important causes of sudden
painless loss of vision (right side) and typical defects in the visual fields (left
Page 797 side)
Perimetry
Investigations
Various defects in the visual fields are depicted in FIGURE 66.1 .
Depending on the clinical examination, the following tests can be used selectively to confirm the
diagnosis:

blood tests:

full blood (?anaemia, lead poisoning, leukaemia)

ESR (?temporal arteritis)

blood sugar (?diabetes mellitus)

temporal artery biopsy (?temporal arteritis)

CT/MRI scan (?CVA, optic nerve lesions, space-occupying lesions)

 formal perimetry and Bjerrum screen Correct any refractive error, usually by prescription of glasses.

fluorescein angiography (?retinal vascular obstruction, diabetic retinopathy)

Some important guidelines in children
visual evoked responses (?demyelinating disorders)
Referral
carotid Doppler ultrasound
Refer if any of the following are present in infants:
B-scan ocular ultrasound
nystagmus
Visual failure in children a wandering eye

There are long lists of causes for visual failure or blindness in children. An approximate order of
frequency of causes of blindness in children is cortical blindness, optic atrophy, choroidoretinal
degeneration, cataract and retinopathy of prematurity. Almost half the causes of blindness in
Western nations are genetically determined, in contrast to the nutritional and infective causes that
predominate in developing countries.4 About 3% of children will fail to develop proper vision in
at least one eye.
The eyes of all babies should be examined at birth and at 6 weeks.
Strabismus
Amblyopia
Amblyopia, referred to as ‘lazy eye’, is defined as a reduction in visual acuity due to abnormal
visual experience in early childhood. It is the main reason for poor unilateral eyesight until
middle age and is usually caused by interference with visual development during the early
months and years of life.
a lack of fixation, or lack of following movements
photophobia
opacities (seen with ophthalmoscope set on +3, held 30 cm from baby’s eye)
delayed development
The two serious squints are the constant and alternating ones, which require early referral.
Transient squint and latent squint (occurs under stress, e.g. fatigue) usually are not a problem.
Always refer children with strabismus (squint) when first seen to exclude ocular pathology
such as retinoblastoma, congenital cataract and glaucoma, which would require emergency
surgery.

The common causes are: Page 798 Children with strabismus (even if the ocular examination is normal) need specialist
management because the deviating eye will become amblyopic (a lazy eye with reduced
strabismus vision, i.e. ‘blind’) if not functioning by 7 years of age. The younger the child, the easier it is
to treat amblyopia; it may be irreversible if first detected later than school age. Surgical
large refractive defect, especially hypermetropia correction of a true squint is preferred at 1–2 years of age. (See also CHAPTER 85 .)
congenital cataract
Cataracts
Principles of management5 Children with suspected cataracts must be referred immediately; the problem is very serious as
the development of vision may be permanently impaired (amblyopia).2 Cataracts are diagnosed
Most cases are treatable. by looking at the red reflex and this should be a routine part of the examination of a young child.
Early diagnosis and intervention is fundamental to achieving useful vision. Common conditions causing cataracts are genetic disorders and rubella but most causes are
unknown. Rarer conditions, such as galactosaemia, need to be considered.
No child is too young to have the visual system assessed.
Refractive errors
The good eye should be patched in order to utilise the affected eye.
Refractive errors, with the error greater in one eye, can cause amblyopia. Detection of refractive
Remove a remedial cause such as strabismus. errors is an important objective of screening.
Retinoblastoma
Retinoblastoma, although rare, is the commonest intra-ocular tumour in childhood. It must be
excluded in any child presenting with a white pupil. Such children also have the so-called ‘cat’s
eye reflex’. In 30% of patients the condition is bilateral with an autosomal dominant gene being
responsible.
Visual failure in the elderly
Most patients with visual complaints are elderly; failing vision affects perception of the
environment and the ability to communicate effectively. Typical causes are cataracts, vascular
disease, macular degeneration, chronic simple glaucoma and retinal detachment. Retinal
detachment and diabetic retinopathy can occur at any age, although they are more likely with
increasing age. Macular degeneration in its various forms is the commonest cause of visual
deterioration in the elderly. For the elderly with cataracts the decision to operate depends on the
patient’s vision and their ability to cope. Most patients with a vision of 6/18 or worse in both
eyes usually benefit from cataract extraction, but some can cope with this level of vision and rely
on a good, well-placed (above and behind) reading light.6
Sudden loss of vision in the elderly is suggestive of temporal arteritis or vascular embolism, so
this problem requires immediate attention.
Floaters and flashes (photopsia)
When the vitreous gel shrinks as part of the normal ageing process, it tugs on the retina (rods and
cones), causing flashing lights. When the gel separates from the retina, floaters (which may
appear as dots, spots or cobwebs) are seen. Floaters are more commonly seen with age, but are
also more common in people who are myopic or who have had eye surgery such as removal of
cataracts. It is important to consider retinal detachment but if floaters remain constant there is
little cause for concern. The appearance of a fresh onset of flashes or floaters is of concern, with
the two important causes being retinal detachment and posterior vitreous detachment.
Page 799
Haloes
Haloes around lights may result from cataracts, acute angle-closure glaucoma, chronic glaucoma,
dry eyes and corneal haziness including excessive tears and/or mucus or drugs, e.g. chloroquine,
digoxin.
Refractive errors
Indistinct or blurred vision is most commonly caused by errors of refraction—the commonest
being myopia.
In the normal eye (emmetropia) light rays from infinity are brought to a focus on the retina by
the cornea (contributing about two-thirds of the eye’s refractive power) and the lens (one-third).
Thus, the cornea is very important in refraction; abnormalities such as keratoconus may cause
severe refractive problems.6
The important clinical feature is that where there is a refractive error only, the use of a simple
‘pinhole’ in a card will usually improve blurred vision or reduced acuity.1
Pinhole test
The pinhole reduces the size of the blur circle on the retina in the uncorrected eye. A pinhole acts
as a universal correcting lens. If visual acuity is not normalised by looking through a card with a
1 mm pinhole, then the defective vision is not solely due to a refractive error. The pinhole test
may actually help to improve visual acuity with some cataracts. Further investigation is
mandatory.
Myopia (short/near-sightedness)
Close objects appear clearly but far objects are blurred. The image is focused in front of the
retina. This is usually progressive in the teens. Highly myopic eyes may develop retinal
detachment, macular degeneration or glaucoma.
Management
Glasses with a concave lens
Contact lenses
Consider radial keratotomy or excimer laser surgery
Hypermetropia (long/far-sightedness)
The image is focused behind the retina. This condition is more susceptible to closed-angle
glaucoma. In early childhood it may be associated with convergent strabismus (squint), and
spectacle correction alone may straighten the eyes. It is mostly overcome by the accommodative
power of the eye, though it may cause reading difficulty. Typically, the long-sighted person
needs reading glasses at about 30 years. A positive converging (convex lens) is used for
correction.
Presbyopia
The process of accommodation is required for focusing closer objects. This process, which relies
on the action of ciliary muscles and lens elasticity, is usually affected by ageing, so that from the
age of 45 close work becomes gradually more difficult.6 There is a need for near correction with
loss of accommodative power of the eye in the 40s.
 Progressive bilateral visual loss
Astigmatism Table 66.3

This results from non-spherical (variable) curvature of the lens or cornea. This creates the need Globe Chronic glaucoma
for a corrective lens that is more curved in one meridian than another because the cornea does Senile cataracts
not have even curvature. If uncorrected, this may cause headaches of ocular origin. Conical
cornea is one cause of astigmatism. Retina Macular degeneration
Retinal disease:
Keratoconus diabetic retinopathy
retinitis pigmentosa
Keratoconus is a bulging, slowly progressive thinning and distortion of the cornea, leading to
choroidoretinitis
loss of visual acuity—commonly irregular astigmatism. It usually appears between the ages of 10
and 25 and seems to be genetically determined. Frequent changes of glasses is a feature and Optic nerve Optic neuropathies
contact lenses may help. If not, corneal transplant surgery may be necessary.
Optic nerve compression (e.g. aneurysm, glioma)

Cataract Toxic damage to optic nerves

Optic chiasma Chiasmal compression: pituitary adenoma,
The term ‘cataract’ describes any lens opacity. The symptoms depend on the degree and the site craniopharyngioma, etc.
of opacity. Cataract causes gradual visual loss with normal direct pupillary light reflex.
Occipital cortex Tumours
The prevalence of cataracts increases with age: 65% at age 50–59, and all people aged over 80 Degenerative conditions
have opacities.3 Significant causes of cataracts are presented in TABLE 66.2 and causes of
progressive visual loss in TABLE 66.3 . Note: Unilateral causes (e.g. cataract, refractive errors, uveitis, glaucoma, progressive optic atrophy and tumours) can affect the second eye.

Page 800
Typical symptoms:
Table 66.2 Causes of cataracts
reading difficulty

Advancing age difficulty in recognising faces

Systemic disease, e.g. diabetes mellitus, myotonic dystrophy
problems with driving, especially at night
Smoking cigarettes
Steroids (topical or oral) difficulty with television viewing
Radiation: long exposure to UV light or X-rays
reduced ability to see in bright light
TORCH organisms → congenital cataracts
Trauma may see haloes around lights
Uveitis
Significant alcohol consumption The type of visual distortion seen by patients is illustrated in FIGURE 66.2 .
Malnutrition
Dystrophia myotonica
Galactosaemia → congenital cataract

Progressive bilateral visual loss

 FIGURE 66.3 Settings of the ophthalmoscope used to examine intra-ocular
structures
FIGURE 66.2 Blurred vision: appearance of a subject through the eyes of a
person with cataracts Management
Photo courtesy Allergan Pharmaceuticals Advise extraction of the cataract when the patient cannot cope. Contraindications for extraction
include intra-ocular inflammation and severe diabetic retinopathy. There is no effective medical
Examination treatment for established cataracts. The removal of the cataractous lens requires optical
correction to restore vision and this is usually performed with an intra-ocular lens implant. Full
Reduced visual acuity (sometimes improved with pinhole) visual recovery may take 2–3 months. Complications are uncommon yet many patients may
require YAG laser capsulotomy to clear any opacities that may develop behind the lens implant.
Diminished red reflex on ophthalmoscopy
Postoperative advice to the patient
A change in the appearance of the lens
Avoid bending over for a few weeks.
The red reflex and ophthalmoscopy
Avoid strenuous exercise.
The ‘red reflex’ is a reflection of the fundus when the eye is viewed from a distance of about
60 cm (2 feet) with the ophthalmoscope using a zero lens. This reflex is easier to see if the pupil The following drops may be prescribed:
is dilated. Commencing with the plus 15 or 20 lens, reduce the power gradually and, at plus 12,
lens opacities will be seen against the red reflex, which may be totally obscured by a very dense steroids (to reduce inflammation)
cataract. The setting up of the ophthalmoscope to examine intra-ocular structures is illustrated in
FIGURE 66.3 . antibiotics (to avoid infection)

dilators (to prevent adhesions)

Prevention
Sunglasses, particularly those that wrap around and filter UV light, may offer protection against
cataract formation.

Page 801

Glaucoma
Glaucoma, which is caused by raised intra-ocular pressure, is categorised as open-angle or Optic disc cupping >30% of total disc area
closed-angle and further as primary or secondary and acute or chronic. Open-angle glaucoma,
also known as chronic simple glaucoma, is the commonest cause of irreversible blindness in Screening
middle age.1 At a very late stage, it presents as difficulty in seeing because of loss of the outer
fields of vision due to optic atrophy (see FIG. 66.4 ). Acute glaucoma, on the other hand, has a Adults 40 years and over: 2–5 yearly (at least 2 yearly over 60)
relatively rapid onset over a few days.
Start about 30 years, then 2 yearly if family history

Management
Treatment can prevent visual field loss

Medication (for life) usually selected from:7

timolol or betaxolol drops bd

Note: These beta blockers can cause systemic complications, e.g. asthma

latanoprost (or other prostaglandin analogue) drops, once daily

pilocarpine drops qid

dipivefrine drops bd

brimonidine drops bd

FIGURE 66.4 Typical visual field loss for chronic simple glaucoma; a similar acetazolamide (oral diuretics)
pattern occurs with retinitis pigmentosa and functional visual loss (previously
termed ‘hysteria’) Surgery or laser therapy for failed medication

Clinical features (chronic glaucoma) Retinitis pigmentosa

Familial tendency Primary degeneration of the retina is a hereditary condition characterised by a degeneration of
rods and cones associated with displacement of melanin-containing cells from the pigment
No early signs or symptoms epithelium into the more superficial parts of the retina.

Central vision usually normal Typical features

Insidious progressive restriction of visual field resulting in ‘tunnel vision’ Begins as night blindness in childhood

Investigations Visual fields become concentrically narrowed (periphery to centre), i.e. tunnel vision

Tonometry Blind by adolescence (sometimes up to middle age)

Upper limit of normal is 22 mmHg Irreversible course—may be delayed by vitamin A8

Ophthalmoscopy Examination (ophthalmoscopic)

 Irregular patches of dark pigment, especially at periphery optic neuritis

Optic atrophy → disc pallor migraine

Intra-ocular foreign body bilateral: bilateral optic nerve lesion

A small metal chip may penetrate the eye with minimal pain and the patient may not present with functional (‘hysteria’, conversion reaction)
an ocular problem until the history of injury is long forgotten.

If infection does not supervene, presentation may be delayed for months or years until vision
deteriorates due to metal degradation. The iris becomes rust-brown. It is important to X-ray the Table 66.4
eye if it has been struck by a hammered fragment or if in any doubt at all about the mechanism of Causes of sudden loss of vision7
the injury.1
Unilateral
Bilateral Transient Permanent
Chronic uveitis
Vascular Occipital cortex Amaurosis fugax Central retinal
causes ischaemia Transient ocular artery occlusion
Pain and redness may be minimal with this chronic inflammation, which often accompanies
chronic systemic conditions (e.g. sarcoidosis). If untreated, visual loss often develops from Pituitary apoplexy ischaemia Central retinal vein
secondary glaucoma and cataract. The pupil is bound to the lens by synechiae and is distorted. Homonymous Retinal emboli occlusion
Treatment may involve long-term topical corticosteroids. hemianopia—vascular Malignant Vitreous
hypertension haemorrhage
HIV infection Ischaemic optic
neuropathy
AIDS is associated with serious ocular complications, including Kaposi sarcoma of the Page 802 Other Bilateral optic neuritis Acute angle Optic neuritis
conjunctivae, retinal haemorrhage and vasculitis.3 Another problem is ocular cytomegalovirus causes Toxic damage to optic closure glaucoma Retinal detachment
infection, which presents as areas of opacification with haemorrhage and exudates. nerve: Uhthoff Optic nerve
methanol phenomenon compression
Sudden loss of vision ethanol Papilloedema Carcinomatous
tobacco Posterior vitreous optic neuropathy
This problem is alarming and distressing to the patient; considerable empathy is needed. Initial detachment Intra-ocular tumour
lead
presentation may confuse with seemingly inappropriate behaviour; be very careful before Leber optic atrophy
diagnosing as psychogenic in origin.
Quinine poisoning of
A comparison of bilateral and unilateral causes of sudden loss of vision is presented in retina
TABLE 66.4 , and the diagnostic strategy model in TABLE 66.5 . A simplified classification is: Cerebral oedema
Occipital lobe trauma
unilateral: retinal detachment Craniopharyngioma
Functional
retinal artery occlusion (‘hysterical’)

retinal vein thrombosis

temporal arteritis
Table 66.5 Acute or subacute painless loss of vision:
Table 66.5 Acute or subacute painless loss of vision:
diagnostic strategy model
A flow chart for the diagnosis of painless loss of vision is presented in FIGURE 66.5 .

Probability diagnosis
Amaurosis fugax
Migraine
Retinal detachment
‘Wet’ macular degeneration
Serious disorders not to be missed
Cardiovascular:
central retinal artery occlusion
central retinal vein occlusion
hypertension (complications)
CVA
Neoplasia:
intracranial tumour
intra-ocular tumour:
primary melanoma
retinoblastoma
metastases
Vitreous haemorrhage
AIDS
Temporal arteritis
Acute glaucoma
Benign intracranial hypertension
Pitfalls (often missed)
Papilloedema
Optic neuritis
Intra-ocular foreign body
Posterior uveitis
Seven masquerades checklist
FIGURE 66.5 Diagnosis of painless loss of vision
Diabetes (diabetic retinopathy)
Drugs (quinine) Source: Reproduced with permission of Dr J Reich and Dr J Colvin

Thyroid disorder (hyperthyroidism)

Is this patient trying to tell me something? Amaurosis fugax
Consider ‘hysterical’ blindness, although it is uncommon.
Amaurosis fugax is transient loss of vision (partial or complete) in one eye due to transient
occlusion of a retinal artery. It is painless and lasts less than 60 minutes. It is usually caused by traction or bleeding from abnormal new vessels.6 Associations include ocular trauma, diabetic
an embolus from an atheromatous carotid artery in the neck. The most common emboli are retinopathy, tumour and retinal detachment.
cholesterol emboli, which usually arise from an ulcerated plaque.7 Other causes include emboli
from the heart, temporal arteritis and benign intracranial hypertension. Other symptoms or signs Clinical features
of cerebral ischaemia, such as transient hemiparesis, may accompany the symptom. The source
of the problem should be investigated. The risk of stroke after an episode of amaurosis fugax Sudden onset of floaters or ‘blobs’ in vision
appears to be about 2% per year.7
May be sudden loss of vision
Transient ocular ischaemia Visual acuity depends on the extent of the haemorrhage; if small, visual acuity may be normal
Unilateral loss of vision provoked by activities such as walking, bending or looking upwards is Ophthalmoscopy may show reduced light reflex: there may be clots of blood that move with the
suggestive of ocular ischaemia.7 It occurs in the presence of severe extracranial vascular disease vitreous (a black swirling cloud).
and may be triggered by postural hypotension and ‘stealing’ blood from the retinal circulation.
Management
Retinal detachment 9
Urgent referral to exclude retinal detachment
Retinal detachment may be caused by ocular trauma, thin retina (myopic people), previous
surgery (e.g. cataract operation), choroidal tumours, vitreous degeneration or diabetic Exclude underlying causes such as diabetes
retinopathy.
Ultrasound helps diagnosis
Page 803
May resolve spontaneously
Clinical features
Bed rest encourages resolution
Sudden onset of floaters, flashes or black spots
Surgical vitrectomy for persistent haemorrhage
Blurred vision in one eye becoming worse

A dark shadow peripherally, progressing centrally over days/weeks Central retinal artery occlusion
Partial or total loss of visual field (total if macula detached) The cause is usually arterial obstruction by atherosclerosis, thrombi or emboli. There may be a
history of TIAs. Exclude temporal arteritis (immediately measure ESR).
Ophthalmoscopy may show detached retinal fold as large grey shadow in vitreous cavity.
Clinical features
Management
Sudden loss of vision like a ‘curtain descending’ in one eye (same as amaurosis fugax, but
Immediate referral for sealing of retinal tears doesn’t resolve)

Small holes treated with laser or freezing probe Vision not improved with 1 mm pinhole

Pneumatic retinopexy is an option Usually no light perception

True detachments usually require surgery Ophthalmoscopy

Vitreous haemorrhage Initially normal

Haemorrhage may occur from spontaneous rupture of vessels, avulsion of vessels during retinal May see retinal emboli or pale swelling
 Classic ‘red cherry spot’ at macula ‘Dry’ MD (9 out of 10 cases of MD) develops more slowly and is always painless.

Management More common with increasing age (usually over 60), when it is termed ‘age-related MD’, and
in those with myopia (relatively common).
Urgent referral to an ophthalmologist but if seen early, or opthalmologist delayed, use this
procedure within 30 minutes: May be familial.

massage globe digitally through closed eyelids (use rhythmic direct digital pressure for at least Clinical features
5 minutes)—may dislodge embolus distally
Sudden fading of central vision (see FIG. 66.6 )
rebreathe carbon dioxide (paper bag) or inhale special CO2 mixture (carbogen) Page 804
Distortion of vision
intravenous acetazolamide (Diamox) 500 mg
Straight lines may seem wavy and objects distorted
refer urgently (less than 6 hours)—exclude temporal arteritis
Use a grid pattern (Amsler chart): shows distorted lines
Prognosis is poor. Significant recovery is unlikely unless treated immediately (within 30
minutes). Central vision eventually completely lost

Peripheral fields normal

Central retinal vein thrombosis
Thrombosis is associated with several possible factors, such as hypertension, diabetes,
thrombocytopenia, glaucoma and hyperlipidaemia. It usually occurs in the elderly.

Clinical features
Sudden loss of central vision in one eye (if macula involved): can be gradual over days

Vision not improved with 1 mm pinhole

Ophthalmoscopy shows swollen disc and multiple retinal haemorrhages, ‘stormy sunset’
appearance.

Management
Refer to an ophthalmologist. No immediate treatment is effective. The cause needs to be found FIGURE 66.6 Appearance of a subject through the eyes of a person with age-
first and treated accordingly. Some cases respond to fibrinolysin treatment. Laser related macular degeneration
photocoagulation may be necessary in later stages if neovascularisation develops, to prevent
thrombotic glaucoma. Intravitreal injection of a monoclonal antibody is also an option. Photo courtesy Allergan Pharmaceuticals

Ophthalmoscopy
Macular degeneration
Page 805
White exudates, haemorrhage in retina
There are two age-related types: exudative or ‘wet’ (acute), and pigmentary or ‘dry’
(slow onset). Macula may look normal or raised
‘Wet’ MD is caused by choroidal neovascular membranes that develop under the retina of the
Management
macular area and leak fluid or bleed. It is a serious disorder.
No treatment is available to reverse MD. However ‘wet’ MD should be referred urgently for Biopsy temporal artery (if there is a localised tender area)
treatment to slow its progression: regular intravitreal injection of antivascular endothelial growth
factor drugs (e.g. ranibizumab, bevacizumab) into the vitreous humour.10 The Age-Related Eye Retinal migraine
Disease Study provided confirmatory evidence that the chronic pigmentation type responds to
free-radical treatment with the antioxidants vitamins A, C, E and zinc using beta-carotene, Migraine may present with symptoms of visual loss (‘aura’). Associated headache and nausea
15 mg; vitamin C, 500 mg; vitamin E, 400 IU; and 80 mg zinc oxide.11 Advise patient to cease may be absent.
smoking if applicable.12 Low vision aids my be beneficial.
Clinical features
Drusen
Zigzag lines or lights
Drusen are small yellow deposits under the retina composed of lipids, a fatty protein. They are
part of ageing and harmless per se, but having drusen increases a person’s risk of developing dry Multicoloured flashing lights
MD.
Unilateral or bilateral field deficit
Temporal arteritis Resolution within a few hours
With temporal arteritis (giant cell arteritis) there is a risk of sudden and often bilateral occlusion
of the short ciliary arteries supplying the optic nerves, with or without central retinal artery Posterior vitreous detachment
involvement.13 Page 806
The vitreous body collapses and detaches from the retina. It may lead to retinal
detachment.
Clinical features14
Usually older person: over 65 years Clinical features

Sudden loss of central vision in one eye (central scotoma) Sudden onset of floaters

Can rapidly become bilateral Visual acuity usually normal

Associated temporal headache or jaw claudication (around 60%) Flashing lights indicate traction on the retina

Temporal arteries tender, thickened and non-pulsatile (around 30%) Management

Visual acuity—blurred, diplopia; severely impaired (around 20%) Refer to an ophthalmologist urgently.

Afferent pupil defect on affected side An associated retinal hole or detachment needs exclusion.

Usually elevated ESR >40 mm

Optic (retrobulbar) neuritis
Ophthalmoscopy shows optic disc swollen at first, then atrophic. The disc may appear quite
Causes include multiple sclerosis, neurosyphilis and toxins. A significant number of cases
normal.
eventually develop multiple sclerosis.
Management
Clinical features
Other eye must be tested
Usually a woman 20–40 years (multiple sclerosis)
Immediate corticosteroids (60–100 mg prednisolone daily for at least 1 week)
Loss of vision in one eye over a few days
 Retro-ocular discomfort with eye movements Omitting to consider temporal arteritis as a cause of sudden visual failure in the elderly.

Variable visual acuity Using eyedrops to dilate the pupil (for fundal examination) in the presence of glaucoma.

Usually a central field loss (central scotoma)

When to refer
Afferent pupil defect on affected side
Most problems outlined need urgent referral to an ophthalmologist, especially retinal
Ophthalmoscopy detachment.

Optic disc swollen if ‘inflammation’ anterior in nerve Acute visual disturbance of unknown cause requires urgent referral.

Optic atrophy appears later Any blurred vision—sudden or gradual, painful or painless—especially if 1 mm pinhole fails
to alter visual acuity.
Disc pallor is an invariable sequel
Refer all suspicious optic discs.
Management
Cataracts when visual impairment seriously affects everyday activities.
Test visual field of other eye

MRI Practice tips

Most patients recover spontaneously but are left with diminished acuity Tonometry is advised routinely for all people over 40 years; those over 60 years
should have tests every 2 years.
Intravenous steroids hasten recovery and have a protective effect against the development of
further demyelinating episodes Any family history of glaucoma requires tonometry from 40 years onwards.

Corneal disorders
People with corneal conditions typically suffer from ocular pain or discomfort and reduced
vision. The common condition of dry eye may involve the cornea while contact lens disorders,
abrasions/ulcers and infections are common serious problems that threaten eye sight.
Inflammation of the cornea—keratitis—is caused by factors such as ultraviolet light, e.g. ‘arc
eye’, herpes simplex, herpes zoster ophthalmicus and the dangerous ‘microbial keratitis’.
Bacterial keratitis is an ophthalmological emergency that should be considered in the contact lens
wearer presenting with pain and reduced vision. Topical corticosteroids should be avoided in the
undiagnosed red eye.
Refer to CHAPTER 40 for corneal lesions.
Pitfalls
Mistaking the coloured haloes of glaucoma for migraine.
Failing to appreciate the presence of retinal detachment in the presence of minimal visual
impairment.
Sudden loss of vision in the elderly suggests temporal arteritis (check the ESR
and temporal arteries). It requires immediate institution of high-dose steroids to
prevent blindness in the other eye. A time-scale guide showing the rate of visual
loss is presented in TABLE 66.6 .
Temporal arteritis is an important cause of retinal artery occlusion.
Suspect field defect due to chiasmal compression if people are misjudging when
driving.
Pupillary reactions are normal in cortical blindness.
Central retinal artery occlusion may be overcome by early rapid lowering of intra-
ocular pressure.
Retinal detachment and vitreous haemorrhage may require early surgical repair.
Keep in mind antioxidant therapy (vitamins and minerals) for chronic macular
degeneration.
Consider multiple sclerosis foremost if there is a past history of transient visual
 failure, especially with eye pain.

If the person develops an eye symptom after using a hammer, always X-ray if no Patient education resources
metal fragment can be seen on examination.
Hand-out sheets from Murtagh’s Patient Education 8th edition:

Page 807 Cataracts

Table 66.6 Colour blindness

Time-scale guide for rate of visual
loss3,7 Floaters and flashes

Glaucoma
Sudden: less than 1 hour
Amaurosis fugax Macular degeneration
Central retinal artery occlusion
Hemianopias from ischaemia (emboli) References
Migraine
Vitreous haemorrhage 1 Colvin J, Reich J. Check Program 219–220. Melbourne: RACGP, 1990: 1–32.
Acute angle glaucoma
2 Hopcroft K, Forte V. Symptom Sorter (4th edn). Oxford: Ratcliffe Publishing, 2010: 138.
Papilloedema
3 Thomson J et al. Cataracts. Prim Care, 2015 Sept; 42(3): 409–23.
Within 24 hours
Central retinal vein occlusion 4 Robinson MJ, Roberton, DM. Practical Paediatrics (5th edn). Melbourne: Churchill
Functional (hysteria) Livingstone, 2003: 756–70.

Less than 7 days 5 Cole GA. Amblyopia and strabismus. In: MIMS Disease Index (2nd edn). Sydney: IMS
Retinal detachment Publishing, 1996: 20–4.
Optic neuritis
6 Elkington AR, Khaw PT. ABC of Eyes. London: British Medical Association, 1990: 20–
Acute macular problems 38.
Up to several weeks (variable)
7 Li T et al. Comparative effectiveness of first-line medications for primary open-angle
Choroiditis glaucoma: a systematic review and network meta-analysis. Ophthalmology, 2016; 123(1):
Malignant hypertension 129–40.
Gradual 8 Berson EL et al. Association of vitamin A supplementation with disease course in children
Compression of visual pathways with retinitis pigmentosa. JAMA Ophthalmol, 1 May 2018; 136(5): 490–5.
Chronic glaucoma
9 Jalali S. Retinal detachment. Community Eye Health, 2003; 16(46): 25–6.
Cataracts
Diabetic maculopathy 10 Hodge C, Ng D. Eye emergencies. Check Program 400. Melbourne: RACGP, 2005: 1–34.
Retinitis pigmentosa
11 Bunting R, Guymer R. Treatment of age-related macular degeneration. Aust Prescr, 2012;
Macular degeneration
35: 90–3.
Refractive errors
12 Age-Related Eye Disease Study Research Group. A randomized, placebo-controlled,
 clinical trial of high-dose supplementation with vitamins C and E, beta-carotene, and zinc Page 808
for age-related macular degeneration and vision loss. Arch Ophthalmol, 2001; 119: 1417–
36.

13 Singh A et al. Visual manifestations in giant cell arteritis: trend over 5 decades in a
population-based cohort. J Rheumatol, 2015; 42(2): 309–15.
67 Weight change
14 Gonzalez-Gay MA et al. Giant cell arteritis and polymyalgia rheumatica: an update. Curr
Rheumatol Rep, 2015 Sept; 17(2): 6.

Everything in excess is opposed to nature.

HIPPOCRATES, 460–370 BC

In Australia, as in most other developed nations, the population health issue of having too much
body weight has far outstripped the health issue of being underweight. The vexing problem of
obesity is covered in the chronic disease section (see CHAPTER 80 ). However, the relatively
short-term gain or loss of weight presents a significant diagnostic challenge in general practice,
particularly as so many underlying conditions can result in weight change.

Weight gain

Key facts and figures

Two-thirds of the Australian population are overweight or obese and only 2–4%
underweight.1

Less than 1% of obese people have an identifiable secondary cause of obesity.2

Two conditions causing unexplained weight gain that can be diagnosed by the
physical examination are Cushing syndrome and hypothyroidism.

After pregnancy, obesity may result from a failure to return to prepartum energy
requirements.

Even small weight losses are effective in preventing diabetes and improving the
cardiovascular risk profile.3

A diagnostic approach
A summary of the diagnostic strategy model is presented in TABLE 67.1 .
Table 67.1 Weight gain: diagnostic strategy model
Probability diagnosis
Probability diagnosis The outstanding cause of weight gain in exogenous obesity is excessive calorie intake coupled
Exogenous obesity with lack of exercise, and influenced heavily by socio-environmental factors (see
CHAPTER 80 ).
Alcohol excess
Drugs
Serious causes not to be missed
Serious disorders not to be missed
It is important not to misdiagnose hypothalamic disorders, which may result in hyperphagia and
Cardiovascular:
obesity. Injury to the hypothalamus may occur following trauma and encephalitis and with a
cardiac failure variety of tumours, including craniopharyngiomas, optic gliomas and pituitary neoplasms. Some
Hypothalamic disorders (hyperphagia): of these tumours may cause headaches and visual disturbances.
craniopharyngiomas
It is also important not to overlook major organ failure and kidney disorders as a cause Page 809
optic gliomas
of increased body weight, especially cardiac failure, liver failure and the nephrotic
Liver failure syndrome. The associated increase in body water needs to be distinguished from increased body
Nephrotic syndrome fat. Consider the obesity hypoventilation syndrome (Pickwickian syndrome) in those with BMI
>40 kg/m2.
Pitfalls (often missed)
Pregnancy (early)
Endocrine disorders:
Pitfalls
hypothyroidism Endocrine disorders
Cushing syndrome
insulinoma The endocrine disorders that cause obesity include Cushing syndrome, hypothyroidism, insulin-
acromegaly secreting tumours and hypogonadism. They should not represent difficult diagnostic problems.
hypogonadism An insulin-secreting tumour (insulinoma) is a very rare adenoma of the B cells of the islets of
hyperprolactinaemia Langerhans. The main features are symptoms of hypoglycaemia and obesity.
polycystic ovarian syndrome
Idiopathic oedema syndrome Congenital disorders
Klinefelter syndrome
The rare congenital disorders that cause obesity, such as Prader–Willi and Laurence–Moon–
Congenital disorders: Bardet–Biedl syndromes, should be easy to recognise in children (see CHAPTER 23 and later in
Prader–Willi syndrome this chapter).
Laurence–Moon–Bardet–Biedl syndrome
Chromosomal abnormalities
Seven masquerades checklist
Depression An important abnormality to bear in mind is Klinefelter syndrome (XXY karyotype), which
Drugs affects one out of every 400–500 males. The boys show excessive growth of long bones and are
tall and slim. Without testosterone treatment they become obese as adults.
Thyroid disorder (hypothyroidism)
Is the patient trying to tell me something? Some girls with Turner syndrome (XO karyotype) may be short and overweight.
Yes: the reasons for obesity should be explored.
Some gender pointers
Consider polycystic ovarian syndrome in women and obstructive sleep apnoea in obese men.
Seven masquerades checklist
The important masquerades include hypothyroidism and drug ingestion. Hypothyroidism is
usually not associated with marked obesity. Drugs that can be an important contributing factor
include tricyclic (and other) antidepressants, corticosteroids, pizotifen, the antipsychotics, depot
progesterone and insulin. Obesity (overeating) may be a feature of depression, especially in the
early stages.
Psychogenic considerations
An underlying emotional crisis may be the reason for the overweight person to seek medical
advice. It is important to explore diplomatically any hidden agenda and help them to resolve any
conflict.
The clinical approach
A careful history is very valuable in ascertaining food and beverage intake and perhaps giving
people insight into their calorie intake, since some deny overeating or will underestimate their
food intake.3 Enquire about gynaecological and family history, e.g. diabetes, cardiac disease.
Relevant questions
Do you feel that you have an excessive appetite?
Tell me in detail what you ate yesterday.
Give me an outline of a typical daily meal.
Tell me about snacks, soft drink and alcohol that you have.
What exercise do you get?
Do you have any special problems, such as getting bored, tense and upset or depressed?
What drugs are you taking?
Examination
In the physical examination it is very important to measure body weight and height (and
calculate BMI), waist circumference and assess the degree and distribution of body fat and the
overall nutritional status. For a discussion of anthropometric measurements and their
interpretation, see CHAPTER 80 . Record blood pressure and test the urine with dipsticks. Keep
in mind that a standard blood pressure cuff on a large arm may give falsely elevated values.
Remember the rare possibilities of Cushing syndrome, acromegaly and hypothyroidism. Search
for evidence of atherosclerosis and diabetes, and for signs of alcohol abuse.
An extensive working up of the CNS is not indicated in obesity without the presence of
suspicious symptoms such as visual difficulties.
Important investigations
Lipid profile
Glucose (fasting) and/or HbA1c if significant weight gain
EUC, LFTs
Investigations to consider
Thyroid function tests
Cortisol (if hypertensive)
Testosterone (suspected sleep apnoea)
ECG and chest X-ray (older than 40)
Weight gain in children
Various studies have found that approximately 10% of prepubertal and 15% of adolescent age
groups are obese.4
Obesity in children is a BMI for age >95th percentile while overweight is >85th Page 810
percentile. There is a risk of obesity-associated diseases and carrying the problem into
adulthood, with a greater risk of obesity, premature death and disability.
Raising the issue with parents and child requires sensitivity and discretion. Parents often blame
obesity in children on their ‘glands’, but endocrine or metabolic causes are rare and can be
readily differentiated from exogenous obesity by a simple physical examination and an
assessment of linear growth. Children with exogenous obesity tend to have an accelerated linear
growth whereas children with secondary causes are usually short.
Congenital or inherited disorders
Prader–Willi syndrome
The characteristic features are bizarre eating habits (e.g. binge eating), obesity, hypotonia,
hypogonadism, intellectual disability, small hands and feet and a characteristic facial appearance
(narrow bifrontal diameter, ‘almond-shaped’ eyes and a ‘tented’ upper lip). Progressive obesity
results from excessive intake in addition to decreased caloric requirements (see CHAPTER 23 ). quoted configuration of a lemon with matchsticks (see CHAPTER 14 ).

Laurence–Moon–Bardet–Biedl syndrome Clinical features

The characteristic features are obesity, intellectual disability, polydactyly and syndactyly, Change in appearance
retinitis pigmentosa and hypogonadism.
Central weight gain (truncal obesity)
Beckwith–Wiedemann syndrome
Hair growth and acne in females
Characteristics include excessive growth, macrosomia, macroglossia, umbilical hernia and
neonatal hypoglycaemia. Children appear obese as they are above the 95th percentile by 18 Muscle weakness
months of age. Intelligence is usually in the normal range.
Amenorrhoea/oligomenorrhoea (females)

Endocrine disorders Thin skin/spontaneous bruising

Endocrine disorders in children that can rarely cause obesity include hypothyroidism (often Polymyalgia/polydipsia (diabetes mellitus)
blamed as the cause but seldom is), Cushing syndrome, insulinomas, hypothalamic lesions,
Fröhlich syndrome (adiposogenital dystrophy) and Stein–Leventhal syndrome (PCOS) in girls. Insomnia

Depression
Managing obesity in children
Signs
Childhood obesity usually reflects an underlying problem in the family system. It can be a very
difficult emotional problem in adolescents, who develop a poor body image. An important Moon face
strategy is to meet with family members, determine whether they perceive the child’s obesity as
a problem and whether they are prepared to solve the problem. The family dynamics will have to ‘Buffalo hump’
be assessed and strategies outlined. This may involve referral for expert counselling. It is worth
pointing out that children eat between one-third and two-thirds of their meals at school, so Purple striae
schools should be approached to promote special programs for children who need weight
reduction. Large trunk and thin limbs: the ‘lemon with matchsticks’ sign

Conventional therapy by dietary modification, increasing energy expenditure by increasing
activity, reducing sedentary behaviour, behaviour modification and family involvement is
recommended (see CHAPTER 80 ). The best outcomes are achieved with a specialist team
working with the whole family.5 Some authorities emphasise that weight maintenance rather than
weight loss is appropriate since many children will ‘grow into their weight’.6
Refer for diagnostic evaluation, including plasma cortisol and overnight dexamethasone
suppression tests.
Untreated Cushing syndrome has a very poor prognosis, with premature death from myocardial
infarction, cardiac failure and infection; hence, early diagnosis and referral is essential.

Weight gain in adults Oedema

Oedema (dropsy) is an excessive accumulation of fluid in tissue spaces. It may be Page 811
Cushing syndrome generalised or localised—peri-orbital, peripheral or an arm (lymphoedema, refer to
CHAPTER 58 ).
Cushing syndrome is the term used to describe the chemical features of increased free circulating
glucocorticoid. The most common cause is iatrogenic with the prescribing of synthetic
corticosteroids. The spontaneous primary forms such as Cushing disease (pituitary-dependent
Generalised oedema
hyperadrenalism) are rare. As the disorder progresses the body contour tends to assume the often
The site of generalised oedema is largely determined by gravity. It is due to an abnormal excess
of sodium in the body, which leads to accumulation of water. The causes can be generally excessive diurnal weight gain (worse on prolonged standing)
divided into two groups—oedema associated with a decreased plasma volume and oedema
associated with an increased plasma volume (see TABLE 67.2 ). abdominal bloating

may affect hands and face as well as feet

Table 67.2 Causes of generalised oedema
often made worse by diuretics

Decreased plasma volume may be associated with headache, depression, tension

Hypoalbuminaemia (e.g. nephrotic syndrome, chronic liver disease, malnutrition)
Treatment of this condition is difficult. Most diuretics can aggravate the problem. Supportive
Increased plasma volume stockings and a nutritious diet (with restricted sodium intake) are recommended as first-line
Congestive cardiac failure treatment. A trial of spironolactone is often recommended.
Chronic kidney failure
Drugs (e.g. corticosteroids, NSAIDs, certain antihypertensives, oestrogens, lithium, Swelling (puffiness) of the face and eyelids
others)
The causes are similar to those for generalised oedema. Important specific causes to consider are:
Idiopathic oedema
kidney disease (e.g. nephrotic syndrome, acute nephritis)

Diagnosis hypothyroidism

Clinical examination, including urinalysis, is usually sufficient to establish the cause of the Cushing syndrome and corticosteroid treatment
oedema. In other cases, investigation of kidney or liver function may be required. mediastinal obstruction/superior vena cava syndrome
Treatment angio-oedema
Treat the cause where known skin sensitivity (e.g. drugs, cosmetics, hair dryers)
Salt (sodium) restriction carotico-cavernous fistula
Diuretics:
Swelling of the legs
a loop diuretic (e.g. frusemide)
Refer to CHAPTER 58 .
a potassium-sparing diuretic (e.g. spironolactone)
‘Cellulite’
Idiopathic oedema
‘Cellulite’ refers to a characteristic form of dimpling seen in the subcutaneous tissues of hips,
Idiopathic oedema, also known as cyclical or periodic oedema, is a common problem and the buttocks and thighs of females. The dimpling pattern is related to the manner of attachment of
diagnosis is made on a characteristic history: fibrous septae that contain the fat. Many patients seek advice about ‘cellulite’ in the buttocks and
thighs in particular. Explain that the best way to overcome it is to maintain an ideal weight. If
exclusive to women overweight, lose it slowly and exercise to improve the muscle tone in the buttocks and thighs.

may be cyclical or persistent

Weight loss
usually unrelated to menstrual cycle
In family practice complaints of loss of weight are more frequent than complaints about being Stress and anxiety (e.g. redundancy, relationship breakdown)
too thin. Of great significance is the problem of recent loss of weight. A very analytical history is Depressive illness
required to determine the patient’s perception of weight loss. The equivalent problem in children
Non-coping elderly/dementia
is failure to gain weight or thrive.
Eating disorders: anorexia nervosa/bulimia
Weight loss is an important symptom because it usually implies a serious underlying disorder,
Chronic congestive heart failure
either organic or functional. It may or may not be associated with anorexia and thus diminished
food intake. Malignant disease, including:
stomach
Page 812 pancreas
lung
Key facts and checkpoints myeloma
caecum
Any loss of more than 5% of normal body weight is significant. lymphoma
Chronic infection:
The most common cause in adults of recent weight loss is stress and anxiety.7
HIV infections (AIDS, AIRC)
Serious organic diseases to consider are: tuberculosis
hidden abscess
malignant disease infective endocarditis
diabetes brucellosis
others, e.g. overseas acquired infection
chronic infections (e.g. tuberculosis)
Pitfalls (often missed)
thyrotoxicosis Drug dependence, esp. alcohol
The most important variable to consider in evaluating weight loss is appetite. Eating Malabsorption states:
and weight go hand in glove. intestinal parasites/infestations
coeliac disease
Two conditions commonly associated with weight loss are anaemia and fever; they
Other GIT problems
must be excluded.
Chronic kidney failure
Early detection of eating disorders improves outcome. Connective tissue disorders (e.g. SLE, RA)
Dementia
Rarities:
A diagnostic approach malnutrition
Addison disease
A summary of the diagnostic strategy model is presented in TABLE 67.3 . hypopituitarism
Seven masquerades checklist
Table 67.3 Weight loss: diagnostic strategy model (other Depression
than deliberate dieting or malnutrition) Diabetes
Drugs
Probability diagnosis Anaemia
 Thyroid disorder (hyperthyroidism)
UTI
Is the patient trying to tell me something?
A possibility. Consider stress, anxiety and depression.
Anorexia nervosa and bulimia are special considerations.
Probability diagnosis
Excluding planned dietary restriction, psychological factors are the most common cause,
particularly recent stress and anxiety.7 Elderly people with adverse psychological factors, neglect
and possibly drug effects can present with wasting.
Serious disorders not to be missed
Many of the problems causing weight loss are very serious, especially malignant disease.
Malignant disease
Weight loss may be a manifestation of any malignancy. With cancer of the stomach, pancreas
and caecum, malignant lymphomas and myeloma, weight loss may be the only symptom. Occult
malignancy must be regarded as the most common cause of unexplained weight loss in the
absence of major symptoms and signs. The mechanisms may be multiple, with anorexia and
increased metabolism being important factors.
Chronic infections
These are now less common but tuberculosis must be considered, especially in people from less
developed countries. Some cases of infective endocarditis may progress only very slowly with
general debility, weight loss and fever as major features.8
Other infections to consider are brucellosis, and protozoal and systemic fungal infection.
Infection with HIV virus must be considered, especially in high-risk groups.
Pitfalls
Drug dependency, including alcohol and narcotic drugs, must be considered, especially Page 813
when the problem may result in inappropriate nutrition. Apart from malignant disease there is a
whole variety of gastrointestinal disorders that require consideration—these include
malabsorption states, gastric ulceration, and intestinal infestations, especially in people returning
from a significant stay in tropical and under-developed countries.
Addison disease (see CHAPTER 14 ) can be very difficult to diagnose. Symptoms include
excessive fatigue, anorexia, nausea and postural dizziness. Hyperpigmentation is a late sign.
Seven masquerades checklist
Depression and the endocrine disorders---diabetes and hyperthyroidism---are important causes.
Diabetes
Unintended weight loss is a particular issue with type 1 diabetes; always be aware of the
dangerous ketoacidosis as a first presentation. The triad is thirst + polyuria + weight loss.
Hyperthyroidism
This is usually associated with weight loss although in some, such as an elderly male, it may not
be obvious. An important clue will be weight loss in the presence of an excellent appetite, which
helps distinguish it from a psychoneurotic disturbance.
Depression
Weight loss is a common feature of depression and is usually proportional to the severity of the
disease. In the early stages of depression, weight gain may be present but when the classic loss of
the four basic drives (appetite, energy, sleep and sex) becomes manifest, weight loss is a feature.
Drugs
Any prescribed drugs causing anorexia can cause weight loss. Important drugs include digoxin,
narcotics, cytotoxics, NSAIDs, some antihypertensives and theophylline. Be mindful of
inappropriate use of thyroxine and laxatives.
Red flag pointers for weight loss
Weight loss per se is a big red flag.
Rapid weight loss with malaise
Acid dental erosion on surfaces of upper teeth: think bulimia
Weakness and malaise in young females: consider eating disorder and
hypokalaemia
Evidence of abuse in a child
Psychogenic considerations
Weight loss is a feature of anxiety as well as depression. Some patients with psychotic General questions
disturbances, including schizophrenia and mania, may present with weight loss.
Exactly how much weight have you lost and over how long?
Anorexia nervosa is quite common, particularly in females between the ages of 12 and 20 years.
The main differential diagnosis is hypopituitarism, although anorexia nervosa can cause Have you changed your diet in any way?
endocrine disturbances through the hypothalamic pituitary axis.
Has your appetite changed? Do you feel like eating?
The clinical approach Have your clothes become looser?

What is your general health like?

History
Do you feel uptight (tense), worried or anxious?
It is important to document the weight loss carefully and evaluate the patient’s recordings. The
same set of scales should be used. It is also important to determine the food intake. However, in Do you get very irritable or tremulous?
the absence of an independent witness such as a spouse or parent, this can be difficult. Food
intake may be diminished with psychogenic disorders and cancer but increased or steady with Do you feel depressed?
endocrine disorders, such as diabetes and hyperthyroidism, and with steatorrhoea. FIGURE 67.1
shows the possible causes of weight loss. Do you ever force yourself to vomit?

Are you thirsty?

Do you pass a lot of urine?

Do you have excessive sweating?

Do you experience a lot of night sweats?

What are your motions like?

Are they difficult to flush down the toilet?

Do you have a cough or bring up sputum?

Do you get short of breath?

Do you have any abdominal pain?

Are your periods normal (for females)?

What drugs are you taking?

How many cigarettes do you smoke?

Examination
A careful general examination is essential with special attention to: Page 814

FIGURE 67.1 Weight loss: causes to consider

vital parameters, e.g. BMI, temperature, BP
 the thyroid and signs of hyperthyroidism 1. failure to thrive (FTT): the child up to 2 years below 3rd percentile (refer to CHAPTER 84 )

the abdomen (check liver, any masses and tenderness) 2. weight loss in a child after normal development

rectal examination (test stool for occult blood)

Loss of weight in the older child
reflexes Page 815
Acute or chronic infections are the most common causes of weight loss in children
look for acid dental erosion on surface of upper teeth (bulimia) beyond infancy.9 In acute infections the weight loss is transient, and once the infection clears the
child generally regains the lost weight. In chronic infections signs may be more difficult to detect
(e.g. urinary tract infection, pulmonary infection, osteomyelitis, chronic hepatitis). In common
Investigations with the younger child who fails to thrive, the older child may be suffering from malabsorption
Basic investigations include: syndrome, chronic infection of the urinary tract or a rare chromosomal or metabolic disorder.10
Tuberculosis, diabetes and malignant disease may present as weight loss and it is necessary to
haemoglobin, red cell indices and film exclude organic disease before considering the more common emotional disorders.

white cell count Eating disorders in the adolescent

ESR/CRP
Concerns about body image and dieting are very common among young women in modern
thyroid function test society, and to an increasing extent in young men. Among these dieters 5–10% become
abnormally preoccupied with dieting and slimness and progress to the eating disorders of
random blood sugar anorexia nervosa and bulimia. They often have extremely low self-esteem and feel ineffective.
They tend to be perfectionists with obsessive–compulsive traits. A history of childhood sexual
EUC, LFTs abuse may be relevant. Media images alone do not cause eating disorders but have a role—
genetic vulnerability, temperament, psychological and environmental factors also mediate these
chest X-ray illnesses: ‘Genes load the gun—the environment pulls the trigger’.
urine analysis The DSM-5 criteria for diagnosing these disorders, which have serious physical and
psychological consequences, are presented in TABLE 67.4 . The differential diagnosis of
faecal occult blood
anorexia nervosa includes most of the problems listed in TABLE 67.4.
Others to consider:

upper GIT (endoscopy or barium meal) Table 67.4 DSM-5 criteria for diagnosing anorexia nervosa and bulimia

HIV serology
Anorexia nervosa
ultrasound of abdomen (or CT if suspected abnormality not found) A Restriction of energy intake relative to requirements leading to significantly
low body weight in context of age, sex and physical health. That weight is
colonoscopy less than minimally normal or expected
tumour markers, e.g. CA-125, CEA B Intense fear of gaining weight or becoming fat, despite current underweight
status

Weight loss in children C Disturbance of body image (body size or shape) or persistent lack of
recognition of seriousness of low body weight
Weight loss in children can be considered as: Types Restricting type—no binge eating or purging binge eating/purging type
 Bulimia nervosa
A Recurrent episodes of binge eating, that is:
1. eating in a discrete period of time an abnormal quantity of food
compared with the average person
2. a sense of lack of control during the binge
B Recurrent inappropriate compensatory behaviour to prevent weight gain
(e.g. self-induced vomiting; misuse of laxatives, diuretics, enemas etc.);
fasting or excessive exercise
C A and B both occur, on average, at least twice a week for 3 months
D Self-evaluation is unduly influenced by body shape and weight
E Does not occur exclusively during periods of anorexia nervosa
Types Purging, non-purging (e.g. fasting, excessive exercise)

The history11
These patients are often secretive, tend to minimise their symptoms and may be in denial of their
problem. GPs are encouraged to engage these patients and keep in close contact with them,
referring them as necessary. The validated screening tool SCOFF is recommended.

The SCOFF screening tool

FIGURE 67.2 18-year-old adolescent with severe anorexia nervosa (BMI 7.7).
This patient survived after care by her GP.
S Do you make yourself Sick because you feel uncomfortably full?
C Do you worry you have lost Control over how much you eat? Photo and history courtesy Dr MM O’Brien

O Have you recently lost more than 6 kg (One stone) in a 3-month period?
F Do you believe yourself to be Fat when others say you are too thin?
F Would you say Food dominates your life?
If the patient answers Yes to two or more questions, there is a high index of suspicion for an eating disorder, warranting a more detailed
assessment.
Anorexia nervosa is a syndrome characterised by the obsessive pursuit of thinness Page 816
12
through dieting with extreme weight loss and disturbance of body image. The main
symptoms are anorexia and weight loss. The mortality rate may be as high as 18%. It has the
highest mortality and suicide rate of any psychiatric disorder.11

Typical features
Anorexia nervosa Up to 1% incidence among schoolgirls aged 1613

See FIGURE 67.2. Bimodal age of onset: 13–14 and 17–18 years11

Unknown cause

Poor insight

Severe emaciation
 Amenorrhoea tests, coeliac disease screening and LFTs, ESR.

Loss of body fat

Avoidant/restrictive food intake disorder
Sallow, dry and scaly skin, hair loss
Previously known as ‘selective eating disorder’, this is an eating disorder whereby people eat
Increased lanugo body hair only within a very narrow repertoire of foods. These people may appear healthy but can also
present with weight loss, growth failure or nutritional deficiency.14
BMI <17.5
Note: The other main eating disorder is ‘binge eating disorder’, which is defined as recurrent
Continuing behaviour directed at weight loss episodes of binge eating in the absence of regular use of inappropriate compensatory behaviours
characteristic of bulimia nervosa. Most people who binge eat are obese.
Bulimia nervosa
Management of eating disorders
Bulimia is episodic secretive binge eating followed by self-induced vomiting, fasting or the use
of laxatives or diuretics. This binge–purge syndrome is also referred to as bulimarexia. It is more
Early detection and intervention are essential to reduce the risk of chronicity. Treatment Page 817
difficult to detect than anorexia nervosa but has a higher incidence. There are two types—the can be conducted on an outpatient basis but if there are marked trends, such as severe weight
purging type and the non-purging type where fasting or excessive exercise are the compensatory loss, a family crisis, severe depression and a suicide risk, the person requires hospital admission.
behaviours. The purging type is the most life-threatening behaviour because of the danger of The burden on caregivers of people with eating disorders is high. There are often problematic
hypokalaemia. family interrelationships that require exploration.
Typical features11 Important goals are:

Young females (F:M ratio 10:1) establish a good and caring relationship with the patient

Begins at later age, usually 17–25 years resolve underlying psychological difficulties

Associated psychoneurotic disorders restore weight to a level between ideal and the patient’s concept of optimal weight

Family history
Fluctuations in body weight without extreme loss or gain
Menstrual history usually normal but periods may be irregular—amenorrhoea rare
Physical complications of frequent vomiting (e.g. dental decay, effects of hypokalaemia)
Recurrent laxative, stimulant or enema abuse
Preoccupation with food
provide a balanced diet of at least 3000 calories per day (anorexia nervosa)
Structured behavioural therapy, intensive psychotherapy and family therapy may be tried but
supportive care by physicians and allied health staff appears to be the most important feature of
therapy.15 Psychotherapy may be arranged by referral to a psychologist or psychiatrist. The
patient may need admission to hospital, especially if dehydration and hypokalaemia (from
purging) and also suicide are concerns. Rapid weight loss, vomiting, especially with poor insight,
are also ‘red flags’ for hospital admission. Antidepressants, especially of the SSRI group, may be
helpful for selected patients with a comorbid depressive illness. Fluoxetine is the preferred agent
for bulimia. It is important to provide ongoing support for both patient and family.

Exaggerated weight/body shape concern Weight loss in the elderly

Impulse control disorders (e.g. gambling, substance abuse)
Depressed mood with guilt after a binge
Laboratory evaluation should include electrolytes, FBE, iron studies, TFTs, kidney function
General weight loss is a relatively common physiological feature of many elderly people.
However, abnormal weight loss is commonly encountered in the socially disadvantaged elderly,
especially those who live alone and lack drive and interest in adequate food preparation. Other
factors include relative poverty and poor dentition, including ill-fitting and painful false teeth. An
important cause that should always be considered is malignant disease. Consider depression,
dementia and drug interactions as potential causes of weight loss. Depression is the most
common reversible cause of weight loss in elderly people, occurring in up to 30% of all medical
outpatients presenting with undernutrition.15 Weight loss of more than 5% body weight in 6
months is significant and suggests undernutrition.15
Congestive cardiac failure, especially secondary to ischaemic heart disease, is a common cause
of weight loss. This is due to visceral congestion.
who require relatively rapid weight reduction.
Possibility of endocrine or congenital cause of weight gain or loss.
Any unexplained weight loss, especially if an endocrine cause or malignancy is suspected and
can’t be identified.
Weight loss related to a serious psychological illness or eating disorder.

Gastrointestinal causes of weight loss Practice tips

The following conditions may lead to weight loss: Ask patients what they really believe is the cause of their weight gain or loss.

coeliac disease An anxiety state and hyperthyroidism can be difficult to differentiate as causes of
weight loss. Perform thyroid function tests.
poor oral hygiene
Laboratory tests are rarely needed to establish the diagnosis of an eating
chronic vomiting or diarrhoea (e.g. pyloric stenosis) disorder. Hormonal levels return to normal following weight gain.

gastric ulcer A high index of suspicion by the family doctor is required to diagnose eating
disorders. Think of it in a mid-teen female; weight loss through dieting; wide
cancer of the stomach, oesophagus, large bowel fluctuation in weight; amenorrhoea and hyperactivity.

problem alcohol drinking

partial or total gastrectomy Patient education resources

other GIT surgery
Hand-out sheets from Murtagh’s Patient Education 8th edition: Page 818

inflammatory bowel disease (e.g. Crohn disease, ulcerative colitis)

Eating disorders
steatorrhoea
Obesity: how to lose weight wisely
lymphoma of the gut
BMI calculator
parasitic infestation

cirrhosis of the liver

Resources
The mechanisms of weight loss include anorexia, malabsorption, obstruction with vomiting and NHMRC Obesity guidelines. Available from:
inflammation. www.health.gov.au/internet/main/publishing.nsf/Content/obesityguidelines-index.htm.

RACGP Red book: the 5 As approach. Available from: www.racgp.org.au/your-

When to refer practice/guidelines/snap/2-approach-to-preventive-care-in-general-practice/21-the-5as/.

Those with BMI >35 who are resistant to simple weight control measures.5 WHO MONICA project. MONICA Monograph and Multimedia Sourcebook. Geneva: WHO,
2003.
Those with obesity and associated medical problems such as angina or severe osteoarthritis
References Page 819

1 Funder J. Weighing it up. RACGP: Good Practice, 2014; 4: 13.

2 Papdakis MA, McPhee SJ. Current Medical Diagnosis and Treatment (52nd edn). New
York: McGraw-Hill Lange, 2013: 1259.

3 Caterson ID. Weight management. Australian Prescriber, 2006; 29: 43–7.

4 Tunnessen WW Jr. Signs and Symptoms in Paediatrics (2nd edn). Philadelphia: JB

Lippincott, 1988: 33–41.

5 Cardiovascular [published 2018]. In: Therapeutic Guidelines [digital]. Melbourne:

Therapeutic Guidelines Limited. Available from: www.tg.org.au, accessed October 2019.

6 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines

Handbook Pty Ltd, 2018: 547.

7 Hopcroft K, Forte V. Symptom Sorter (4th edn). Oxford: Radcliffe Publishing, 2010: 226–
7.

8 Beck ER, Francis JL, Souhami RL. Tutorials in Differential Diagnosis (2nd edn).
Edinburgh: Churchill Livingstone, 1988: 117–20.

9 Tunnessen WW. Symptoms and Signs in Paediatrics (2nd edn). Philadelphia: Lippincott,
1988: 25–8.

10 Robinson MJ, Roberton DM. Practical Paediatrics (5th edn). Melbourne: Churchill
Livingstone, 2003: 140–4.

11 Redston S et al. ‘Help us, she’s fading away’. How to manage the patient with anorexia
nervosa. Aust Fam Phys, 2014; 43 (8): 531–6.

12 Young D. Eating disorders. In: Jones R et al, Oxford Textbook of Primary Medical Care.
Oxford: Oxford University Press, 2004: 972–5.

13 Smink FR et al. Epidemiology, course and outcome of eating disorders. Curr Opin
Psychiatry, 2013; 26(6): 543–8.

14 Fisher MM et al. Characteristics of avoidant/restrictive food intake disorder in children

and adolescents: a ‘new disorder’ in DSM-5. J Adolesc Health, 2014; 55(1): 49–52.

15 Papadakis MA, McPhee SJ. Current Medical Diagnosis and Treatment. New York:
McGraw-Hill Lange, 2013: 1262.
 persistent depressive episode
Part 4 Mental health disruptive mood regulation, e.g. temper tantrums
premenstrual dysphoric disorder
Page 820 depressive disorder due to another medical condition
substance-induced mood disorder
other specified or non-specified disorder
Bipolar and related disorders:

68 Depression and other mood bipolar 1 disorder

bipolar 2 disorder
disorders cyclothymic disorder

The DSM-5 classification1 divides depressive disorders into major depressive

disorder (MDD), disruptive mood dysregulation disorder, persistent depressive
Though I am often in the depths of misery, there is still calmness, pure harmony and music inside disorder (PDD) and premenstrual dysphoric disorder. Other ‘specified’ and
me. I see paintings or drawings in the poorest cottages and the dirtiest corners. And my mind is ‘unspecified’ disorder categories allow for diagnosis of those patients who fall
driven towards these things with an irresistible momentum. short of the various diagnostic criteria.2 Refer to CHAPTER 10 on depression.3

MDD is subclassified with coded course or severity specifiers. These include

VINCENT VAN GOGH, BIPOLAR SUFFERER (1853–1890)
A mood disorder, also referred to as an affective disorder, is an emotional condition that
significantly impacts on a person’s mood and related functions. The combination of involved
symptoms leads to a predominant mood state that is abnormal in quality, duration or both.
Classification:
A classification of the types of mood disorders is presented in TABLE 68.1 . There
are two basic groups ranging from the very low mood of depression to the elevated
mood of mania.
mild, moderate or severe (see TABLE 68.2 )—with psychotic features, in partial
remission and in full remission.
Non-coded specifiers can also be used, including ‘with anxious distress’, ‘with
mixed features’, ‘with melancholic features’, ‘with atypical features’, ‘with mood-
congruent psychotic features’, ‘with catatonia’, ‘with peripartum onset’ and ‘with
seasonal pattern’.
Table 68.2 Classification of severity of depressive illness, based on clinical
features

Symptom
Table 68.1 Classification of mood disorders DSM-5 Mild Moderate Severe
cluster
Mood Lowered Reduced No interest in
Mood disorders: mood interest in things
Reduced joy things No pleasure in
major depressive illness
Crying Reduced things
hypomanic episode Anxiety pleasure in No reactivity
manic episode Irritability things
Depressive disorders: Reduced
reactivity
major depressive disorder
 Depressive Loss of Pessimistic Hopeless, see no Depressive disorders
thought confidence about the future future, self-
Feeling reproach, guilt,
worthless or a shame Major depressive episode
failure Consider illness a
Paranoid ideas punishment Major depressive episode (MDE) or unipolar depression which manifests with at least five of the
Paranoid or features described in the DSM-5 diagnostic criteria (see CHAPTER 10 where the clinical
nihilistic delusions features and management of depression is covered in more detail).
Cognition Minor Indecisiveness Unable to make
forgetfulness Forgetfulness decisions Major depressive disorder (MDD)
or lack of Slowed Page 821
concentration mentation, seems Major depressive disorder (MDD) or unipolar depression is also referred to as major
cognitively depression or clinical depression. It manifests as the presence of a single major depressive
impaired episode without a manic or psychotic presentation at any one point in time. The two key criteria
(pseudodementia) for MDD in the DSM-5 are a pervasive depressed mood and marked loss of interest or pleasure
(otherwise referred to as anhedonia) persisting for at least two weeks along with other criteria
Somatic Low drive Low energy, No energy, drive (see CHAPTER 10 ).
Loss of drive Unable to eat;
interest in Eat with severe weight
food encouragement; loss Major depression with psychotic features
Lowered mild weight loss No libido
libido Loss of libido Psychomotor Major depression with psychotic features, where there is both psychotic and depressive features
Mild initial Initial insomnia; retardation or at one point in time.
insomnia; wake several agitation
wake 1–2 times a night Sleep only a few Adjustment disorder with depressed mood
times a night hours
Adjustment disorder with depressed mood is a period of distress and emotional disturbance
Social Mild social Apathy and Apathy and social following a significant stressful life event (reactive depression, e.g. loss of employment). It is a
withdrawal social withdrawal
less severe form of depression without sufficient criteria for major depression, and is very
withdrawal Marked work common. The symptoms may resolve spontaneously or benefit from short-term counselling. Its
Work impairment
duration is usually no longer than 6 months. There is no evidence that antidepressants are
impairment Poor self-care helpful.
Suicidality Life not Thoughts of Evidence of intent
enjoyable, death or suicide to suicide (plans, Melancholic depression (melancholia)
not worth attempts, etc.)
living This is basically general MDD but is a more severe form where symptoms such as anhedonia and
psychomotor retardation are prominent. The term is not currently used often by psychiatrists and
other therapists.
In a general practice setting, having a checklist of symptoms to work through with a patient can
be a useful part of the assessment of the depressed patient. However, the DSM criteria can be too
rigid for general practice, with many patients whom GPs recognise as having psychological
Recurrent brief depression
issues not meeting DSM-5 criteria.4 As Ian Hickie explains, ‘Primary care psychiatry is not There is a high prevalence in general practice of patients with recurrent episodes of short
specialist psychiatry in general practice’.5 duration, about 3 to 7 days, as often as monthly. Premenstrual dysphoria may be a factor. As a
rule antidepressants are ineffective. Lithium is an alternative medication for long-term use.
Types of mood disorders Management is based on psychotherapy, especially CBT.
 Bereavement
This is a reactive depression to the death of a loved one. The expression and duration Page 822
vary considerably among cultural groups. The diagnosis of MDD is usually not given until
symptoms are present for 2 months after the loss. See CHAPTER 4 .
Perinatal depression
This term recognises depressive symptoms throughout pregnancy and in the postnatal phase,
where the disorder ranges from normal ‘baby blues’ to postnatal adjustment disorder, and finally
to the severe postnatal (or postpartum) depression. It affects about 10–20% of mothers.
Postnatal blues
The ‘blues’ are a very common problem occurring in up to 80% of women that arises in the first
2 weeks (usually 3–10 days after childbirth) but lasts only about 4–14 days. Clinical features are
feeling flat or depressed, mood swings, irritability, feeling emotional (e.g. crying easily) and
inadequate, and lacking confidence.
Postnatal adjustment disorder
Occurs in the first 6 months; similar symptoms to the ‘blues’; anxiety with handling baby;
psychosomatic complaints; fearful of criticism.
Postnatal depression
Some women develop a very severe depression after childbirth. Always consider it in the
frequent attender. Symptoms are present for at least 2 consecutive weeks, with onset in the first
few days postpartum.
This occurs in 10–30% of women in the first 6–12 months (usually first 6 months, peaks about
12th week); anxiety and agitation common; marked mood swings; poor memory and
concentration; typical features of depression.
Note: Beware of puerperal psychosis with onset usually within the first 2 weeks.
Postpartum psychosis
The most common postpartum psychosis is an affective disorder: mania or agitation depression.
It demands urgent attention. Symptoms that appear within the first month include unusual
behaviour, agitation, delirium, hallucinations, mania and suicidal ideation. It is rare, occurring in
about 1:500 births.
Dysthymic disorder or persistent depressive disorder
(PDD)
Refers to longstanding chronic depressed mood of relatively mild severity for at least 2 years.
The depressed mood is accompanied by two or more of the symptoms outlined in the DSM-5
criteria. Antidepressants are less predictably effective than in major depression. Note: Included
in DSM-5.
Double depression
This is defined as a moderate depressed mood (dysthymia) that lasts for at least 2 years.6
Disruptive mood dysregulation disorder
This is a depressive disorder of children up to 18 years of age who exhibit persistent irritability
and frequent episodes of extreme behavioural control and uncontrollable social behaviour
without any significant provocation. Note: Included in DSM-5.
Premenstrual dysphoric disorder
This diagnosis is based on the presence of a cluster of affective behavioural and emotional
symptoms in the week preceding the onset of menstruation, followed by the resolution of these
symptoms after onset. The symptoms must include at least five depressive symptoms (see
CHAPTER 10 ). Note: Included in DSM-5.
Dysphoria
This is a profound state of unease or generalised dissatisfaction with life (as opposed to
euphoria). It may accompany depression, anxiety, physical discomfort, menstruation or
unhappiness with one’s biological sex or usual gender role (gender dysphonia).
Atypical depression
This is different to the persistent sadness of typical depression, where the individual’s mood
improves with a pleasurable event.
Catatonic depression
An uncommon and severe form of major depressive episode involving disturbance of motor
behaviour where the person is mute and has severe psychomotor retardation with purposeless or
bizarre movements. Grimacing, echolalia and echopraxia may feature. Catatonic symptoms can
also appear in schizophrenia or a manic episode.
Seasonal affective disorder
Seasonal affective disorder (SAD), or ‘winter blues’ or winter depression, is a recurrent Page 823
depressive disorder seen in people living in cold climates where winters are bleak and
dark. It appears in the autumn or winter and usually resolves in spring. The diagnosis is based on
at least two episodes occurring in colder months and none at other times over a 2-year period or
longer. Features of depression include sleeping difficulty, sadness, lethargy, irritability and
anxiety, while atypical symptoms include somnolence and increased appetite (carbohydrate
craving). Treatment is based on psychotherapy, phototherapy and medication such as the SSRIs.
Refer to: www.sada.org.uk.
Bipolar disorders
Bipolar is a broad term to describe a recurrent illness with episodes of either abnormal high
mood (mania) or low mood (depression), with return to normal function in between. The swing
in moods in bipolar disorders (formerly manic depression disorders) is illustrated in
FIGURE 68.1 . It affects 1–2% of the population, while BP-NOS may affect between 2–5%
(refer to CHAPTER 69 for features and management).
FIGURE 68.1 Bipolar disorder (manic depression): possible mood swings
Bipolar I disorder
Bipolar I disorder has one fully fledged manic or mixed episode and usually depressive episodes.
Bipolar II disorder
Bipolar II disorder is defined as a major depressive episode with at least one hypomanic episode
lasting a minimum of 4 days but no classic manic episodes.
Hypomania
Hypomania is the term used to describe the symptoms of mania that are similar to but less severe
(without criterion C) and of shortened duration. The subsequent major depressive (cyclothymic)
phase is associated with a high risk of suicide.
Cyclothymic disorder
Cyclothymic disorder is a form of bipolar disorder consisting of recurrent hypomanic and
dysthymic episodes without full manic or major depressive episodes.
Dysphoric mania
Dysphoric mania or mixed episode during manic episodes patients may also experience
depressive symptoms.3
Rapid cyclic bipolar disorder
Where 4 or more episodes of depression, mania or mixed episodes occur in a 12-month period.3
Bipolar disorder not otherwise specified (BP-NOS)
Also known as ‘subthreshold’ bipolar, this is where the patient has some symptoms of the bipolar
spectrum but does not conform to the DSM-5 diagnosis (see CHAPTER 69 ).
Community mood disorders prevalence study
An interesting study conducted over 9 years commencing in 1985 among young American adults
involved a selection of demographic and health characteristics.7 Lifetime prevalence based on six
mood measures were estimated and showed the following distribution.
1. Major depressive episode (MDE): 8.6%
2. Major depressive disorder with severity (MDS-s): 7.7%
3. Dysthymia: 6.2%
4. MDE with dysthymia: 3.4%
5. Any bipolar disorder: 1.6%
6. Any mood disorder: 11.5%
 Page 825
Key points
Mood disorders are marked emotional disturbances consisting of prolonged
periods of profound sadness, excessive joyousness or both, or variations of both,
especially with depression. 69 The disturbed patient
Diagnosis is based on analysis of a requisite number of mood disorder symptoms
as presented by the DSM-5 classification.

These disorders tend to have a hereditary basis which should be addressed in the
patient’s history.
There is not a sight in nature so mortifying as that of a Distracted Person, when his imagination
With all overt disorders, depression or mania, we must be very mindful of the is troubled, and his whole soul is disordered and confused.
importance of being alert for the risk of suicide.
JOSEPH ADDISON (1672–1719)

Page 824
The disturbed and confused patient is a complex management problem in general practice. The
cause may be a single one or a combination of several abnormal mental states (see
References TABLE 69.1 ).1 The cause may be an organic mental disorder, which may be a long-term
insidious problem such as dementia, or an acute disorder (delirium), often dramatic in onset. On
1 American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders the other hand, the cause of the disturbance may be a psychiatric disorder such as panic disorder,
(5th edn). Washington DC: American Psychiatric Association, 2003. mania, major depression or schizophrenia.

2 World Health Organization. The ICD-10 Classification of Mental and Behavioural

Disorders. Geneva: WHO, 1992. Table 69.1 A general classification of psychiatric
disorders1
3 Psychotropic [updated 2021]. Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Guidelines Limited; 2021. www.tg.org.au, accessed 2019.
Organic mental disorders:
4 Wilhelm K et al. Who can alert the general practitioner to people whose common mental acute organic brain syndrome (delirium)
health problems are unrecognised? Med J Aust, 2008; 188(12): 114–18. chronic organic brain syndrome (dementia)
5 Hickie I. Primary care psychiatry is not specialist practice in general practice. Med J Aust,
1999; 170: 171–3. Psychoactive and substance use disorders:
toxic states
6 Austin M-P, Highett N. Guidelines Expert Advisory Committee. Clinical practice drug dependency
guidelines for depression and related disorders. A guideline for primary care health
withdrawal states
professionals. Melbourne: Beyond Blue, 2011.

7 Jonas BS, Brody B, Roper M, Warren WE. Prevalence of mood disorders in a national Schizophrenic disorders
sample of young American adults. Social Psychiatry and Psychiatric Epidemiology, 2013;
38(11): 618–24. Mood disorders:
major depression
bipolar (manic depressive) disorder
adjustment disorders with depressed mood
dysthymia
Anxiety disorders: Hallucination guidelines:
generalised anxiety disorder auditory: psychoses, e.g. schizophrenia
panic disorder
obsessive–compulsive disorder visual: almost always organic disorder
phobic disorders olfactory: temporal lobe epilepsy
post-traumatic stress disorder
tactile: cocaine abuse, alcohol withdrawal
Disorders specific to children

Other disorders: The manifestations of the disturbance are many and include perceptual changes and
postpartum psychiatric illness hallucinations, disorientation, changes in consciousness, changes in mood from abnormally
eating disorders elevated to gross depression, agitation and disturbed thinking, including delusions.
personality disorders
body dysmorphic disorder A diagnostic approach
A summary of the diagnostic strategy model for the disturbed or confused patient is presented in
TABLE 69.2 .

Key facts and checkpoints Page 826

Depression affects 15% of people over 65 and can mimic or complicate any other Table 69.2 The disturbed mind: diagnostic strategy model
illness, including delirium and dementia.1
Probability diagnosis
Elderly patients with depression are at a high risk of suicide.
The 4 Ds:
Always search vigorously for the cause or causes of delirium. dementia
Seeing patients in their home is the best way to evaluate their problem and delirium (look for cause)
support systems. It allows opportunities for a history from close contacts and for depression
checking medication, alcohol intake and other factors. drugs: toxicity, withdrawal

The diagnosis of dementia can be overlooked: a Scottish study showed that 80% Serious disorders not to be missed
of demented patients were not diagnosed by their GP.2 Cardiovascular:
CVAs
Patients with a chronic brain syndrome (dementia) are at special risk of an acute
brain syndrome (delirium) in the presence of infections and many prescribed cardiac failure
drugs.1 arrhythmia
acute coronary syndromes
Consider prescribed and illicit substances, including the severe anticholinergic Neoplasia:
delirium syndrome.
cerebral
The key feature of dementia is impaired memory. cancer (e.g. lung)
Severe infections:
The two key features of delirium are disorganised thought and attention.
 septicaemia Alzheimer disease A term used for both senile and presenile dementia, which has
characteristic pathological degenerative changes in the brain.
HIV infection
infective endocarditis Cognition The mental functions of perception, thinking and memory. It is the
Hypoglycaemia process of ‘knowing’.
Bipolar disorder/mania
Compulsions Repeated, stereotyped and seemingly purposeful actions that the
Schizophrenia states
person feels compelled to carry out but resists, realising they are irrational (most
Anxiety/panic are associated with obsessions).
Subdural haematoma
Confusion Disorientation in time, place and person. It may be accompanied by a
Pitfalls (often missed) disturbed conscious state (see TABLE 64.1 , CHAPTER 64 ).
Illicit drug withdrawal
Conversion The process by which thoughts or experiences unacceptable to the
Fluid and electrolyte disturbances mind are repressed and converted into physical symptoms.
Faecal impaction (elderly)
Urinary retention (elderly) Delirium (also termed ‘toxic confusional state’) A relatively acute disorder in which
Hypoxia impaired consciousness is associated with abnormalities of perception or mood.
Pain syndromes (elderly) Delusions Abnormal, illogical or false beliefs that are held with absolute conviction
Rarities: despite evidence to the contrary.
autoimmune encephalitis
Dementia An acquired, chronic and gradually progressive deterioration of memory,
hypocalcaemia/hypercalcaemia intellect and personality. Presenile dementia or early-onset dementia is dementia
kidney failure under 65 years of age. Senile dementia refers to older patients (usually over 80
hepatic failure years).
prion diseases (e.g. Creutzfeldt–Jakob disease)
Dissociation A psychological disorder in which unpleasant memories or emotions
Seven masquerades checklist (all possible) are split off from consciousness and the personality and buried into the
unconsciousness.
Depression
Diabetes Depersonalisation An alteration in the awareness of the self—the person feels
Drugs unreal.
Anaemia Hallucinations Disorders of perception quite divorced from reality. Features:
Thyroid disorder
Spinal dysfunction (severe pain in elderly) mostly auditory or visual
UTI a false perception—not a distortion
Is the patient trying to tell me something?
perceived as normal perceptions
Consider anxiety, depression, emotional deprivation or upset, change in
environment, borderline personality disorder, serious personal loss. independent of the person’s will

Illusions False interpretations of sensory stimuli such as mistaking people or

familiar things.
Glossary of terms
Obsessions Recurrent or persistent thoughts, images or impulses that enter the
mind despite efforts to exclude them.
 Somatisation The conversion of mental experiences or states into bodily Sedatives and anxiolytics
symptoms, with no physical causation.
Infections
Specific: Urinary tract
Probability diagnosis Lower respiratory (e.g. pneumonia)
Otitis media
The diagnosis depends on the age and presentation of the patient. In a teenager the Page 827 Cellulitis
probable causes of acute confusion or irrational behaviour include drug toxicity or withdrawal,
schizophrenia, severe depression or a behavioural disorder. Intracranial: Meningitis
Encephalitis
It is the elderly who commonly present with confusion. The questions that must be asked are:
Systemic: Infective endocarditis
Is the problem one of the 4 Ds—dementia, delirium, depression or drugs—or something else? Septicaemia
HIV
If delirium is the problem, what is the cause?
Other viral infections
Depression affects 15% of people over 65 and can mimic other causes of confusion and Malaria
behavioural disturbance.
Metabolic disturbances
Significant prescribed drugs include hypnotics, sedatives, oral hypoglycaemics, Uraemia, hepatic failure
antihypertensives, digoxin, antihistamines, anticholinergic drugs and antipsychotics. Electrolyte disturbances
Dehydration
Serious disorders not to be missed
Endocrine disturbances
There are many serious underlying disorders that must be considered, especially with delirium Diabetic ketoacidosis, hypoglycaemia
(see TABLE 69.3 ). Cerebral organic lesions, including space-occupying lesions (e.g. cerebral Hypothyroidism/hyperthyroidism
tumour, subdural haematoma), severe infection (systemic or intracerebral) and cancer at any site,
especially lung, breast, bowel or lymphoma, must be ruled out. Nutritional and vitamin deficits
Vitamin B complex deficiency (esp. B6, B12)
Table 69.3 Wernicke encephalopathy
Important causes of delirium (typical examples of
each group) Hypoxia
Respiratory failure, cardiac failure, anaemia
Drug intoxication and drug sensitivity Vascular
Anticholinergics CVA
Antidepressants Acute coronary syndromes
Sedatives
Head injury and other intracranial problems
Alcohol, opioids, etc.
Seizures
Withdrawal from substances of abuse and prescribed drugs Complex partial seizures
Alcohol
‘Subtle’ causes
Opioids
Pain (e.g. herpes zoster)
Amphetamines
Emotional upset
Cannabis
 Environmental change Tranquillisers and hypnotics:
Peri-operative/anaesthetic effect major tranquillisers (e.g. chlorpromazine)
Faecal impaction minor tranquillisers (e.g. diazepam)
Urinary retention hypnotics
lithium
Anti-epileptics
The sudden onset of delirium may suggest angina, myocardial infarction or a cerebrovascular Antihistamines 1 and 2
accident. Twenty per cent of patients with delirium also have underlying heart failure.3 Antihypertensives
Corticosteroids
Pitfalls Cardiac drugs:
There are many pitfalls, especially with drug toxicity or withdrawal from the so-called illicit digoxin
drugs. In the elderly in particular, fluid and electrolyte disturbances, such as dehydration, diuretics
hypokalaemia, hyponatraemia and hypocalcaemia, can cause delirium. Bowel disturbances such beta blockers
as faecal impaction or constipation can cause delirium and incontinence of both faeces and urine.
Opioids
Sympathomimetics
Seven masquerades checklist
All the following disorders can cause disturbed or confused behaviour, particularly in the elderly:
Psychogenic factors
depression: a very important cause of ‘pseudodementia’
Apart from the primary psychiatric disorders of anxiety, depression, mania and schizophrenia,
drugs: toxicity or withdrawal (see TABLE 69.4 ) relatively simple and subtle social problems, such as loneliness, boredom, a domestic upset,
financial problem or similar issues, can trigger a confusional state.
diabetes: especially hypoglycaemia, which can occur with type 2

anaemia: often from self-neglect or chronic blood loss The clinical approach
thyroid disorders: both hyperthyroidism and hypothyroidism can present with disturbed
behaviour; ‘myxoedemic madness’ may be precipitated by atropine compounds History
urinary tract infection: causes or contributes to 20% of cases of hallucinations or illusions2 Developing rapport with the disturbed or confused patient is essential and can be helped by a
warm handshake or a reassuring pat on the shoulder. The basis of the history is a careful account
spinal dysfunction: with its many severe pain syndromes, such as sciatica, can be a significant from relatives or witnesses about the patient’s behaviour.
factor
When communicating with the patient, speak slowly and simply (avoid shouting), face the
Page 828 patient and maintain eye contact. Important features are the past history and recent psychosocial
history, including recent bereavement, family upsets and changes in environment. Search for
Table 69.4 Prescribed drugs that can cause evidence of depression and note any organic symptoms such as cough, constipation and so on.
delirium
Mental status examination
Anticholinergic: The most practical bedside screening test of mental function is the Mental Status Questionnaire
antiparkinsonian (e.g. benztropine) of Kahn and colleagues,4 which includes 10 simple questions.
tricyclic antidepressants
 1. What is the name of this place? blood glucose

2. What city are you in now? urea and creatinine and electrolytes

3. What year is it? calcium and phosphate

4. What month is it? vitamin D Page 829

5. What is the date today? thyroid function tests

6. What year were you born? liver function tests

7. When is your birthday? serum vitamin B12 and folate levels

8. How old are you? ECG/troponin (?acute coronary syndrome)

9. Who is the prime minister/president? chest X-ray

10. Who was the prime minister/president before him? cerebral CT scan, especially non-contrast CT

(Interpretation: normal 9–10; mildly impaired 8–9; confused/demented 7 or less.) syphilis serology

Other MMSEs are presented in CHAPTER 125 . HIV

arterial blood gases

Examination
The patient’s general demeanour, dress and physical characteristics should be noted at all times.
Assess the patient’s ability to hear, see, speak, reason, obey commands, stand and walk. Any
problems related to the special senses can cause confusion.
Look for features of alcohol abuse, Parkinson disease and hypothyroidism.
Examine the neurological system and keep in mind the possibility of a subdural haematoma,
which may have followed a forgotten fall.
Don’t omit the rectal examination to exclude faecal impaction, melaena, cancer and
prostatomegaly (in males), and also check the bladder for evidence of chronic retention.
Investigations
Investigations to consider for delirious or demented patients (unknown cause):
urinalysis and microscopy
cultures of blood and urine
Behavioural emergencies: management of the
acutely disturbed patient1
Delirious or psychotic patients can be paranoid and respond defensively to the world around
them. This behaviour can include aggressive and violent behaviour, resulting in danger to
themselves, their friends and family and to their medical attendants.
Dangerousness should be assessed from features such as the patient’s past history (especially
previous dangerous behaviour), age, sex, recent stress, victim behaviour, muscle bulk, presence
of weapons, degree of overactivity and the manner of handling of the present distress by others.
The patient may be in a state of acute panic and trying to flee a situation or in an agitated
psychotic state prepared to confront the situation. It should be emphasised that most violent
individuals are not mentally ill.
Most cases require an injection (the ideal intravenous administration can be extremely difficult
and hazardous), which is often interpreted as a physical attack. It may not be possible to diagnose
the cause of the problem before giving the injection.

total and differential blood count; ESR Approach to management

 Assess the environment and don’t move into the patient’s space until in a position of control. administration. Benzodiazepines are generally the drugs of first choice over antipsychotics in
tranquillisation.5 However, the IV route allows titration to the desired degree of sedation and has
React calmly. Communicate calmly and simply. a more immediate effect.
State your task firmly and simply.
Intravenous medication
Try to control the disturbed patient gently.
diazepam or midazolam 5 mg IV initially
Ensure the safety of all staff and make certain that heroics are not attempted in dangerous
then
circumstances.
2.5–5 mg increments IV, repeated every 3–4 minutes until required level of sedation (rousable
An adequate number of staff to accompany the doctor is essential—six is ideal (one for
drowsiness) is reached—up to a maximum of 20–30 mg, when specialist advice is needed,
immobilisation of each limb, one for the head and one to assist with drugs).1
especially if further boluses are necessary
Patients should be placed on the floor in the prone position. and/or droperidol 5–10 mg IV or olanzipine

Principles of sedative administration1 Intramuscular medication

Use the safest possible route of administration whenever possible (i.e. oral in preference to If this route considered appropriate:
parenteral but often impractical). Intravenous administration has the lowest margin of safety.
midazolam 5–10 mg IM
Parenteral administration should be restricted to severely disturbed patients.
or (if history of benzodiazepine tolerance)
Closely monitor vital signs during and after sedative administration.
droperidol 5–10 mg IM Page 830
Avoid intramuscular diazepam because of poor absorption.
or
Be cautious of intravenous midazolam in such patients because of the risk of respiratory
depression. olanzapine 5–10 mg repeated every 2–4 hours

Avoid benzodiazepines in patients with respiratory insufficiency. Haloperidol is an alternative. or

Patients have died from cardiopulmonary arrest after repeated sedative administration combination midazolam/droperidol
(especially benzodiazepines), so intensive monitoring is essential.
(These first two injections can be repeated in 20 minutes if required. Droperidol is similar to
Monitor the following adverse effects: haloperidol but more sedating. Keep in mind the rare but potentially fatal laryngeal dystonia with
high doses—cover with benztropine 2 mg IM.)
respiratory depression
Oral medication (if considered appropriate)
hypotension
diazepam 5–20 mg (o), repeated every 2–6 hours (max. 120 mg/24 hours)
dystonic reactions, including choking
or
neuroleptic malignant syndrome
lorazepam 1–2 mg (o), repeated every 2–6 hours (max. 10 mg/24 hours)
Treatment options 1
If sedation is not achieved, add an antipsychotic medication, e.g. olanzapine 5–10 mg initially or
The treatment in acute medical and psychiatric settings depends on the appropriate mode of risperidone 0.5–1 mg initially.
Postdisturbance evaluation Global cognitive defect—onset over days/hours

Refer to the box.

Determine the likely cause, such as:

acute organic brain syndrome: toxic causes, infection

alcohol or drugs (illicit or prescribed): intoxication, withdrawal DSM-5 criteria for delirium5
manic illness Diagnosis of delirium requires evidence of:
A Disturbance of consciousness, attention and awareness
severe depression B Clinical features appearing over a short period
C A change in cognition:
schizophrenic syndrome
perceptual disturbance
severe panic
incoherent speech
Postoperative cognitive dysfunction and dementia disorientation
This occurs in up to 12% of apparently previously cognitively normal patients who show a memory impairment/deficit
decline of cognitive function, especially in memory and executive function. The study6 shows
that it can occur in surgery other than cardiac surgery, even with regional anaesthesia. It is more D A & C not better explained by another disorder
common in those over 65 years. It is usually self-limiting and lasts 1–12 months. E Evidence of a cause

Acute organic brain syndrome (delirium)

The many labels of acute organic brain syndrome include: Other clinical features1

delirium The patients are usually elderly.

acute confusional state Anxiety and agitation can be severe but in hypoactive deliria (usually due to metabolic
disturbance) the conscious state can vary from drowsiness to coma.
toxic confusional state
Odd behaviour with mood swings can occur.
confusional episode
Psychotic symptoms can occur.
acute brain syndrome
Delusions are usually fleeting.
Main clinical features The disturbance is usually worse at night and may be aggravated by sedation.
Clouding of conscious state Visual hallucinations are a feature of alcohol withdrawal.
Disorientation Attacks on bystanders may result (uncommon).
Impaired attention Always seek a cause.1 A list of causes is presented in TABLE 69.3 . The most important causes
are:
Impaired memory
infections (usually in urinary tract, lungs or ear, or systemic in young or elderly)
 prescribed drugs or

Anticholinergic delirium olanzapine 2.5 mg (o) daily as a single dose

Consider this cause (from drugs with anticholinergic properties or illicit substances). Features If oral administration is not possible or when parenteral medication is required (cover with
include hyperactivity, marked thought disorder, vivid visual hallucinations and very disturbed benztropine 2 mg (o) or IM):
behaviour.
haloperidol 0.5 mg IM as a single dose
Differential diagnosis of delirium or
Page 831
In the earlier stages it may mimic the various psychiatric disorders, including anxiety, olanzapine 2.5 mg IM as a single dose
depression, various hallucinatory states, particularly agitated schizophrenia (rarely), extreme
manic states, complex partial seizures, dementia. Consider deafness. Delirium is common in the For anticholinergic delirium:
hospital setting, especially in patients ≥65 years of age.
tacrine hydrochloride 15–30 mg with caution by slow IV injection (an antidote)
Investigations
Note:
Investigations are those listed under ‘The clinical approach’ earlier in the chapter.
For hypoxia, give oxygen.
Treatment
Avoid benzodiazepines, especially in children and in patients with respiratory insufficiency.
Principles:
Consider necessity for pain relief.
Acute delirium is a medical emergency.
Use lower doses of parenteral medications in the very old and frail.
Establish normal hydration, electrolyte balance and nutrition.
Dementia (chronic organic brain syndrome)
Consider alcohol withdrawal and give a trial of thiamine when the cause of delirium is
unknown. Dementia or neurocognitive disorder is an important diagnosis to consider in the elderly patient.
The DSM criteria for dementia are presented in CHAPTER 125 .
Attend to helpful environmental factors (e.g. calm atmosphere, a night-light, orientation clues,
presence of friends and relatives). The main feature of dementia is impairment of memory, especially recent memory, when the
person cannot remember what has happened a few hours (or even moments) earlier but may
Give oxygen if hypoxic, e.g. respiratory distress. clearly remember the events of the past.

Medication The more serious behavioural changes encountered with dementia tend to occur in the advanced
stages. However, these disturbances may be precipitated by illness such as infections, emotional
Medication1 may not be needed, but it will be if there are symptoms of anxiety, aggression or upset and drugs. These serious disturbances include:
psychosis (doses for a fit adult). A single dose is usually adequate.1
uninhibited behaviour
For anxiety and depression:
hallucinations (generally uncommon)
midazolam 1.25–5 mg IM
paranoid delusions
For psychotic behaviour:
If a stable patient becomes acutely disturbed, delirium should be suspected.
haloperidol 0.5 mg (o) as a single dose
Presenile dementia—Alzheimer type
However, the foremost differential diagnosis should be ‘pseudodementia’ caused by severe
The main features are:
depression.
onset in late 50s and early 60s
A simple comparison between schizophrenia and dementia is shown in TABLE 69.6 .
insidious onset

early loss of short-term memory

Table 69.6 Comparison of schizophrenia and dementia
progressive decline in intellect
Dementia Schizophrenia
death in 5–10 years
Onset Middle-aged or elderly Young
more common in Down syndrome Memory Always impaired Usually unaffected
Delusions Rare Frequent
Differential diagnosis of dementia
Hallucinations Uncommon Frequent
There are two approaches to the differential diagnosis, including consideration of the classic Thought broadcasting Never Frequent
causes of disturbed behaviour as summarised in the mnemonic in TABLE 69.5 .7

Table 69.5 Differential diagnosis of dementias A vigorous search for a possible cause of dementia is warranted since there are a significant
number of reversible causes. In particular, it is important to exclude the psychiatric conditions
that may mimic dementia.
D = Delirium
drugs (see toxic) Treatment1
E = Emotional disorder = depression To control psychotic symptoms or disturbed behaviour: Page 832
endocrine = thyroid
risperidone 0.5–2 mg (o) daily
M = Memory = benign forgetfulness
E = Elective = anxiety disorders/neuroses or

N = Neurological: olanzapine 2.5–10 mg (o) daily in 1 or 2 doses

CVA
To control symptoms of anxiety and agitation:
head trauma
T = Toxic: oxazepam 7.5 mg (o) 1 to 4 times daily. Avoid benzodiazepines for more than 2 weeks
drugs/medication For depression—administer antidepressants
metabolic disease
Treat any folate and vitamin D deficiency
I = Intellect—low or retarded
A = Amnesic disorders—Korsakov syndrome
The acute psychotic patient
S = Schizophrenia (chronic)
Acute psychosis is the presence of the mental state where appreciation of reality is impaired as
Source: Reproduced with permission from McLean S. Is it dementia? Aust Fam Physician, 1992; 21: 1762–6.
evidenced by the presence of typical psychotic symptoms such as delusions, hallucinations, post-concussion
mood disturbance and bizarre behaviour.8 Refer to the diagnostic strategy for hallucinations in bereavement
TABLE 69.7 .
multiple sclerosis
Seven masquerades checklist
Table 69.7 Hallucinations: diagnostic strategy
model Depression
Diabetes
Drugs (iatrogenic/social, illicit)
Probability diagnosis
Thyroid/other endocrine (hypothyroid)
Drugs (illicit or prescribed)
Urinary tract infection (esp. elderly)
Alcohol (acute or chronic)
Schizophrenia Is the patient trying to tell me something?
Febrile delirium Consider conversion disorder (hysteria); fabrication.
Affective (mood) disorders
Drug withdrawal (incl. alcohol, hypnotics)
The differential diagnoses of patients presenting with psychoses is presented in TABLE 69.8 .
Dementias (esp. Lewy body)
Serious disorders not to be missed
Table 69.8 Causes of psychoses8
Vascular:
cerebrovascular disease
migraine (luminous) Functional psychoses:
Infections: schizophrenia
encephalitis/meningitis schizophreniform disorder (shorter duration of symptoms)
septicaemia schizoaffective disorder (core symptoms of schizophrenia + mood symptoms)
any serious febrile illness bipolar mood disease (depressed or manic phase)
Tumours: Drug-induced psychoses
cerebral tumours Organic-based psychoses
cancer treatment Other:
Other: delusional disorder (paranoid psychoses)
hypoxia
brief psychotic disorder (rapid resolution)
liver failure
folie à deux (psychosis occurring simultaneously in two close associates)
metabolic/electrolyte imbalance
dehydration
Pitfalls (often missed) Early diagnosis
Major depression
Extreme fatigue Early recognition of a psychosis, particularly schizophrenia, is extremely important, as early
intervention leads to improved outcomes. Early or prodromal symptoms include the following:
Vitamin deficiency (esp. B group)
Seizure disorders (esp. complex partial) social withdrawal
Rarities:
reduced attention and concentration
narcolepsy
 reduced drive and motivation Page 833
Delusions of Do you feel special, with unusual abilities or power?
depressed mood grandeur
Delusions of Do you believe that you have sinned or have done something
anxiety
guilt deserving punishment?
irritability/agitation
Source: Reproduced with permission from Keks N , Blashki G. The acutely psychotic patient: assessment and initial management. Aust Fam
Physician, 2006; 35 (3): 90–4.
suspiciousness

sleep disturbance

deterioration in role functioning DSM-5 key diagnostic criteria5—schizophrenia

It is appropriate to ask the correct questions in order to elicit psychotic symptoms. These are
presented in TABLE 69.9 . A Two or more of the following, each present for a significant portion of time
during a 1-month period
Table 69.9 Questions for eliciting psychotic symptoms

Anxiety Have you been feeling especially nervous or fearful? Have you B Social, learning or occupational dysfunction
felt tense and shaky, or experienced palpitations?
C Continuous signs of disturbance for at least 6 months
Depressed Have you been feeling sad or ‘down in the dumps’ recently, not D No evidence of other psychoses, e.g. bipolar
mood enjoying activities as much as before? E Not attributable to effects of substance abuse or other medical condition
Elevated Have you been feeling especially good in yourself, more cheerful
mood than usual and full of life?
Auditory Do you hear voices of people talking to you even when there is no Schizophrenia and associated disorders
hallucinations one nearby?
The term ‘schizophrenia’ (Bleuler, 1911) refers to a group of severe psychiatric illnesses
Thought Have you felt that thoughts are being put into your mind?
characterised by severe disturbances of emotion, language, perception, thought processes,
insertion
volition and motor activity. The causes of schizophrenia disorders are unknown, but genetic
Do you experience telepathy? factors and drug abuse are implicated.
Thought Have you experienced thoughts being taken out of your mind?
withdrawal Signs and symptoms of schizophrenia
Thought Have you felt that other people are aware of your thoughts? Positive
broadcasting
Thought echo Have you experienced voices or people echoing your thoughts? delusions

Delusion of Have you felt under the control or influence of an outside force? hallucinations
control
thought disorder
Delusions of Do programs on the television or radio hold special meaning for
reference you?
disorganised speech and behaviour
Delusions of Do you feel that you are being singled out for special treatment?
persecution Is there a conspiracy against you? Negative
 flat affect marijuana

poverty of thought Also consider complex partial seizures and a personality disorder. Other psychoses are presented
in TABLE 69.8 .
lack of motivation Page 834
A comparison of delirium, dementia and functional psychosis is presented in TABLE 69.10 .
social withdrawal

reduced speech output

Table 69.10 Comparison of the clinical features of delirium, dementia and
Cognitive
acute functional psychoses9
distractibility
Feature Delirium Dementia Acute psychosis
impaired working memory
Onset Rapid Slow— Rapid
impaired executive function (e.g. planning) insidious
Duration Hours to weeks Months to Depends on
impaired insight years response to
treatment
Mood
Course over 24 Fluctuates— Minimal Minimal
mania (elevation) hours worse at night variation variation
Consciousness Reduced Alert Alert
depression
Perception Misperceptions Misperceptions May be
Other features include: common, rare misperceptions
especially visual
bizarre behaviour
Hallucinations Common, visual Uncommon Common,
subject to tension, anxiety or depression (usually) or mainly auditory
auditory
deterioration in work and study performance Attention Distractable Normal to Variable—may
impaired be impaired
peak incidence 15–25 years9—smaller peak at 40 years
Speech Variable, may be Difficulty Variable:
lifetime prevalence 1 in 100 incoherent finding correct normal, rapid
words or slow
equal sex incidence
Organic illness One or both Often absent Usually absent
high risk of suicide or drug toxicity present

Differential diagnosis
Management
Organic factors need to be excluded, especially drugs:
Drug treatment is only a part of total management. Explanation and appropriate reassurance to
amphetamines the family with patient and family supportive care is obviously essential. Supportive
psychotherapy is important in all phases. A team approach is necessary to cope with the disorder,
hallucinogens (e.g. LSD) which usually has a devastating effect on the family. Referral for specialist care is appropriate.
Acute phase risperidone 0.5 mg

Hospitalisation usually necessary

If response is inadequate in 3 weeks, increase the dose according to prescribing guidelines.
Drug treatment for the psychosis1
If no response after 4–6 weeks consider a change to:13
Drug treatment may include the first-generation (typical or conventional) antipsychotics such as
haloperidol and chlorpromazine, which are effective for managing the ‘positive’ symptoms, or an alternative second-generation agent (above)
the second generation (atypical) antipsychotics such as risperidone, olanzapine, quetiapine,
clozapine, amisulpride and aripiprazole, which in addition are more effective at treating the or
‘negative’ and other symptoms of schizophrenia.10
a first-generation antipsychotic such as:
The usual practice rule is to start with a second-generation antipsychotic at a low dose and titrate
upwards at a rate and to a level that is optimal for the patient. Patients with a first psychotic chlorpromazine 200 mg once daily → 500 mg
episode may respond to lower than usual doses.5
haloperidol 1.5 mg once daily → 7.5 mg
1. When oral medication is possible, first-line treatment (for the first episode) is one of (with
starting doses):1,11,12 trifluoperazine 2 mg bd

amisulpride 100 mg nocte 2. Parenteral medication should be avoided if possible in acute care, but if required:1,12

asenapine 5 mg sublingual bd haloperidol 2.5–10 mg IM initially, up to 20 mg in 24 hours, depending on the response

aripiprazole 10 mg once daily or

olanzapine 5 mg nocte olanzapine 5–10 mg IM initially (do not use with benzodiazepines concurrently)

paliperidone CR 3 mg nocte add

quetiapine 50 mg bd → 200 mg bd (by day 5) benztropine 1–2 mg (o) bd (to avoid dystonic reaction)

sertindole 4 mg daily or

risperidone 0.5–1 mg nocte → 2 mg nocte zuclopenthixol acetate 50–150 mg IM as a single dose

ziprasidone 40 mg bd → 80 mg bd (risk of ↑ QT) If dystonic reaction:

zuclopenthixol 20 mg nocte benztropine 1–2 mg IV or IM

Page 835 If very agitated use:

Practice tip diazepam 5–10 mg (o) up to 40 mg/day or 5–10 mg IV

Chronic phase
Typical initial oral therapy:
Long-term antipsychotic medication is recommended to prevent relapse.1
olanzapine 5 mg

or Examples of oral medication regimens:12,13

 olanzapine 5–10 mg (o) nocte Consider other causes (e.g. substances abuse). ECT may help the agitated patient, especially if
catatonic. Consider a trial of clozapine (12.5 mg (o) bd initially, increasing to 200–600 mg
or daily), with strict monitoring for blood dyscrasias and cardiotoxicity, or olanzapine (5–20 mg
daily). A trial of adjunctive ECT should be considered in patients who fail to respond to
risperidone 0.5–1 mg (o) bd, up to 2–4 mg clozapine.
or
Movement disorders from antipsychotic medication1
quetiapine 150 mg (o) bd
Acute dystonias
Aim for lowest possible dose to maintain control.
Usually bizarre muscle spasms affect face, neck, tongue and trunk
Chlorpromazine is not recommended for long-term use because of photosensitivity reactions.
Oculogyric crises, opisthotonos and laryngeal spasm
Use depot preparations if compliance is a problem (usually test dose first).1,11 Examples
include: Treatment:

haloperidol decanoate 50 mg IM initially, then 50–200 mg every 4 weeks benztropine 1–2 mg IV or IM

or Akathisia

flupenthixol decanoate 10 mg IM initially, then 20–40 mg every 2–4 weeks Subjective or objective motor restlessness of feet and legs

or Generally later onset in course of treatment

risperidone 25–25 mg IM initially, then every 2 weeks, titrated to clinical response Treatment:

or reduce dosage until akathisia less troublesome or substitute thioridazine

zuclopenthixol 100 mg IM initially, then titrated to 200–400 mg every 2–4 weeks can use oral propranolol, diazepam or benztropine as a short-term measure

Tips with depot preparations: Parkinsonian

Start with IM test doses and then titrate to recommended controlling levels (half or full Seen relatively early in treatment
Page 836
starting dose).
The akinesia can be confused with drug-induced depression
May take 2–4 months to produce a stable response, so oral supplements may be necessary.
Treatment:
Not as effective as oral therapy.
use lower dose or substitute a phenothiazine in low dosage
Give as deep IM injection with 21 gauge needle in buttock.
alternatively, use benztropine or benzhexol
Use lowest possible dose to avoid tardive dyskinesia.

Reassess at least every 3 months. Tardive dyskinesia1

Closely monitor patient for movement disorders. Tardive dyskinesia is a syndrome of abnormal involuntary movements of the face, mouth,
tongue, trunk and limbs. This is a major problem with the use of long-term antipsychotic drugs
and may occur months or years (usually) after starting treatment and with drug withdrawal.
Drug-resistant schizophrenia14,15
Avoid prolonged use of metoclopramide. Bipolar disorder
Differential diagnosis:
The mood disorders are divided into depressive disorders and bipolar disorders (see
CHAPTER 68 ). Bipolar is a broad term to describe a recurrent illness with episodes of either
spontaneous orofacial dyskinesia
mania or depression with return to normal function in between. The swing in moods in bipolar
senile dyskinesia disorders (manic depressive disorders) is illustrated in FIGURE 68.1 . It affects 1% of the
population.
ill-fitting dentures

neurological disorders causing tremor and chorea

DSM-5 criteria for a manic episode5
If drug withdrawal is ineffective, use tetrabenazine 12.5 mg (o) daily, increasing as necessary.13
The risks and benefits of continuing therapy have to be weighed. A Distinct period for at least 1 week of abnormal and persistent elevated,
expansive or irritable mood
Note: Because of the difficulty with managing tardive dyskinesia, prevention in the form of B Three or more of these unusual features:
using the lowest possible dosage of antipsychotic medication is essential. This involves regular
review and adjustment if necessary. 1. inflated self-esteem or grandiosity

2. decreased need for sleep

Neuroleptic (antipsychotic) malignant syndrome
3. talkative/accelerated speech
This is a potentially fatal adverse effect that can develop at any time. It develops in hours to
days. 4. racing thoughts or flights of ideas
Syndrome: high temperature, muscle rigidity, altered consciousness. Milder variants can occur 5. distractability as reported or observed
(refer to CHAPTER 42 ).
6. increased goal-directed activity or psychomotor agitation
Treatment:
7. excessive activity with ‘painful’ consequences
discontinue medication
C Marked impaired social or occupational functioning or need for hospitalisation
ensure adequate hydration with IV fluids or psychotic features
D Episode not due to substance abuse or other medical condition
if life-threatening:
A–D = a manic episode: at least one in a lifetime for diagnosis
bromocriptine 2.5 mg (o) bd, gradually increasing to 5 mg (o) tds

and

dantrolene 50 mg IV every 12 hours for up to 7 doses Bipolar I disorder has one fully fledged manic or mixed episode and usually depressive episodes.

consultant referral Bipolar II disorder is defined as a major depressive episode with at least one hypomanic episode
lasting a minimum of 4 days but no classic manic episodes.
Cardiac dysfunction
The symptoms of mania may appear abruptly, usually in the teens or young adulthood.
Various psychotrophic agents, particularly the phenothiazines, are prone to cause the adverse
effect of prolongation of the QT interval with potential severe outcomes. Patients should be Typical inherent features, in addition to the above, include:
monitored.
reckless behaviour, overspending
 hasty decisions (e.g. job resignation, hasty marriages) haloperidol or a second-generation antipsychotic, e.g. aripiprazole1,17 quetiapine, asenapine

impaired judgment or

increased sexual drive, energy and activity lithium carbonate 750–1000 mg (o) daily in 2 or 3 divided doses increasing according to
serum levels (warn patients and family about toxicity)
poor insight into the problem
or (a mood stabilising agent)
variable psychotic symptoms—paranoia, delusions, auditory hallucinations
sodium valproate 200–400 mg (o) bd initially
Note: The peak onset is in early adult life. The exact cause is unknown, but there is a Page 837
strong hereditary basis. Episodes may be precipitated by stress. or

‘Hypomania’ is the term used to describe the symptoms of mania that are similar to but less carbamazepine 100–200 mg (o) bd initially
severe (without criterion C) and of shorter duration.
If a parenteral antipsychotic drug is required:
The subsequent major depressive phase is associated with a high risk of suicide.
haloperidol 5–10 mg IM or IV
Good questions to ask the patient with suspected ‘bipolar’ disorder:
Repeat in 15–30 minutes if necessary (risk of tardive dyskinesia). Change to oral medication
How have you been feeling in yourself? as soon as possible.

Have you felt especially good about yourself? Failure to respond to treatment:18,19,20
Do you feel that you are special or have special powers? ensure maximum concentration of first drug
Have you been spending more than usual? switch to a different drug, e.g. olanzapine to lithium
Have you been needing less sleep than usual? combine drugs, e.g. second-degree antipsychotic + lithium

Management of acute mania1,16 ECT is of proven benefit for recalcitrant problems

This is a medical emergency requiring hospitalisation for protection of both family and patient.
Involuntary admission is usually necessary. It may be a first episode or a relapse due to poor
treatment compliance or substance abuse. A recent meta-analysis indicates that antipsychotics
are the most efficacious drugs.
Treatment
Remember to provide supportive psychotherapy with appropriate psychosocial interventions.
Prophylaxis for recurrent bipolar disorder
Over 90% will have a recurrence at some time: consider medication if two or more episodes of
either mania or depression in the previous 4 years.

First line:1 Recommended prophylactic agents5

olanzapine 5 mg (o) nocte initially, then increasing to 10 mg lithium carbonate 125–500 mg (o) bd then adjusted

or or

risperidone 1 mg (o) nocte initially, then increasing to 2 mg second-generation antipsychotic agent

Second line: or (if depression prominent)

 lamotrigine or carbamazepine or sodium valproate Promote a caring support and pyschoeducation program for patient and family. Educate about the
patient’s ‘relapse signature’ for a manic or depressive episode.
Use long-term lithium (e.g. 3–5 years). Target plasma level for maintenance is usually
0.6–0.8 mmol/L. A US study recommended lithium as the prime mood stabiliser.17 Body dysmorphic disorder5
If poor response, use another agent.
Body dysmorphic disorder, which is a type of somatoform anxiety disorder, is characterised by a
Unwanted side effects of lithium include: preoccupation with the belief that some aspect of physical appearance is abnormal, unattractive
or diseased. The person’s concern and distress is out of proportion to any imagined or actual
a fine tremor defect and usually not amenable to reassurance. This preoccupation causes significant functional
impairment. The condition rarely presents directly and may be over-represented in the area of
muscle weakness dermatology or plastic surgery. It begins in late childhood or early adolescence. The person’s
focus is on the face, head or secondary sexual characteristics.
weight gain
Patients may be helped by counselling and psychotherapy including CBT. There is clinical
gastrointestinal symptoms evidence that SSRIs help if the symptoms suggest an obsessive–compulsive disorder. An
antipsychotic agent may help where beliefs are delusional or in the context of a psychotic
hypothyroidism disorder.
nephrotoxicity
Depression
With anti-epileptics, adjust dosage according to clinical response and toxicity.
Depression is very common and presents in a great range of severity. In the context of ‘the
disturbed patient’ depression can be confused with dementia or a psychosis, particularly if the
Management of bipolar depression11,18 following are present:
This is a difficult component to treat and antidepressants should not be used alone.12 Many psychomotor agitation
mood-stabilising agents appear to have a bimodal (antidepressant and antimania) effect and can
be useful in the absence of classical antidepressants.16 psychomotor retardation
A recommended regimen is: delusions

an antidepressant (e.g. SSRI, SNRI or MAOI) hallucinations

plus
Assessment1
lithium, valproate, carbamazepine, quetiapine, lamotrigine or olanzapine (one of these used for
The following questions need to be addressed:
prophylaxis). Avoid using antidepressants alone.
Is the depression primary (i.e. not secondary to another psychiatric condition such as
Antidepressants are usually withdrawn within 1–2 months because of a propensity to precipitate
schizophrenia or anxiety disorder)?
mania.
Is it part of a bipolar disorder? Has there been a previous manic or hypomanic episode? If so, a
ECT is an effective treatment for bipolar depression while psychological therapies such Page 838
different approach to treatment is required.
as CBT and psychoeducation have proven efficacy.
Is the depression caused by another illness or physical factor (e.g. hypothyroidism,
Bipolar I patients usually recover but proceed to have further episodes of depression or mania.12 cerebrovascular disease or medication)?

Liaison with family and carers Is the patient psychotic?

 Is the patient a suicide risk?
The treatment of depression is presented in CHAPTER 10 . very high doses. Refer to CHAPTER 70
Psychoactive substance use disorders
It is important for the GP to be aware of the effects of self-administration of psychoactive
substances, especially their toxic or withdrawal effects. They form a significant consideration for
the differential diagnosis of disturbed patient behaviour. The following substances can cause
these effects.
Withdrawal symptoms in the dependent patient include anxiety, restlessness, irritability,
palpitation and muscle aches and pains, but delirium and seizures are uncommon except with
for the adverse effects of benzodiazepines. The shorter
the half-life, the greater the dependence.
Withdrawal is best achieved by supervising a gradual reduction in dosage aided by Page 839
relaxation techniques and behavioural strategies to help patients cope with insomnia
and anxiety.
Refer to CHAPTER 12 for the effects of opioid dependence, stimulant substance abuse,
hallucinogen abuse and cannabis use and dependence.

Alcohol Psychiatric disorders of childhood and

Toxic and withdrawal effects, including delirium tremens, are outlined in CHAPTER 12 . Abrupt
withdrawal can cause symptoms ranging from tremors, agitation and dysphoria (feeling
thoroughly miserable) to fully developed delirium tremens. Epileptic seizures may also occur.
Barbiturate dependence
adolescence1
The following disturbance problems do occur and must be taken seriously, especially the
potential for suicide in the second decade. Many of these disorders are presented in more detail
in CHAPTER 87 .

Tolerance and symptoms on withdrawal are the main features. Barbiturate withdrawal is a very Attention deficit hyperactivity disorder
serious, life-threatening problem and may be encountered in elderly people undergoing
longstanding hypnotic withdrawal. Symptoms include anxiety, tremor, extreme irritability, Clinical features:
twitching, seizures and delirium.
short attention span
1
Management
distractibility
Undertake withdrawal with medical supervision as an inpatient.
overactivity
Transfer the patient to phenobarbitone or diazepam.
impulsiveness
phenobarbitone 120 mg (o) hourly until sedation
antisocial behaviour
or
Depression
phenobarbitone 30 mg for each 100 mg of shorter-acting barbiturate
Major depression follows the same criteria as for adults. Suicidal ideation has to be considered
reduce the dose gradually over 10–14 days
and taken very seriously if present. Imipramine is probably the drug of choice.
or
Bipolar disorders
diazepam 20–40 mg orally, daily
Mania is seldom diagnosed before puberty. Adolescents may present (uncommonly) with
reduce the dose gradually over 10–14 days symptoms of mania or hypomania.

Benzodiazepine dependence Schizophrenia and related disorders

Schizophrenia is rare before puberty. The criteria for diagnosis are similar to adults: Anxiety disorder

delusion Bipolar disorder

thought disorder Dementia

hallucinations Depression

6 months or more of deterioration in functioning Schizophrenia

Autism Resources
Aggression and irritability can be a feature, especially during adolescence.
Psychotropic guidelines [updated 2021]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2021. www.tg.org.au, accessed January 2021.
Tourette syndrome
Behavioural problems can be part of this syndrome, which requires the attention of an References
experienced consultant.
1 Psychotropic [updated 2021]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Obsessive–compulsive disorders Guidelines Limited; 2021. www.tg.org.au, accessed April 2020.

In about one-third of cases the onset is between 5 and 15 years of age. 2 Biro G. Dementia. Australian Doctor Weekly, 1990; 16 February: I–VIII.

3 Biro G. Delirium in the elderly. Australian Doctor Weekly, 1989; 1 December: I–VIII.
When to refer 21

4 Kahn RL et al. Brief objective measures of the determination of mental status in the aged.
Am J Psychiatry, 1960; 117: 326–9.
Indications for referral to a psychiatrist:
5 Kupfer DJ (Chair). Diagnostic and Statistical Manual of Mental Disorders (5th edn).
severe depression
Washington DC: American Psychiatric Publishing, 2013.
high suicide risk
6 Needham NJ, Webb CE, Bryden DC. Postoperative cognitive dysfunction and dementia:
actual suicide attempt: recent or in the past what we need to know and do. British J Anaesthesia, December 2019; 119(Suppl. 1):
i115–i125.
suspected psychiatric disorders in the elderly: ?depression or schizophrenia; ?depression or
dementia 7 McLean S. Is it dementia? Aust Fam Physician, 1992; 21: 1762–6.

failure to improve with treatment 8 Keks N, Blashki G. The acutely psychotic patient: assessment and initial Page 840
management. Aust Fam Physician, 2006; 35(3): 90–4.
poor family and social supports
9 Norman T, Judd F. Schizophrenia. In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 455–7.
Patient education resources
10 Lovric K. Schizophrenia: update. Medical Observer, 17 September; 2004: 31–2.
Hand-out sheets from Murtagh’s Patient Education 8th edition:
11 Blashki G, Judd F, Piterman L. General Practice Psychiatry. Sydney: McGraw-Hill, 2007:
Anger management 189–90.
12 Buckley N (Chair). Australian Medicines Handbook. Adelaide. Australian Medicines Page 841
Handbook Pty Ltd, 2018: 839–44.

13 Hartling L et al. Antipsychotics in adults with schizophrenia: comparative effectiveness of

first-generation versus second-generation medications: a systematic review and meta-
analysis. Ann Intern Med, 2012; 157(7): 498–511.
70 Anxiety disorders
14 McEvoy JP et al. Effectiveness of clozapine versus olanzapine, quetiapine, and risperidone
in patients with chronic schizophrenia who did not respond to prior atypical antipsychotic
treatment. Am J Psychiatry, 2006; 163(4): 600–10.

15 Leucht S et al. Antipsychotic drugs versus placebo for relapse prevention in schizophrenia:
a systematic review and meta-analysis. Lancet, 2012; 379(9831): 2063–71. Anxiety is a thin stream of fear trickling through the mind. If encouraged, it cuts a channel into
which all other thoughts are drained.
16 Smith LA et al. Pharmacological intervention for acute bipolar mania: a systematic review
of randomised placebo-controlled trials. Bipolar Disorders, 2007; 9(6): 551–60. ARTHUR SOMERS ROCHE (1883–1935)

17 Sachs GS. A 25-year-old woman with bipolar disorder. JAMA, 2001; 285: 454–62.
18 Lovic K. Bipolar affective disorder: update. Medical Observer, 25 November 2005: 25–8.
19 Cipriani A et al. Comparative efficacy and acceptability of antimanic drugs in acute mania:
a multiple-treatments meta-analysis. Lancet, 2011; 378(9799): 1306–15.
20 Geddes JP et al. Lithium plus valproate combination therapy versus monotherapy for
relapse prevention in bipolar I disorder (BALANCE): a randomised open-label trial.
Lancet, 2010; 375(9712): 385–95
21 Biro G. Suicide. Australian Doctor Weekly, 1991; 26 April: I–VIII.
Anxiety is a state of nervousness or uneasiness in response to an actual or perceived stressor. It
has three essential components: psychological (feelings, e.g. frightened),1 somatic (physical, e.g.
palpitations) and cognitive (thoughts, e.g. loss of control). Anxiety is a normal human
physiological response that helps us respond to potential threats or dangers. We cannot get by
without it. With an increase in anxiety, our performance should increase accordingly (e.g.
preparing for exams). When we have too much anxiety, however, a further increase in anxiety
will lead to our performance dropping off, described by the Yerkes–Dodson curve (see
FIG. 70.1 ). The optimal place to be on the curve is to the left of the peak, so we have a positive
response in our performance to an increase in stress. Being at the peak or to the right will make
us vulnerable to stress.
 FIGURE 70.1 Yerkes−Dodson curve illness anxiety disorder

anxiety due to another medical condition

Anxiety becomes a problem when the stressor overwhelms us, resulting in poor performance, or
if the unwanted consequences of the anxiety response give us undesirable physiological
other specified anxiety disorder
consequences. The stressor causes limbic activation, which in turn leads to autonomic and
neuro–endocrine activity (down-regulation) that causes various physiological responses, unspecified anxiety disorder
including activation of the hypothalamic–pituitary axis. Blood flows from the gut to the skeletal
muscles, smooth muscle contracts in the bowels and increases nausea, muscle tension increases, Other conditions discussed in this chapter include: Page 842
pupils dilate, the heart rate increases and blood pressure rises. These changes account for various
somatic symptoms commonly seen in anxiety disorders (e.g. tension headaches, palpitations, eye obsessive–compulsive disorder
strain and irritable bowel-like symptoms). In high stress situations, a flight–fright–freeze
response can ensue. body dysmorphic disorder (see CHAPTER 69 )

The physiological role of anxiety and the way in which excess anxiety can cause these physical post-traumatic stress disorder
symptoms can be explained to patients suffering from anxiety disorders—and the GP is very well
placed to conduct such psycho-education. Patients suffering from somatic symptoms are often acute stress disorder
unaware of the physiological consequences of anxiety and usually find this clarification
comforting. It can help motivate patients to pursue strategies to reduce them. adjustment disorder with anxious mood

somatic symptom disorder

Prevalence and classification of anxiety
Generalised anxiety disorder
Anxiety disorders affect 14% of the population,2 with many people fulfilling the criteria for
multiple anxiety disorders and/or a common codiagnosis of depression.3 The criteria for defining Generalised anxiety comprises excessive anxiety and worry about various life circumstances and
anxiety, as for many mental health disorders, have broadened over time, so it is difficult to is not related to a specific activity, time or event such as trauma, obsessions or phobias. It affects
compare historic prevalence figures. Specific phobia is the most commonly reported anxiety- up to 5% of the population. There is an overlap between generalised anxiety disorder (GAD) and
related diagnosis (1 in 5 women and 1 in 10 men), and PTSD is the most common disorder (over other anxiety disorders.
6%).2 Anxiety disorders listed in the DSM-5 are:4
General features:
separation anxiety disorder
persistent unrealistic and excessive anxiety
selective mutism
worry about a number of life circumstances for 6 months or longer
specific phobia

social anxiety disorder (social phobia)

Diagnostic criteria for generalised anxiety disorder
panic disorder
Three or more of:
panic attack (specifier)
restless, ‘keyed up’ or ‘on edge’
agoraphobia
easily fatigued
generalised anxiety disorder
difficulty concentrating or ‘mind going blank’
substance/medication-induced anxiety disorder
irritability
 muscle tension difficulty swallowing or ‘lump in throat’

sleep disturbance diarrhoea/abdominal distress

frequency of micturition
Clinical features difficulty breathing/smothering feeling

Psychological dizziness or lightheadedness

Apprehension/fearful anticipation (even of dying) Symptoms and signs according to systems

Irritability Neurological: dizziness, headache, trembling, twitching, shaking, paraesthesia
Exaggerated startle response Cardiovascular: palpitations, tachycardia, flushing, chest discomfort
Sleep disturbance and nightmares Gastrointestinal: nausea, indigestion, diarrhoea, abdominal distress
Impatience Respiratory: hyperventilation, breathing difficulty, air hunger
Panic Cognitive: fear of dying, difficulty concentrating, ‘mind going blank’, hypervigilance
Sensitivity to noise
Diagnosis of generalised anxiety disorder
Difficulty concentrating or ‘mind going blank’
The diagnosis is based on:
Physical history—it is vital to listen carefully to what the patient is saying
Motor tension: exclusion of organic disorders simulating anxiety by history, examination and appropriate
investigation, e.g. TFTs, ECG, CXR, drug screen
muscle tension/aching
exclusion of other psychiatric disorders, especially depression and adjustment disorder with
tension headache anxious mood (comorbidity is a feature of anxiety)
trembling/shaky/twitching Note: Anxiety and major depression often coexist.
restlessness Main differential diagnoses (note that this conforms to the seven masquerades list):
tiredness/fatigue depression
Autonomic overactivity: substance abuse—alcohol or drug (including benzodiazepine) dependence/withdrawal
dry mouth hyperthyroidism
palpitations/tachycardia angina and cardiac arrhythmias
sweating/cold, clammy hands iatrogenic drugs
flushes/chills caffeine intoxication
These organic (medical) causes need to be ruled out. Acute or chronic organic brain disorder
Early dementia
Organic disorders
Important checkpoints Drug-related:
These self-posed questions should be considered by the family doctor Page 843 amphetamines
before treating an anxious patient: bronchodilators
caffeine excess
Is the anxiety primary or secondary?
ephedrine/pseudoephedrine
Is this hyperthyroidism? levodopa
thyroxine
Is this depression?
Cardiovascular:
Is this normal anxiety?
angina
Is this mild anxiety or simple phobia? cardiac arrhythmias
Is this moderate or severe anxiety? mitral valve prolapse
Endocrine:
Is this an adjustment disorder?
hyperthyroidism
phaeochromocytoma
Management carcinoid syndrome
hypoglycaemia
The management applies mainly to generalised anxiety, as specific psychotherapy is required in
other types of anxiety. Much of the management can be carried out successfully by the family insulinoma
doctor using brief counselling and support. Cognitive behaviour therapy (CBT), in which Neurological:
maladaptive thinking, feelings, perceptions and related behaviours are identified, assessed,
challenged and modified, can be of considerable benefit.5 Exercise, both low or high intensity, epilepsy, especially complex partial seizures
has been shown to decrease anxiety symptoms. Hence psychological therapy and non-drug acute brain syndrome
strategies are first-line therapy for most anxiety disorders.6
Respiratory:
asthma
Table 70.1 Significant differential diagnoses of
acute respiratory distress
anxiety
pulmonary embolism

Psychiatric disorders
Depression
Principles of management6,7
Drug and alcohol dependence/withdrawal
Psychological interventions (e.g. ‘life coaching’ and CBT) are first line.
Benzodiazepine dependence/withdrawal
Personality disorder, e.g. borderline Give careful explanation and reassurance:
Schizophrenia explain the reasons for the symptoms
 be aware that patients often ‘worry about worrying’ (e.g. that anxiety is dangerous, that years)
they are going crazy or ‘losing it’)7

reassure the patient about the absence of organic disease (can only be based on a thorough
examination and appropriate investigations)
Table 70.3 Openly accessible Australian-based interactive internet
direct the patient to appropriate resources to give insight and support programs for anxiety
Provide practical advice on ways of dealing with the problems.
Organisation and program name Website
Advise on the avoidance of aggravating substances such as caffeine, nicotine and other drugs. CRUfAD clinical programs www.crufad.org*
Advise on general measures such as stress management techniques, relaxation programs, e-hub Australian National University, www.moodgym.anu.edu.au
mindfulness and regular exercise and if possible organise these for the patient (don’t leave it to MoodGYM
the patient).
*in-house clinical support is supplied, but costs apply
Advise on coping skills, including personal and interpersonal strategies, to manage difficult
circumstances and people (in relation to that patient).
Pharmacological treatment9,10
Provide ongoing supportive psychotherapy.
The key principles of using medication for anxiety disorders are:
TABLES 70.2 and 70.3 list a number of good sources of reliable information about anxiety.8
Non-pharmacological management is first line for a reason. Do not rush into using medication
and repeatedly reassess whether to continue prescribing.
Table 70.2 Australian websites providing information about anxiety Of the medications, SSRIs are regarded as first line and other antidepressants such as SNRIs,
e.g. duloxetine and venlafaxine, and the tetracyclic mirtazapine have shown some benefit in
Provider and hosting organisation Website anxiety disorders (see TABLES 70.4 and 70.5 ), but their benefits are not as long-lasting as
Beyond Blue, The National Depression www.beyondblue.org.au/home psychological and behavioural approaches.11,12
Initiative www.youthbeyondblue.com Assess efficacy of antidepressants after at least 12 weeks (in contrast to 6–8 weeks Page 844
(for young people aged 12–25 when treating major depression) and, if of clear benefit, treat for at least 6 months.
years)
The cessation of an SSRI commonly causes withdrawal symptoms. A common trap (for doctor
Black Dog Institute, Prince of Wales www.blackdoginstitute.org.au
and/or patient) is to interpret these symptoms as a recurrence of the underlying anxiety and as
Hospital, University of New South Wales www.biteback.org.au (for evidence that the drug continues to be required.
young people aged 12–18
years) Propranolol is of benefit in social anxiety disorder, particularly with anticipated stressful
events (e.g. public speaking, presenting at work events).
Centre for Clinical Interventions, www.cci.health.wa.gov.au
Government of Western Australia, Benzodiazepines have a limited role in anxiety disorders and should not be recommended. If
Department of Health used, they should be reserved for people who have not responded to at least 2 therapies (e.g.
Clinical Research Unit for Anxiety and www.crufad.org psychological therapy and antidepressant) and used only in the short term (stop within 6
Depression (CRUfAD), St Vincent’s weeks), e.g. diazepam 2–5 mg (o), as a single dose. They can also be used for specific phobias
Hospital, Sydney (e.g. fear of flying, agoraphobia and MRI machines).

ReachOut Australia http://au.reachout.com (for Consider buspirone, which has negligible potential for tolerance or dependence.
young people aged 14–25
years)
 changing landscape. There is insufficient evidence to differentiate between efficacy of the individual SSRIs.

Table 70.4 Dosage recommendations for SSRIs in anxiety

disorders11
Panic attack9
Page 845
A panic attack is defined4 as a discrete period of intense fear or discomfort in which
Drug Initial dose Maximum dose four (or more) of the following symptoms develop abruptly and reach a peak within 10 minutes:
citalopram 10 mg 40 mg
shortness of breath or smothering sensations
escitalopram 5 mg 20 mg
fluoxetine 10 mg 80 mg dizziness, unsteady feelings, lightheadedness or faintness
fluvoxamine 50 mg 300 mg (split dose to bd over 150 mg) palpitations or accelerated heart rate
paroxetine 10 mg 60 mg
trembling or shaking
sertraline 25 mg 200 mg
sweating

feeling of choking

Table 70.5 nausea or abdominal distress

Initial medication options for anxiety disorders11
depersonalisation or derealisation
Condition Medication options
numbness or tingling sensations (paraesthesia)
Generalised anxiety SSRI, duloxetine (30–120 mg), venlafaxine
disorder controlled release (75–225 mg) flushes (hot flashes) or chills
Panic attack none, psychological intervention
chest pain or discomfort
Panic disorder SSRI, venlafaxine controlled release
(75–225 mg) fear of dying
Obsessive– SSRI
fear of going crazy or of doing something uncontrolled
compulsive disorder
Agoraphobia (without none the 3 Cs—chest pain, chills, choking
panic)
Organic disorders that simulate a panic attack are hyperthyroidism, phaeochromocytoma and
Social anxiety SSRI, venlafaxine controlled release
hypoglycaemia.
disorder (generalised) (75–225 mg)
Social anxiety propranolol 10–40 mg orally, 30–60 minutes Note: A single panic attack is not synonymous with panic disorder, which is characterised by
disorder (non- before the social event or performance recurrent panic attacks. Some 40% of young people have had at least one spontaneous panic
generalised) attack. Panic disorder, which affects 2-3% of the population, is when there are recurrent attacks
that are followed by at least a month of worrying about future attacks and/or the consequences of
Specific phobias not recommended them. Panic disorder can occur with or without associated agoraphobia, though >90% of people
Post-traumatic stress SSRI, mirtazapine with agoraphobia develop it as a result of recurrent panic attacks.11
disorder
Management
Reassurance, explanation and support (as for generalised anxiety). This is the mainstay of
Note: Not every SSRI has Australian TGA approval for use for each anxiety disorder; the TGA website can provide up-to-date information on this
treatment. A patient who is experiencing a panic attack should be taught breathing techniques to muscle weakness
help control hyperventilation (e.g. timing breaths, breathing through nose, slow inspiration,
measured medium-sized breaths). Relaxation techniques can also be employed, such as sexual dysfunction
progressive muscle relaxation, and patients can teach themselves these techniques via online
resources (see TABLES 70.2 and 70.3 ). Rebreathing into a paper bag is rarely indicated in a diminished motivation
general practice setting10,11 as the hyperventilation has usually settled by the time the patient
lowered sense of competency
presents. The above breathing techniques can be used by the patient anywhere and are more
socially acceptable than breathing noisily into a paper bag when an attack is feared. lowered self-esteem
The danger in a panic attack is the danger to the self by the self 9 (e.g. fleeing into danger, non- Some principles of using BDZs in anxiety disorders11 are:
intentional overdose).
always check for a history of problem alcohol or drug use
Cognitive behaviour therapy (CBT)
be wary of prescribing to unfamiliar patients, especially if asking for a particular drug by name
(See CHAPTER 4 .) (may indicate drug-seeking behaviour)

CBT aims to reduce anxiety by teaching patients how to identify, evaluate, control and modify carefully discuss the potential for addiction with the patient
their negative, fearful thoughts and behaviour. If simple psychotherapy and stress management
fail, then patients should be referred for CBT, usually to a psychologist (or occasionally avoid using short-acting drugs as they are the most highly addictive Page 846
psychiatrist), although some GPs have a particular interest in providing CBT.
prescribe only small quantities of medication at a time
Patients’ fears, especially if irrational, need to be clearly explained by the therapist, examined
rationally and challenged, then replaced by positive calming thoughts. use only as short-term treatment

ensure regular review of the patient and continuity of care

Pharmacological treatment

Pharmacological treatment is rarely of benefit in the acute attack, as the attacks occur too quickly If already being used, BDZs should be tapered very slowly (this may take 6–12 months or
for their effect to be of use. For ongoing treatment of panic disorder with or without agoraphobia, longer). A benzodiazepine withdrawal syndrome, which can include rebound anxiety,
depression, confusion, insomnia and seizures, may occur (see CHAPTER 69 ). However, the
there is little good quality evidence comparing medication to CBT.10
doctor’s fear of being responsible for a withdrawal syndrome has also been used as leverage by
Continual use of benzodiazepines (BDZs, e.g. alprazolam or clonazepam) has previously been those seeking drugs. If in doubt, seek specialist drug and alcohol advice.
utilised in panic and other anxiety disorders but is now no longer recommended.11 Problems
associated with benzodiazepine use include: Phobic disorders
impaired alertness, oversedation In phobic states, the anxiety is related to specific situations or objects out of proportion to the
apparent stimulus. Phobic disorders include agoraphobia, social anxiety disorder (otherwise
dependence known as social phobia) and specific phobias. Patients avoid these objects or situations, become
anxious when they anticipate having to meet them and/or endure them with intense distress.
increased risk of accidents
Common phobias are spiders, people and social situations, flying, open spaces, confined spaces,
adverse effects on mood and behaviour heights, cancer, thunderstorms, death and heart disease. The problem is seldom encountered in
practice and there is usually no call for drug therapy.
interaction with alcohol and other drugs

potential for abuse and overdose Agoraphobia

risks during pregnancy and lactation Avoidance includes staying away from many situations where there are issues of distance from
home, crowding or confinement. Typical examples are travel on public transport, crowded shops
and confined places. Patients fear they may lose control, faint and suffer embarrassment.
Social anxiety disorder
Social anxiety disorder (social phobia) is experienced in anxiety-provoking social situations in
which the person feels subject to critical public scrutiny (e.g. canteens, restaurants, staff
meetings, speaking engagements). It can either be generalised (fear of numerous social
situations, including both performance and interactional situations) or non-generalised (fear of
one or just a few situations or performance type). The treatments for the two subtypes are quite
different (see TABLE 70.5 ). The sufferer may be a shy, self-conscious, premorbid personality.
Social phobias, including performance anxiety and symptoms, are often related to sympathetic
overactivity.
Management
The basis of treatment for all phobias is psychotherapy that involves behaviour therapy (e.g.
graduated exposure therapy) and cognitive therapy.
Illness anxiety disorder
Also referred to as hypochondriasis or health disorder, it implies worrying excessively about
being or becoming seriously ill despite no actual physical symptoms. Treatment is counselling
through stress management, including relaxation techniques.
Obsessive–compulsive disorder (OCD)
Anxiety is associated with obsessive thoughts and compulsive rituals.
The obsessions are recurrent and persistent intrusive ideas, thoughts, impulses or images that are
usually resisted by the patient. Compulsions are repetitive, purposeful and intentional behaviours
conducted in response to an obsession to prevent a bad outcome for the person (e.g. excessive
washing of the genitals).
Mild obsessional or compulsive behaviour can be regarded as normal in response to stress.
Management
Optimal management is a combination of psychotherapeutic—particularly CBT—and
pharmacological treatment, namely:
cognitive behaviour therapy for obsessions
exposure and response prevention for compulsions
an SSRI is first line if pharmacological required
Body dysmorphic disorder
The person with this disorder has an exaggerated preoccupation with an imagined defect in
appearance (see CHAPTER 69 ).
Patients may be helped by counselling and psychotherapy.
Post-traumatic stress disorder (PTSD)
PTSD is defined somewhat differently, in terms of time lapses from the traumatic Page 847
event. It refers to a similar constellation of symptoms that persist for more than 1 month after
exposure:
acute PTSD: duration of symptoms <3 months
chronic PTSD: duration of symptoms ≥3 months
delayed onset PTSD: onset of symptoms at least 6 months after the stressor
Typical distressing recurrent symptoms:
intrusive features regarding experiences—recollections, nightmares, flashbacks
avoidance of events that symbolise or resemble the trauma
persistent negative alterations in cognitions and mood
hyperarousal phenomena: exaggerated startle response, irritability, anger, difficulty with
sleeping and concentrating, hypervigilance, reckless or self-destructive behaviour
Treatment
This is difficult and involves counselling, the basis of which is facilitating abreaction of the
experience by individual or group therapy. The aim is to allow the patient to face up openly to
his or her memories. Persistent symptoms are an indication for referral for focused psychological
intervention therapy.
Pharmacological treatment
SSRIs have limited evidence of some benefit, but response is slower than for their use in
depression (trial for 8–12 weeks) and, if effective, they should be used for at least 12
months.11,12
Hyperventilation
Hyperventilation syndrome can be a manifestation of anxiety. The main symptoms are:
 lightheadedness, faintness or dizziness The symptoms are in excess of the normal expected reaction to the stressor but have persisted for
less than 6 months following the removal of the stressor.
breathlessness
The basic treatment is non-pharmacological: counselling, relaxation and stress management. A
palpitations short-term course of drug treatment, e.g. diazepam for 2 weeks, can be used in severe or
persisting cases.
sweating

dry mouth with aerophagy Somatic symptom disorder4

agitation Somatic symptom disorder (ssD) is defined as the tendency to experience, conceptualise and
communicate mental states and distress as physical symptoms or altered bodily function. It is
fatigue and malaise associated with excessive illness, worry and abnormal illness behaviour. ssD is persistent with a
history of numerous unsubstantiated physical complaints over several years, beginning before the
Other symptoms include paraesthesia of the extremities, peri-oral paraesthesia and carpopedal age of 30. Previously called somatisation disorder in the DSM-IV-TR, or hysteria in the past, ssD
spasm. has two subtypes: those with predominantly somatic complaints and those with predominantly
pain issues (previously known as pain disorder).
Carpopedal spasm: biochemical explanation
Symptoms include:
CO2 loss from hyperventilation
gastrointestinal—nausea, vomiting, abdominal pain
Equation: H++HCO−3≷CO2+H2O
genital/sexual—dysmenorrhoea, dyspareunia, genital pain, anorgasmia
pCO2 ↓→ HCO−3↓ and pH↑ (respiratory alkalosis) cardiovascular—palpitations, shortness of breath, chest pain

H+ depleted and replenished from plasma proteins pseudoneurological—amnesia, loss of voice, dizziness, difficulty walking/talking/swallowing

H(protein)≷H+ + Pr− pain—diffuse, neck/back ache, joint/limb pain, headaches

Protein anions accumulate and take up calcium other—fatigue, globus, fainting

Ca++ + 2 Pr−≷Ca(Pr)2 None of these symptoms has an adequate physical explanation. ssD is more common in Page 848
females. There is persistent refusal to be reassured that there is no explanation for the
Thus ionised calcium is depleted causing hypocalcaemic tetany. symptoms. There is associated impaired social, occupational and family functioning.

Management Management involves skilful counselling, explanation for symptoms, searching for and treating
comorbid conditions (e.g. depression, anxiety) and CBT. It is preferable to be managed by a
Reassure. single supportive doctor. It is not malingering.

Encourage patients to identify the cause and then control their rate and depth of breathing.
Adjustment disorder with anxious mood
This term is reserved for patients who present with anxiety symptoms within 3 months of
response to an identifiable psychosocial stressor. It is a common presentation of anxiety
symptoms and should be regarded as a separate entity to a generalised anxiety disorder. It
impairs social or occupational functioning.
Acute stress disorder
This is defined as a constellation of abnormal anxiety-related symptoms lasting at least 3 days
and occurring within 4 weeks of a traumatic event. The symptoms can include a sense of
numbing, altered sense of reality, amnesia of the event, intrusive memories or dreams of the
event, dissociative reactions, physiological reactions to triggers, avoidance of reminders, sleep
disturbance, hypervigilance, anger and aggression, exaggerated startle response and agitation. It
is appropriate to provide people with an acute stress reaction with debriefing and counselling (if
agreeable); pharmacological intervention is rarely indicated. Get enough sleep and rest.

Listen to music.
Anxiety in children
Do things that you enjoy.
Anxiety disorders can occur in childhood and, if left untreated, may persist into adolescence and
adulthood. Panic attacks are not uncommon. Other disorders include GAD, social phobia, Look at positives.
obsessive–compulsive disorder, PTSD, selective mutism and separation anxiety disorder. Non-
pharmacological approaches are preferred, and may require input from an educational and Develop strategies to laugh.
developmental psychologist. Separation anxiety disorder for real, threatened or imagined
Go to the movies or a show weekly.
separation is the most common anxiety disorder; if severe and persistent, treatment (under
specialist supervision) with one of the SSRIs could be considered. Consider getting a pet.

When to refer Remember that your job is what you do (not who you are).

Have regular chats with close friends.

If the diagnosis is doubtful
Exercise for 30 minutes, 4 or 5 times a week. There is good evidence this helps.
If drug and alcohol dependence or withdrawal complicate the management
Learn to meditate.
If psychosis appears to be involved
Avoid interpersonal conflicts.
Failure of response to basic treatment
Learn to accept what you cannot change.
Hospitalisation is indicated

Note: The threshold for referral varies depending on the GP’s confidence and experience in Patient education resources
dealing with anxiety, and the available referral pathways.
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Practice tips Anxiety disorder

Be careful not to confuse depression with anxiety. Coping with a crisis

A depressive disorder can be the cause of anxiety symptoms. Phobias

For anxiety, especially with cardiovascular symptoms (palpitations and/or Post-traumatic stress disorder
flushing), always consider the possibility of hyperthyroidism and order thyroid
function tests. Social phobia

Always try non-pharmacological measures to manage anxiety whenever possible. Stress: coping with stress

Be careful with the use of benzodiazepines: aim for short-term treatment only.
References
1 Selzer R, Ellen S. Psych-Lite: Psychiatry That’s Easy to Read. Sydney: McGraw-Hill
Tips to beat stress Education, 2010: 41.
 Australian Bureau of Statistics. Survey of Mental Health and Wellbeing: Summary of
2 Results, 2007. Available from: www.abs.gov.au/ausstats/abs@.nsf/mf/4326.0, accessed
February 2018.
3 Tiller J. Depression and anxiety. MJA Open, 2012; 1(Suppl. 4): 28–32.
4 American Psychiatric Association. Diagnostic and Statistical Manual for Mental
Disorders: DSM-5. Available from: www.dsm5.org/Pages/Default.aspx, accessed
February 2018.
5 Covin R et al. A meta-analysis of CBT for pathological worry among clients with Page 849
GAD. J Anxiety Disord, 2008; 22(1): 108–16.
6 Deacon B, Abramowitz J. Cognitive and behavioural treatments for anxiety disorders: a
review of meta-analysis findings. J Clin Psychol, 2004; 60: 429–41.
7 Kyrios M. Anxiety disorders: assessment and management in general practice. Aust Fam
Physician, 2011; 40(6): 370–4.
8 Reynolds J, Griffiths K, Christensen H. Anxiety and depression: online resources and
management tools. Aust Fam Physician, 2011; 40(6): 382–6.
9 Royal Australian and New Zealand College of Psychiatrists. Australian and New Zealand
clinical practice guidelines for the treatment of panic disorder and agoraphobia. Aust N Z J
Psychiatry, 2003; 37: 641–56.
10 Imai H et al. Psychological therapies versus pharmacological interventions for panic
disorder with or without agoraphobia in adults. Cochrane Database of Systematic Reviews
2016, Issue 10.
11 Anxiety disorders [updated 2021]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2021. www.tg.org.au, accessed January 2021.
12 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2018: 823–6.
Page 850
71 Difficult behaviours
There are patients in every practice who give the doctor and staff a feeling of ‘heartsink’ every
time they consult.
THOMAS O’DOWD 1988 1
Difficult, demanding and angry patients
Weston defines a ‘difficult patient’ as one with whom the physician has trouble forming an
effective working relationship.2 However, it is more appropriate to refer to difficult problems
rather than difficult patients—it is the patients who have the problems while doctors have the
difficulties.
The proportion of consultations that are taken up by difficult patients (also called heartsink or
hateful patients) has been measured as being 15%.2 While in the minority, by their nature they
can often take up a disproportionate amount of the doctor’s time, energy and emotional reserves.
One difficult patient may disrupt an entire consulting session. The concept of the difficult patient
was first popularised by the landmark paper by Groves in 1978,3 and many difficult patient types
have since been described. Four of the more common and better-known types4 are as follows:
1. The dependent clinger
Dependent clingers require constant reassurance, and have an unquenchable need for
explanation, affection and attention. They may break social or professional barriers to meet
this need, such as calling the doctor at home or continually making unplanned presentations at
the surgery. The doctor can feel threatened by such patients, and if pushed away, dependent
clingers can feel rejected, which may exacerbate their behaviour. They respond well to an
empathic approach that needs to be delivered within clearly defined and enforced boundaries.
2. The entitled demander
Entitled demanders attempt to control the doctor through intimidation and by inducing guilt or
fear in the doctor. They project an air of superiority and entitlement, and may demand tests or
consultation prioritisation, withhold payment and are often litigious. The doctor may
understandably feel afraid and despairing in such situations, but this type of difficult patient is
 often driven by an underlying insecurity and is attempting to obtain control through bluster.
The appropriate use of power is clearly required for such patients, but it is important (and
often difficult) to stay in control and interact in a respectful and non-confrontational manner.
This may include pointing out calmly but clearly when boundaries are being crossed.
3. The manipulative help rejecter
Manipulative help rejecters are patients who are on a self-destructive path but refuse to take
important medical advice. They crave the relationship with the doctor, and solving or
improving the medical situation may threaten that relationship. Substance abuse is a common
manifestation of how manipulative help rejecters present and manipulate the relationship, as
are non-compliance and chronic pain issues. The doctor can feel frustrated and even
demoralised, and it is important to reflect on our own feelings and expectations with such
patients.
4. The self-destructive denier
Management strategies
Our professional responsibility is to rise above interpersonal conflict and facilitate productive
communication by establishing a caring and responsible relationship with such patients. An
appropriate strategy is to follow Professor Aldrich’s precepts for the ‘difficult’ patients who do
not have an organic disorder or a psychiatric illness:6
1. Give up trying to cure them—they are using their symptoms to maintain their relationship with
you: accept them as they are.
2. Accept their symptoms as expressions of their neurosis. Make a primary positive diagnosis—
only test if you have to.
3. Structure a program for them, for example, ‘Mrs Jones, I have decided that we should meet for
15 minutes every second Wednesday at 10 am.’

Rather than wanting to cling to the doctor (like the manipulative help rejecter), self-destructive
deniers appear to want to damage themselves, their motivation driven by self-loathing. They
may induce feelings of indifference or hatred in the doctor because of their destructive
behaviour and apparent refusal to change their ways. An empathic approach is the most useful
here, but this may be emotionally draining for the doctor.
An inevitably poor consultation will follow if we allow feelings of hostility to affect our
communication with the difficult patient, especially the demanding, angry or ‘compo’ patient.
4. During the consultation, demonstrate your genuine interest in the person’s life, garden, work
and so on; show less interest, even boredom, for the litany of complaints.
Other management guidelines include the following.
Use reassurance with caution—it is insufficient by itself and should be soundly based.
Be honest and maintain trust.

However, it is important not to misdiagnose organic disease and also to consider the possibilities Allow the patient a fair share of your time—this is your part of the contract. At the same time
of various psychological disorders, which may be masked. Hahn and colleagues identified six indicate that there are limits to your time (set rules).
diagnoses:3,5
Be polite yet assertive.
generalised anxiety disorders
Avoid using labels of convenience and placebo therapy.
multi-somatoform disorder
Be honest about your understanding (or lack of understanding) of the problems.
dysthymia Page 851
Remember that the consultation is often the therapy, without a prescription.
panic disorder
Do not undermine other doctors. Avoid collusion.
major depression
Have limited objectives—zealous attempts to cure may be inappropriate.
drug dependency/alcohol abuse
Do not abandon the patient, however frustrating the relationship. Accept this as a legitimate
It is therefore appropriate to maintain traditional standards by continually updating the database, role.
integrating psychosocial aspects, carefully evaluating new symptoms, conducting an appropriate
Remain available if alternative therapies are sought by the patient.
physical examination and being discriminating with investigations.
Take extra care with the ‘familiar’ patient and sometimes the patient who brings gifts.
Management of the violent and dangerous patient is presented in CHAPTER 69 on the disturbed
Maintain your professional role.
patient.
 If you are uncomfortable with counselling, consider early referral to a counsellor while
maintaining contact in the future.
You may have to accept that there are some people whom no one can help.
Complaints
Complaints from all groups of patients are common and disturbing. The main issues are usually a
breakdown in communication or unmet expectations. This is likely to occur when something has
gone wrong.
Tips to handle complaints include:7
don’t ignore them—deal with them as quickly as possible
symptoms of emotional distress.
The first part of the three-part model, which is called ‘feeling understood’, includes a Page 852
full history of symptoms, exploration of psychosocial cues and health beliefs, and a
brief, focused, physical examination. In the second stage, termed ‘broadening the agenda’, the
basic aim is to involve discussion of both emotional and physical aspects during the consultation.
It includes reframing the patient’s symptoms and complaints to provide insight into the link
between physical, psychological and life events.
In the third stage, ‘making the link’, simple patient education methods are used to explain the
causation of somatic symptoms, such as the way in which stress, anxiety or depression can
exaggerate symptoms. It also includes projection or identification techniques using other
sufferers as examples.

speak directly to the complaining patient, preferably face to face

refer the complaint to the medical registration board or to your medical insurer for advice if
there is a legal claim for negligence
an appropriate strategy for other complaints is to acknowledge them in writing and follow up
with a phone call
The angry patient
Anger in patients and their relatives is a common reaction in the emotive area of sickness and
healing. The anger, which may be concealed or overt, might be a combination of fear and
insecurity. It is important to bear in mind that many apparently calm patients may be harbouring
controlled anger. The practice of our healing art is highly emotive and can provoke feelings of
frustration and anger in our patients, their friends and their relatives.

recommend a meeting to discuss concerns Anger is a normal and powerful emotion, common to every human being, yet with an enormous
variety of expression. The many circumstances in medicine that provoke feelings of anger
check all facts surrounding the issue including detailed copies of reports and records of phone include:9
calls
disappointment at unmet expectations
An ABCDE of dealing with complaints is presented in TABLE 71.1 .
crisis situations, including grief

Table 71.1 The ABCDE of dealing with complaints any illness, especially an unexpected one

the development of a fatal illness

A Acknowledge the complaint.
B Set Boundaries for the patient. iatrogenic illness

C Show Compassion and Caring. chronic illness, such as asthma

D Determine the reason for the behaviour.
financial transactions, such as high cost for services
E Escape or Exit, if there is an impasse.
referral to colleagues, which is often perceived as failure

poor service, such as long waits for an appointment

A ‘heartsink’ survival kit
problems with medical certificates
A pilot workshop of managing ‘heartsink’ patients described by Mathers and Gask8
led to the
formulation of a ‘heartsink survival’ model for the management of patients with somatic poor response to treatment
 inappropriate doctor behaviour (e.g. brusqueness, sarcasm, moralistic comments, aloofness, Use clear, firm, non-emotive language.
superiority)
Listen intently.
The patient’s anger may manifest as a direct confrontation with the doctor or perhaps with the
receptionist, with litigation or with public condemnation. Allow patients to ventilate their feelings and help to relieve their burdens.

In an extreme example, a Melbourne doctor was shot and killed by an angry patient who had Allow patients to ‘be themselves’.
been denied a worker’s compensation certificate for a claim considered unjustified.
Give appropriate reassurance (do not go overboard to appease the patient).
When a patient expresses anger about the medical profession or our colleagues it may be directed
at us personally and, conversely, if directed to us it may be displaced from someone else, such as Avoid a judgmental approach
a spouse, employer or other figure of authority.
Allow time (at least 20 minutes). Page 853

What is anger? For the threatening aggressive patient, sit closest to the door to allow escape should the patient
turn violent.
Anger is a person’s emotional response to provocation or to a threat to his or her equilibrium. If
inappropriate, it is almost always the manifestation of a deeper fear and of hidden insecurity.
Angry, abusive behaviour may be a veiled expression of frustration, fear, self-rejection or even
Analysing the responses
guilt.
Search for any ‘hidden agenda’.
On the other hand, its expression may be a defence against the threat of feeling too close to the
Recognise the relationship between anger and fear.
doctor, who could have an overfamiliar, patronising or overly friendly attitude towards the
patient. Some patients cannot handle this threatening feeling.
Recognising distress signals
Basically, anger may be a communication of fear and insecurity. The patient could be saying, ‘I
am afraid there is something seriously wrong with me. Are you doing everything to help me?’ It is important to recognise signs of deteriorating emotional distress:11

body language (demonstrative agitated movements or closing in)

Consulting strategies10
speech (either becoming quiet or more rapid and louder)
When one feels attacked unfairly, to react with anger is a natural human response. This response,
however, must be avoided since it will damage the doctor–patient relationship and possibly colour (either becoming flushed or pale)
aggravate the problem.
facial expression (as above, tense, tightening of muscles of eye and mouth, loss of eye contact)
The initial response should be to remain calm, keep still and establish eye contact.
manner (impatient, threatening)
‘Step back’ from the emotionally charged situation and try to analyse what is happening.
Skilful consulting strategies should then be employed. It is worthwhile having a contingency
Ask the patient to sit down and try to adopt a similar position (the mirroring strategy) without plan, such as memorising a telephone number to summon security help.
any aggressive pose.

Address the patient (or relative) by the appropriate name, be it Mr or Mrs Jones or a first Questions to uncover the true source of anger
name.
The following represent some typical questions or responses that could be used during the
Appear calm, comfortable and controlled. interview.

Be interested and concerned about the patient and the problem. Rapport building
 ‘I can appreciate how you feel.’

‘It concerns me that you feel so strongly about this.’ Table 71.2 Guidelines for handling the angry
patient
‘Tell me how I can make it easier for you.’
Do Don’t
Confrontation
Listen Touch the patient
‘You seem very angry.’ Be calm Meet anger with anger
‘It’s unlike you to be like this.’ Be comfortable Reject the patient
Show interest and concern Be a ‘pushover’
‘I get the feeling that you are upset with …’
Be conciliatory Evade the situation
‘What is it that’s upsetting you?’
Be genuine Be overfamiliar
‘What really makes you feel this way?’ Allay any guilt Talk too much
Be sincere Be judgmental
Facilitation, clarification
Give time Be patronising
‘I find it puzzling that you are angry with me.’ Arrange follow-up Be drawn into action
‘So you feel that …’ Act as a catalyst and guide

‘You seem to be telling me …’

‘If I understand you correctly …’ The drug-dependent doctor shopper12

‘Tell me more about this …’
Nicholas Carr’s five-step approach:
‘I would like you to enlarge on this point—it seems important.’
1. Elicit request for drug early:
Searching ‘In what way did you think I could help?’
‘Do you have any special concerns about your health?’ ‘What sort of thing did you have in mind?’
‘Tell me about things at home.’ 2. Respectful refusal and brief minimal explanation:
‘How are things at work?’ ‘I don’t prescribe Valium (or requested drug).’
‘How are you sleeping?’ ‘Yes, I could but I choose not to.’
‘Do you have any special dreams?’ 3. Avoid being drawn into the patient’s agenda:
‘Do you relate to anyone who has a problem like yours?’ ‘I understand this doesn’t suit you, but I don’t prescribe these drugs.’
‘If there’s any one thing in your life that you would like to change, what would it be?’ 4. Depersonalise:
Some important guidelines are summarised in TABLE 71.2 .
 ‘It’s nothing to do with you personally—this is the way I work.’ Mood disorder: violence, usually associated with depression (rarely mania); parents with
severe depression; history of suicide attempts in depression
5. Offer alternative help:
Episodic dyscontrol syndrome (similar to intermittent explosive disorder)
‘I’m happy to talk about other ways of helping, but they don’t involve a prescription.’
Intellectual disability combined with personality disorder and behavioural disturbances
Management Alcohol abuse or dependency
When confronted with an angry patient, the practitioner should be prepared to remain Page 854
Amphetamine or benzodiazepine abuse or dependency
calm, interested and concerned. It is important to listen intently and allow time for the patient to
ventilate his or her feelings. From a management viewpoint, homicidal threats must be taken very seriously.
A skilful consultation should provide both doctor and patient with insight into the cause of the The diagnostic strategy model for antisocial behaviour in adults is presented in TABLE 71.3 .
anger and result in a contract in which both parties agree to work in a therapeutic relationship.
The objective should be to come to amicable terms which, of course, may not be possible,
depending on the nature of the patient’s grievance. Table 71.3 Antisocial behaviour in adults:
diagnostic strategy model
If the problem cannot be resolved in the time available a further appointment should be made to
continue the interview.
Probability diagnosis
Sometimes it may be appropriate to advise the patient to seek another opinion. If the angry Functional (no medical or mental component)
patient does have problems with relationships and seeks help, it would be appropriate to arrange
counselling so that the patient acquires a more realistic self-image, thus leading to improved self- Drugs (alcohol, illicit or prescribed)
esteem and effectiveness in dealing with people. In addition, it should lead to the ability to Alcohol (acute or chronic)
withstand frustration and cope with the many vicissitudes of life—a most rewarding outcome for Antisocial personality disorder (esp. cluster B)
a consultation that began with confrontation. Affective (mood) disorders
Drug withdrawal (incl. alcohol, hypnotics)
Violence and dangerousness Mental impairment
Serious disorders not to be missed
Dangerousness has been defined as a ‘propensity to cause serious physical injury or lasting
psychological harm to others’ and, in the context of people with mental illness, ‘the relative Vascular:
probability of their committing a violent crime’.13 cerebrovascular disease (incl. SAH)
acute coronary syndromes
Dangerousness is not related only to mental illness and, interestingly, most offenders have no
psychiatric diagnosis. It is not an inherited, immutable characteristic of an individual but tends to Infections:
surface on impulse in a particular context given a whole range of situational factors. Prediction encephalitis/meningitis
of the risk of violence is not straightforward. HIV/AIDS
septicaemia
Various groups have been identified as contributing risk factors for violent conduct.13
Tumours:
Schizophrenic psychoses, including: older male paranoid schizophrenics; younger males prone cerebral tumours
to act violently and impulsively, presumably due to hallucinatory commands
Other:
Morbid jealousy: associated with delusions of infidelity post-ictal (epilepsy)
delirium
Antisocial personality disorder
subdural haematoma
 psychosis (schizophrenia, bipolar, paraphrenia) Around 80–90% of suicides have given clear or subtle warnings to family, friends or doctors.
schizotypal personality disorder
There is no evidence that asking patients about suicidal ideation provokes suicidal acts.
Pitfalls (often missed)
Head injury Doctors in Australia and other Western countries have a high suicide rate.
Fluid and electrolyte imbalance
Dementia (esp. early) Suicide risk
Rarities: Blumenthal’s15 overlapping model lists five groups of risk factors (see FIG. 71.1 ):
neurosyphilis
prion disease (e.g. CJD)
premenstrual dysphoria syndrome
Seven masquerades checklist
Depression (major)
Diabetes (hypoglycaemia)
Drugs (iatrogenic/social, illicit)
Thyroid/other endocrine (hyper/hypothyroid)
Is the patient trying to tell me something?
Consider conversion disorder (hysterical fugue)
Malingering/fabrication
Severe anxiety/panic

Suicide and parasuicide

The haunting issue of suicide and parasuicide is presented in CHAPTER 10 . The Page 855
disturbed patient is always a suicide risk rather than a homicide risk. The importance of
recognising depression with an associated suicide risk in the elderly patient has been emphasised
heavily in CHAPTER 69 .

Facts and figures14

More than 90% of suicides occur without underlying chronic conditions but most people are FIGURE 71.1 Overlap model for understanding suicidal behaviour16
significantly depressed at the time.
1. Psychiatric disorders:
In Australia, suicide is the second most common cause of death between the ages of 11 and 25
years. Children as young as 5 years of age have committed suicide. affective disorder and alcohol abuse in adults

Those who talk about suicide may attempt it later. schizophrenia

About half of those committing suicide have seen a doctor within their last month of life. depression and conduct disorder in young people
 anorexia nervosa
2. Personality traits:
impulsiveness and aggression
3. Environmental and psychosocial factors:
poor social supports
chronic medical illness (e.g. AIDS)
significant loss
4. Family history and genetics (both nature and nurture):
emulation of relatives
specific ethnic groups in custody
5. Biological factors:
possible serotonin deficiency
Parasuicide
Parasuicide is attempted suicide; in many cases, patients are drawing attention to Page 856
themselves as a ‘plea for help’. The patient presenting with threatened suicide or self-harm, be it
a traumatic wound or overdosage of medication or a toxic agent, is a ‘heartsink’ challenge.
Consider borderline personality disorder, especially in the adolescent or young adult. It is
important for the GP to take an active role in the support of the patient and family after discharge
from hospital, but preferably in conjunction with a psychiatric or counselling service. Arrange
frequent consultations at first and ensure adequate follow-up, especially for missed
appointments.
Personality disorders
People with personality disorders may become very distressed and acutely disturbed under stress
or provocation, and this may involve dramatic scenes, including public suicide threats. It is
important to recognise personality disorders because they usually cause considerable distress to
the patients, their family, society and GPs. The prevalence is estimated as 11–12%.
In practice, the personality disorders of most concern are those that present with hostility, either
verbal or physical, particularly if a suicide or homicide threat is involved. It is a mistake to
assume that those patients who manifest violent or psychopathic behaviour have a personality
disorder or, conversely, that the meek and mild are free from personality disorder.
The diagnosis of personality disorder can be difficult. As practitioners we tend to have a ‘gut
feeling’ about the diagnosis but often find it difficult to classify the personality of the patient and
then to manage it appropriately.
The main characteristics of a personality disorder are:17
lack of confidence and low self-esteem
long history from childhood
difficulties with interpersonal relationships and society
recurrent maladaptive behaviour
relatively fixed, inflexible and stylised reaction to stress
minimal insight
perception of difficulties as external to themselves
The medical/psychiatric significance:
maladaptive relationships with GPs and society
problem of sexually dysfunctional lives
risk of substance abuse and self-destructive behaviour
prone to depression and anxiety (usually low grade)
susceptible to ‘breakdown’ under stress
Personality is the result of a genetic template and the continuing interaction of the person with
outside influences (peer pressures, family interactions, influential events) and personal drives in
seeking an identity. The outcome is a unique behaviour pattern manifesting as a personality trait
or character reflective of the individual’s self-image and fundamental to his or her sense of
personal identity.18
Although personality is unique, it is possible to make a hypothesis that one is normal or
abnormal. If abnormal, it is possible to stereotype it according to the predominant symptoms or
behaviours.
Using the International Classification of Disease (ICD-10) and the DSM-5 classification, various
subtypes are readily identifiable (see TABLE 71.4 ),19 which can be considered in three main
groups. There is a considerable overlap between the subtypes within a group20 and it is more
important to understand the specific features of a person’s personality than to categorise them.21
Table 71.4
Table 71.4 Summary of main personality disorders—based on DSM-5
Main cluster group Subtypes Main features of disorder
Cluster A Paranoid Suspicious, oversensitive,
Withdrawn Schizoid argumentative, defensive,
unforgiving, hyperalert, cold and
Synonyms: Schizotypal
humourless
odd
Shy, emotionally cold, introverted,
eccentric detached, avoids close
relationships, indifferent to praise
and criticism
Odd and eccentric, sensitive,
suspicious and superstitious,
socially isolated, odd speech,
thinking and behaviour. Falls short
of criteria for schizophrenia
Cluster B Antisocial Impulsive, insensitive, selfish,
Antisocial (sociopathic, callous, superficial charm, lack of
psychopathic) guilt, low frustration level, doesn’t
Synonyms:
Histrionic learn from experience, deceitful,
dramatic relationship problems (e.g.
(hysterical)
emotional promiscuous), reckless disregard
Narcissistic
sociopathic (‘prima for safety of self and others, lack of
flamboyant donna’) self-control
erratic Borderline Self-dramatic, egocentric,
immature, vain, dependent,
(‘impulsive’)
theatrical, manipulative, easily
bored, emotional scenes,
inconsiderate, seductive, craves
attention and excitement
Morbid self-admiration, grandiose,
exhibitionist, insensitive, craves
and demands attention, exploits
others, preoccupied with power,
success, beauty, lacks interest in
and empathy with others, bullying,
arrogant, insightless, ‘charming,
disarming, alarming’, prone to fits
of destructive anger and revenge,
sense of entitlement
Confused self-image/identity,
impulsive, reckless, emptiness, ‘all
or nothing’ relationships—
emotionally unstable and intense,
damaging reckless behaviour, full
of inappropriate anger and guilt,
fear of abandonment, lacks self-
control, uncontrolled gambling,
spending, etc.
Note: High incidence of suicide and
parasuicide; drug abuse
Cluster C Avoidant Anxious, self-conscious, fears
Dependent (anxious) rejection, timid and cautious, low
self-esteem, overreacts to rejection
Synonyms: Dependent
and failure
anxious Obsessional
Passive, weak-willed, lacks vigour,
fearful (obsessive–
lacks self-reliance and confidence,
compulsive,
inhibited overaccepting, avoids
anankastic)
responsibility, seeks support,
excessive need to be cared for
Rigid, perfectionist, pedantic,
indecisive, egocentric, preoccupied
with orderliness and control,
cautious
Note: The ‘dark antisocial triad’: narcissism, psychopathy (seeks control) and Machiavellianism (the end justifies the means).22
Practice tip
The cardinal feature of antisocial personality disorder is lack of empathy.
The antisocial personality disorders (ASPD) group (1–2% of population) tend to come to the
attention of GPs more frequently, with some individuals representing ‘heartsink’ patients
because of demanding, angry or aggressive behaviour. They are more common among people in
prison. The withdrawn group are typically distant, suspicious and socially isolated but fall short
of a true psychotic syndrome. GPs have problems communicating with them because they are
often suspicious, which can make proper physical examination and management difficult.
In the dependent and inhibited groups, which may overlap with an anxiety state, the Page 857
main features are nervousness, timidity, emotional dependence and fear of criticism and
rejection. They are frequent attenders (the ‘fat file’ syndrome) and are often accompanied by
friends and relatives because of their insecurity. It is imperative to think laterally and of
borderline personality disorder in the person, especially young, presenting with suicide attempts,
an eating disorder or uncontrolled behaviour.
Management 5 Hahn SR et al. The difficult patient. J Gen Intern Med, 1996; Jan 1, 11(1): 1–8.

The best treatment is a supportive, ‘therapeutic’ community and an understanding and supportive 6 Elliott CE. ‘How am I doing?’ Med J Aust, 1979; 2: 644–5.
GP. Psychotherapies are the key to long-term treatment. It is vital to understand that people with
personality disorders perceive the world from a fundamentally different perspective. Problematic 7 Avant handbook. Handling professional complaints against doctors. Sydney, Avant
patients, if agreeable, may respond well to psychological intervention and behavioural Advocacy 2015.
techniques, especially operant conditioning (reinforcing acceptable behaviour) and aversive
conditioning (correcting inappropriate behaviour).16,17 CBT has the most to offer. These 8 Mathers NJ, Gask L. Surviving the ‘heartsink’ experience. Fam Pract, 1995; 12: 176–83.
therapies are best administered by clinicians with specialised training and expertise.16
9 Murtagh JE. The angry patient. Aust Fam Physician, 1991; 20: 388–9.
The borderline and narcissistic disorders in particular respond well to specific types of
10 Montgomery B, Morris L. Surviving: Coping with a Life Crisis. Melbourne: Lothian,
psychotherapeutic intervention. Patients’ self-esteem needs careful support while maladaptive
1989: 179–86.
modes of behaviour are confronted. Hospitalisation is rarely required except for those at risk of
suicide (e.g. antisocial patients). 11 Lloyd M, Bor R. Communication Skills for Medicine. London: Churchill Livingstone,
1996: 135–7.
Medication has limitations but may be useful to treat those individuals who temporarily
decompensate into a psychosis, an anxiety state or depression. One study has shown that 12 Carr N. I just want some Valium, doc. Monash University update course. November 2013.
antipsychotic medication in low dosage (e.g. haloperidol 5 mg daily) is effective in treating the
problematic behaviours in paranoid and some antisocial personality disorders.23 13 Beaumont PJV, Hampshire RB. Textbook of Psychiatry. Melbourne: Blackwell Scientific
Publications, 1989: 283–4.
There are dangers to the therapist and it is important not to ‘buy into’ a particular psychopathy,
especially with seductive, manipulative or paranoid patients.15 14 Biro G. Suicide. Australian Doctor Weekly, 1991; 26 April: I–VIII.

15 Blumenthal S. Suicide—a guide to risk factors, assessment and treatment of suicidal

Patient education resources patients. Med Clin North Am, 1988; 72: 937–63.

Hand-out sheets from Murtagh’s Patient Education 8th edition: Page 858 16 Blumenthal SJ, Kupfer DJ. Generalised treatment strategies for suicidal behaviour. Annals
New York Academy of Sciences, 1986; 487: 327–40.
Anger management
17 Psychotropic [updated 2021]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Borderline personality disorder Guidelines Limited; 2021. www.tg.org.au, accessed April 2020.
Personality disorders 18 Papadakis MA et al. Current Medical Diagnosis and Treatment (52nd edn). New York:
The McGraw-Hill Companies, 2013: 1051–2.
Schizophrenia
19 Kupfer DJ (Chair). Diagnostic and Statistical Manual of Mental Disorder (5th edn).
References Washington DC: American Psychiatric Publishing, 2013.

20 Pullen I et al. Psychiatry and General Practice Today. London: RC Psych & RCGP, 1994:
1 O’Dowd TC. Five years of ‘heartsink’ patients in general practice. BMJ, 1988; 297: 528– 180–3.
30.
21 Kaplan R. Personality disorders: diagnoses and treatment. Medical Observer, 24 August
2 McWhinney I. A Textbook of Family Medicine. New York: Oxford, 1989: 96–8. 2001: 32–3.

3 Groves JE. Taking care of the hateful patient. N Engl J Med, 1978; 298: 883–7. 22 Jonason PK, Webster GD. The dirty dozen: a concise measure of the dark triad. Psychol
Assess, 2010; 22(2): 420–32.
4 Strous R, Ulman A, Kotler M. The hateful patient revisited: relevance for 21st century
medicine. Eur J Int Med, 2006; 17: 387–93. 23 Soloff PH et al. Progress in pharmacotherapy of borderline disorders: a double-blind study
of amitriptyline, haloperidol and placebo. Arch Gen Psychiatry, 1986; 43: 691–7. Page 859

Part 5 Chronic disease management
Page 860
72 Allergic disorders including hay fever
The nostril membrane is so irritable that light dust, contradiction, an absurd remark—anything
—sets me sneezing and I can be heard in Taunton with a favourable wind, a distance of six miles.
Turn your mind to this little curse. If consumption is too powerful for physicians, at least they
should not suffer themselves to be outwitted by such little upstart disorders as the hay fever.
SYDNEY SMITH, LETTER TO DR HOLLAND, 1835
Allergic disorders affect approximately 20% of the population. The clinical spectrum of allergic
disorders includes asthma, rhinitis, atopic dermatitis, drug allergy, food allergy, insect sting
allergy and anaphylaxis.1 The most common allergies are those associated with IgE-mediated
(immediate or type 1) hypersensitivity, such as allergic rhinoconjunctivitis (hay fever), atopic
dermatitis (eczema) and allergic asthma.2
Less commonly encountered but of increasing clinical importance in the community are IgE-
mediated allergies to foods such as peanuts and/or other nuts and seafoods (crustaceans or
molluscs), which may cause urticaria, angioedema, anaphylaxis and even death. Peanuts are one
of the most common causes of food-induced anaphylaxis in adults. A clinically significant cross-
reactivity between peanuts and other legumes is uncommon, but allergy to tree nuts such as
almonds and walnuts may occur in up to 50% of those with peanut allergy.1 Another special case
is the oral allergy syndrome, in which people with some degree of seasonal allergy to grass
pollens or birch pollen suffer oral itch and swelling when they come into contact with certain
fruits. This problem may be alleviated by desensitisation to pollens.1
Natural rubber latex allergy is an increasingly important cause of type 1 hypersensitivity,
affecting particularly medical and paramedical personnel, and patients who have had multiple
operations or procedures. Diagnosis is suggested by history and confirmed by specific skin tests
or the detection of serum-specific IgE. The development of urticaria on contact with latex is
highly suggestive of underlying type 1 hypersensitivity. An interesting association between latex
allergy and sensitivity to fruit occurs most commonly with banana, kiwifruit or avocado.1
Atopy
Atopy occurs in those 45% of the population who have an inherited tendency for an exaggerated
IgE antibody response to common environmental antigens.2 It is not a disease in itself. There will
be a positive response to one or more allergen skin-prick tests and usually a family history of
allergic disorders. Of those who are atopic, one-half to one-third manifest an allergic disorder,
most commonly allergic rhinitis, asthma, atopic dermatitis or allergic gastroenteropathy.
Common allergens causing immediate
hypersensitivity
It is helpful to consider important allergen exposure during history taking. TABLE 72.1 lists
sources of common allergens.
Table 72.1
Sources of common allergens1,2
Inhalants
Pollens, domestic animals, house dust mites, mould spores, cockroaches
Foods
Peanuts, fish, shellfish, milk, eggs, wheat
Other
Drugs, latex, insect venoms, occupational
Inhalant allergies
Allergic rhinoconjunctivitis and asthma are the main manifestations. The history provides a
strong pointer to the causative allergen. If symptoms are seasonal, pollen allergy is most likely;
perennial symptoms may indicate an allergy to dust mites, household pets or moulds. Certain
activities that precipitate symptoms may also provide a clue—these include mowing lawns,
dusting and vacuuming.
Food allergy and intolerance3
Food allergy usually manifests in infancy and childhood, with symptoms ranging from Page 861
severe urticarial-type reactions to gastrointestinal symptoms such as anorexia, nausea, vomiting
and spitting up of food, colic, diarrhoea and failure to thrive.
Commonly implicated foods include milk and other dairy products, eggs and peanuts. Other
foods include oranges, soy beans, nuts, chocolate, fish, shellfish and wheat.

The allergic reactions are not to be confused with non-immunological food intolerances such as
lactose intolerance.

A food intolerance is an adverse reaction to a specific food or food ingredient. It is regarded as a

food allergy if the reaction is immune based. Food allergies can be simply classified as:

immediate reactions—occurring within 2 hours

delayed reactions—occur up to 24 hours after ingestion

IgE-mediated food reactions3

These are immediate immune-mediated responses to a foreign glycoprotein which are relatively
easy to diagnose.

Clinical features
Typically in infants and toddlers

Usually occur within 30–60 minutes

Due to release of mast cell mediators

Produce flushing or blotchiness/pallor (if severe)

Itchy oropharynx

Itchy, runny nose and eyes

Wheeze

Dizziness and confusion

Urticaria—facial or generalised (see FIG. 72.1 )

FIGURE 72.1 Acute urticaria in a child caused by a sensitivity to aspirin

Feeling of intense fear (angor animi)

Angioedema of face and airway

 Vomiting, diarrhoea and abdominal colic (immediate or soon after) Uncommon after 3 years of age

± Anaphylaxis with wheezing, etc. Management

Death can occur (especially if asthma history) Elimination of suspected food, then formal food challenge
Big three foods—cow’s milk, egg, peanuts For milk protein intolerance first-line treatment is a formula containing cow’s milk protein
hydrolysate. Don’t use soy-based formulas under 6 months since many are also soy protein
Also: soy beans; fish, especially shellfish; wheat; tree nuts; various fruits and vegetables intolerant.
Cow’s milk can cross-react with goat’s milk and soy protein
Skin testing usually not helpful and may be risky
Frequently resolves by 3–5 years
Food protein-induced enterocolitis syndrome (FPIES)
In adults the foods are mainly peanuts, tree nuts, fish and shellfish
This is seen in young infants usually <6 months and is usually due to cow’s milk, soy or cereals.
Management It can be seen in breastfed infants and older children. A typical reaction is delayed onset of
projectile vomiting and protracted diarrhoea. The stool contains blood and eosinophils.
Page 862
Document diet, symptoms, past history, family history Treatment is with substance elimination.

Refer for specialist allergy advice

Food intolerances4
Provide patient education sheet
In general practice it is common to see a variety of food intolerances that are not immune
Advise avoidance of suspected food (allergic) or psychologically based. The food constituents represent an important group. The
intolerances can be grouped as:
IgE reactions investigated with skin testing
fructose intolerance from excessive ingestion of fruit juices and soft drinks
Consider provision of an adrenaline autoinjector
lactase deficiency from milk
Non-IgE-mediated food reactions3 histamine-related reactions from strawberries, tomatoes
These are less common and are usually delayed, occurring within 24–48 hours of food ingestion chemical triggers:
—but some reactions may be immediate. The real explanation is not clear. This includes cow’s
milk protein intolerance with both breast milk- and formula-fed infants. It affects 2% of infants aspirin, tartrazine, sodium metabisulphite—triggering rhinitis and asthma
under 2 years with most resolving by 2–3 years of age.
aspirin, tartrazine, benzoic acid—triggering chronic urticaria
Clinical features
others—salicylates (manufactured or natural), amines, preservatives and colourings
Gastrointestinal symptoms (e.g. vomiting, diarrhoea, abdominal colic)
Note:
May be malabsorption, weight loss, failure to thrive (rare)
foods with high-content natural salicylate include: dried fruits, pineapple, apricots, oranges,
Aggravation of atopic dermatitis cucumbers, grapes, honey, olives, tomato sauce, wines, tea, herbs

Severe reactions possible foods likely to contain tartrazine (food colouring) include: bottled sauces, cakes (from shops),
coloured fizzy drinks, fruit cordial, custard, coloured sweets, ice-cream and lollies, jam
Main foods—cow’s milk, soy proteins
Symptoms
Irritability, behavioural problems
Gastrointestinal (e.g. infant colic, diarrhoea, irritable bowel syndrome)
Respiratory—rhinitis, asthma
Headache/migraine
Management
Document diet, reactions, past/family history
Elimination diet and controlled food challenge
Referral for specialist allergy advice
Radioallergosorbent (RAST) testing is indicated where skin testing contraindicated
Peanut allergy
Peanuts are one of the most common causes of food-induced allergy including anaphylaxis in
adults. The diagnosis is confirmed by demonstration of peanut-specific IgE by either skin-prick
tests with peanut extract or RAST testing. Reaction to peanuts usually begins within minutes of
ingestion, the first symptoms being oropharyngeal itching or burning. Flushing, urticaria,
wheeze, stridor, angioedema and collapse may follow.5 The combination of peanut allergy and
asthma is dangerous, as evidenced by fatal or near-fatal reactions in young children.6 The key to
management is avoidance of peanut-containing foods. Desensitisation is currently not
recommended. Those at risk should carry an anaphylaxis kit (see TABLE 72.2 ).
Take immediately after adrenaline
Doses for children: 15–30 kg—150 mcg; 30 kg—300 mcg
Somewhat counterintuitively, recent studies have entirely reversed previous advice around
exposure to peanuts in infancy. The Australian Society of Clinical Immunology and Allergy
(ASCIA) recommends the early introduction of peanut butter/paste to infants, before 12 months.
The greatest benefit is actually to infants at higher risk; infants with severe eczema and/or egg
allergy can reduce their risk of developing peanut allergy by around 80%.7
Risk-minimisation strategies for food anaphylaxis1
Page 863
Achieve optimal asthma control (unstable asthma is the major risk factor)
Notify others: school, homes, restaurants
Carry treatment: action plan and adrenaline
‘Touch test’ food on external lip before consumption
Avoid skin preparations containing natural foods
Egg allergy
Previous advice was to avoid introducing potentially allergenic foods to babies. The evidence
now shows that babies who are given foods such as peanuts, eggs and seafoods in the first year
of life develop fewer allergies than babies where these foods are strictly avoided. The Australian
Society of Clinical Immunology and Allergy (ASCIA) has detailed information about
introducing foods on its website.8

Current vaccinations do not include egg; it is present in only minute amounts in the MMR
Table 72.2 Adult anaphylaxis kit2 vaccine.

Autoinjector 300 mcg adrenaline 1:1000 IM injection

Latex allergy
Inject into outer thigh muscle at first sign of swelling of throat or tongue, or other The clinical manifestations of type 1 hypersensitivity reactions to latex protein are wide-ranging,
reaction (e.g. breathlessness) from urticaria to life-threatening anaphylaxis and death. It is believed that some episodes of
intra-operative anaphylaxis are due to the patient—who has been sensitised to latex—reacting
Medihaler-Epi MDI (adrenaline metered aerosol spray)
after mucosal contact with gloves worn by operating staff. Many institutions now provide latex-
Spray 10–20 times in milder reactions only (e.g. local lip tingling or swelling) free operating suites in response to this serious problem.9
Oral antihistamines
Latex allergy is thus a significant problem for at-risk people, including health care workers,
e.g. 10 mg loratadine tablets (× 2) patients with spina bifida or other spinal cord abnormalities, and those who have had multiple
Take 1 tablet after adrenaline injection operations. The greatest risk is contact with ‘dipped’ rubber products (e.g. gloves, condoms,
Prednisolone 25 mg tablets (× 2) balloons). Some hard rubber products may not pose a risk.
Symptoms Drugs are used to alleviate symptoms where avoidance methods have failed or are impractical.
Examples include antihistamines (H1-receptor and H2-receptor antagonists), adrenaline
Contact dermatitis (type 4 hypersensitivity), urticaria, worsening atopic dermatitis, allergic (emergency use), sodium cromoglycate, corticosteroids, some anticholinergics and
rhinoconjunctivitis, asthma, allergy to multiple fruits and possibly anaphylaxis sympathomimetics.

Diagnosis Immunotherapy (desensitisation)

Skin-prick tests (dangerous and best left to experts) are more sensitive than blood tests at this
stage but carry a risk of anaphylaxis. Measurement of serum-specific IgE is safe although less
sensitive. Contact allergy (type 4) is identified by patch testing.
Management
Health care workers who are allergic can never again wear latex gloves.10
Tests for specific IgE
This involves repeated administration of small, increasing doses of allergen by subcutaneous
injection. This is the treatment of choice for severe wasp or bee venom allergy and for resistant
allergic rhinoconjunctivitis where a single causative allergen can be identified. Patients should be
observed for at least 45 minutes after each injection and adequate resuscitation facilities are
essential.
Management of specific allergic disorders
Asthma—see CHAPTER 73 Page 864

Atopic dermatitis—see CHAPTER 113

Skin-prick tests
Urticaria—see CHAPTER 112
This is the preferred method as results can be read at the first consultation, provided high-quality
allergen preparations are used. A positive test alone may be of no diagnostic significance if the Anaphylaxis and angioedema—see CHAPTER 120
patient is asymptomatic to the specific allergens. A negative test is very useful for excluding IgE-
mediated allergy.
Rhinitis
Detection of serum-specific IgE Refer to CHAPTER 48 .
A number of tests, including RAST tests1 and ELISA tests, measure allergen-specific IgE in the The classification of rhinitis can be summarised as:
serum. They are no more accurate than skin testing, are expensive and do not provide an
immediate result. seasonal allergic rhinoconjunctivitis = hay fever
Indications include: history and skin tests not matching, extensive eczema, dermographism, perennial rhinitis:
infants and very young children, immunotherapy work-up, antihistamine use in past 48 hours.
allergic (often due to house dust mites)
Management principles1 non-allergic = vasomotor: eosinophilic, non-eosinophilic

Allergen avoidance Allergic rhinitis10,11

If relevant from history and skin-prick testing, special attention should be paid to reducing
exposure to house dust mites and mould, to pet selection and specific food avoidance. Change of
occupation and environment may be necessary for some people.
Pharmacotherapy
Definition
Allergic rhinitis May be seasonal or perennial. It can be classified as either
intermittent (lasting for <4 days of the week or <4 weeks) or persistent (lasting >4
days of the week or >4 weeks).

The severity of symptoms is classified as either mild (normal function including sleep and only
slightly troublesome symptoms) or moderate/severe (troublesome symptoms with impairment of
activities).10 Its lifetime prevalence has increased worldwide, affecting 20% of the adult
population and up to 40% in children; 60% have a family history. It varies from 5–20% with a
peak prevalence in children and young adults up to 20%.12 The symptoms are caused by release
of powerful chemical mediators such as histamine, serotonin, prostaglandins and leukotrienes
from sensitised mast cells.12
Seasonal allergic rhinoconjunctivitis (hay fever)
This is the most common type of allergic rhinitis and is due to a specific allergic reaction of the
nasal mucosa, principally to pollens. The allergens responsible for perennial allergic rhinitis
include inhaled dust, dust mite, animal dander and fungal spores.
Most cases of hay fever begin in childhood with one-half of eventual cases having the problem
by the age of 15 and 90% by the age of 30.13 Approximately 20% suffer from asthma.
Avoidance therapy: avoid the allergen, if you know what it is (consider pets, feather pillows
and eiderdowns).
Sources of the house dust mite include bedding, upholstered furniture, fluffy toys and carpets.
Seek advice about significantly reducing the dust in your bedroom or home, especially if you
have perennial rhinitis.
Pets, especially cats, should be kept outside.
Avoid chemical irritants such as aspirin, smoke, cosmetics, paints and sprays.
Allergen avoidance
This is difficult during the spring pollen season, particularly where patients are living in high-
pollen (e.g. country farming) areas, or spending considerable time outdoors in the course of work
or sporting and recreational activities.
Treatment (pharmacological)10

While those with hay fever tend to have widespread itching (nose, throat and eyes), those with Therapy can be chosen from:
perennial rhinitis rarely have eye or throat symptoms but mainly sneezing and watery
rhinorrhoea. Nasal polyps are associated with this disorder (refer to CHAPTER 48 ). 1. antihistamines:

oral (not so effective for vasomotor rhinitis)

Management
intranasal spray (rapid action)
Management consists of four main areas:
ophthalmic drops
1. appropriate explanation and reassurance
2. decongestants (oral or topical)
2. allergen avoidance
3. sodium cromoglycate Page 865
3. pharmacological treatment
intranasal: powder insufflation or spray
4. immunotherapy
ophthalmic drops for associated conjunctivitis
Intranasal corticosteroids which reduce inflammation and nasal secretions are first-line treatment
for moderate to severe cases.14 4. corticosteroids

Advice to patients intranasal (not so effective for non-eosinophilic vasomotor rhinitis)

Keep healthy, eat a well-balanced diet, avoid ‘junk food’ and live sensibly with balanced oral (very effective if other methods fail)
exercise, rest and recreation. If your eyes give you problems, try not to rub them, avoid contact
lenses and wear sunglasses. ophthalmic drops for allergic conjunctivitis

Avoid using decongestant nose drops and sprays: although they soothe at first, a worse effect Immunotherapy
occurs on the rebound.
Consider hyposensitisation/immunotherapy when specific allergens are known (very important)
and conventional response is inadequate. Immunotherapy to grass pollen is generally very with intranasal corticosteroids (where the onset of action is delayed several days), improving
effective and should be considered in moderate to severe springtime hay fever. Immunotherapy nasal patency and allowing more complete insufflation of the corticosteroids. Adverse reactions
by injection or oral administration can be labour-intensive, often taking years. similar to those of oral decongestants may occur.

Antihistamines
Oral antihistamines are the first line of treatment for seasonal hay fever and are generally
effective where symptoms are intermittent, or when used prophylactically before periods of high
pollen exposure. The newer ‘non-sedating’ antihistamines that do not cross the blood–brain
barrier are used in preference to the first-generation drugs, although some degree of sedation may
occur even with these. A list of non-sedating antihistamines is presented in TABLE 72.3 . It is
claimed by some that the newer topical preparations (levocabastine and azelastine), as intranasal
sprays, are rapidly effective for an exacerbation of symptoms. If sedation is desirable (e.g.
overnight), a sedating antihistamine can be used.
Intranasal sodium cromoglycate acts by preventing mast cell degranulation and is effective
without serious side effects. The capsule variety must be used (the spray form requires 1–2
hourly dosage to be effective); it is useful in perennial allergic rhinitis but is not as effective as
intranasal corticosteroids for springtime hay fever.
Intranasal corticosteroid sprays are the most effective agents for treating seasonal allergic
rhinitis. Side effects are minimal and adrenal suppression is not a problem with normal usage.
Patients should be informed that these medications will not give immediate relief (often taking
10–14 days to have peak effect) and must be used continuously throughout the hay fever season
for at least 6–8 weeks. Local side effects include dryness and mild epistaxis.

Intranasal antihistamines group—includes azelastine and levocabastine—are effective at

relieving itching and sneezing.
Table 72.3 Non-sedating antihistamines (oral
TABLE 72.4 lists intranasal preparations for rhinitis.
regimens)

Generic name Onset Adult dosage

Table 72.4 Intranasal preparations for rhinitis
Cetirizine Rapid 10 mg daily
Desloratadine Very rapid 5 mg daily
Brand name Dosage Comments
Fexofenadine Rapid 60 mg bd
Sodium Rynacrom Insufflate 1 Compliance a
Loratadine Very rapid 10 mg daily cromoglycate powder capsule, qid problem
(capsules) 2%
Rynacrom Spray 4–6
Oral decongestants nasal times daily 4%
spray
Oral sympathomimetics, either used alone or in combination with antihistamines (where they
may help reduce drowsiness), may be of some value, particularly where nasal discharge and Spray 2–4
stuffiness are major symptoms. Side effects include nervousness and insomnia. They should be times daily
used cautiously in patients with hypertension, heart disease, hyperthyroidism, glaucoma and Beclomethasone Beconase 100 mcg spray
prostatic hypertrophy. dipropionate Hayfever each nostril bd
50 mcg/spray or tds
Examples:
Budesonide Budamax 1–2 sprays
pseudoephedrine HCl 60 mg (o) tds (max. 240 mg/day), or 120 mg controlled release (o) bd 64 mcg/spray nasal each nostril
daily
Intranasal therapy10,11 Rhinocort
nasal
Intranasal decongestants should be used for limited periods only (i.e. less than a week) or
Ciclesonide Alvesco, 2 sprays each
intermittently (3–4 doses per week) because of the potential problems with rebound congestion
50 mcg/spray Omnaris nostril daily
and rhinitis medicamentosa. They are often of particular value during the first week of treatment
 Fluticasone Avamys 2 sprays each Other treatments
furoate nostril daily,
27.5 mcg/spray reducing to 1 Corticosteroids (oral)
spray
Page 866
Fluticasone Beconase 2 sprays each These can be very effective where other treatments or methods have failed. A 6–10-day
propionate Allergy 24 nostril daily, short course can be used. An example of a 6-day ‘rescue course’ is prednisolone 25, 25, 20, 15,
50 mcg/spray hour reducing to 1 10, 5 mg daily doses.
aqueous spray
Mometasone Nasonex 2 sprays per Ipratropium bromide (Atrovent)15
furoate 50 nostril daily
The nasal preparation of this topical anticholinergic is often very effective when rhinorrhoea is
mcg/spray
the major problem.
Triamcinolone Telnase 2 sprays each
55 mcg/spray nostril daily, Leukotriene receptor antagonist
reducing to 1
spray Regarded as equivalent to oral antihistamines, they have a place in the management of children
Ipratropium Atrovent 1–2 sprays per Useful for with concurrent asthma and hay fever (e.g. montelukast).
bromide nostril tds prn vasomotor rhinitis
and profuse Surgery
rhinorrhoea
Inferior turbinate reduction aims to reduce the size of turbinates and so reduce nasal obstruction
Care needed with when congested.
elderly
Azelastine Azep 1 spray each Antihistamine Guidelines from elite task force16
nostril bd
1. For initial treatment of seasonal allergic rhinitis in people aged 12 or older, routinely prescribe
Levocabastine Livostin 2 sprays each Antihistamine, monotherapy with an intranasal corticosteroid rather than an intranasal corticosteroid in
0.05% nostril bd max. 8 weeks
combination with an oral antihistamine.

Various 2, 3 or 4 times Short-term use 2. For initial treatment of seasonal allergic rhinitis in those aged 15 or more, recommend an
sympathomimetics daily (max. 7 only intranasal corticosteroid over a leukotriene receptor antagonist.
(e.g. days) Care with
phenylephrine) elderly, prostatic 3. For treatment of moderate to severe seasonal allergic rhinitis in people 12 or older, you may
hypertrophy recommend the combination of an intranasal corticosteroid and an intranasal antihistamine
initially.

TABLE 72.5 summarises recommended steps in management.

Ophthalmic preparations

Sodium cromoglycate eyedrops are usually very effective for springtime conjunctivitis. They can Table 72.5 Summary of recommended treatment steps for allergic
be used as necessary (no dosage limit) and are most helpful when used prophylactically before rhinitis10
periods of high pollen exposure. Decongestant eyedrops may also be helpful (care with narrow
angle glaucoma), while corticosteroid eyedrops are reserved for resistant allergic conjunctivitis
and should be used with care to exclude infection and glaucoma. Antihistamine eyedrops Patient education
antazoline and levocabastine are yet another option. Allergen avoidance (if possible)
Mild cases:
 less-sedating? antihistamines including levocabastine nasal spray ± Thomson K, Tey D, Marks M. Paediatric Handbook (8th edn). Oxford: Wiley-Blackwell,
decongestant (e.g. pseudoephedrine) 3 2009: 229–32.
Moderate to severe (persistent):
4 Joshi P. Does my child have a food allergy? MedicineToday, Jan 2011; 12(1): 20–5.
intranasal corticosteroids (as preventer—the most effective)
sodium cromoglycate (Opticrom) eyedrops 5 Douglas R, O’Hehir R. Peanut allergy. Med J Aust, 1997; 166: 63–4.
oral corticosteroids (if topicals ineffective)
6 Sampson HA, Mendelson L, Rosen JP. Fatal and near fatal anaphylactic reactions to food
immunotherapy if applicable in children and adolescents. N Engl J Med, 1992; 327: 380–4.

7 ASCIA. Guide for introduction of peanut to infants with severe eczema and/or food
allergy. Information for Health Professionals. Australasian Society of Clinical
When to refer Immunology and Allergy. Available from:
https://www.allergy.org.au/images/stories/pospapers/ASCIA_HP_guide_introduction_pea
Where surgical intervention is required, such as with nasal obstruction from polyps, bulky nut_infants_2017.pdf, accessed April 2021.
nasal turbinates and deviated septum
8 ASCIA. How to introduce solid foods to babies for allergy prevention—frequently asked
For immunotherapy questions. Australasian Society of Clinical Immunology and Allergy. Available from:
www.allergy.org.au/patients/allergy-prevention/ascia-how-to-introduce-solid-foods-to-
Page 867 babies, accessed March 2021.

Practice tips
Avoid long-term use of topical decongestant nasal drops.
Avoid topical antihistamine preparations.
Prescribe sodium cromoglycate eyedrops for the hay fever patient with itchy eyes.
Be careful of severe systemic reactions that can occur with intradermal skin
testing and with immunotherapy. Resuscitation facilities should be available.
9 Katelaris CH et al. Prevalence of latex allergy in a dental school. Med J Aust, 1996; 164:
711–14.
10 Walls RS. Latex allergy: a real problem. Med J Aust, 1996; 164: 707.
11 Respiratory [published 2020]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed March 2021.
12 Baumgart K. Allergic rhinitis: update. Medical Observer, 28 September 2012: 28–30.
13 Scoppa J. Rhinitis (allergic and vasomotor). In: MIMS Disease Index (2nd edn). Sydney:
IMS Publishing, 1996: 450–1.

14 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines

Resource Handbook Pty Ltd, 2016: 391–2.

Australasian Society of Clinical Immunology and Allergy: www.allergy.org.au 15 Fry J. Common Diseases (4th edn). Lancaster: MTP Press, 1985: 134–8.

16 Wallace DV et al. Pharmacological treatment of seasonal allergic rhinitis: synopsis of

References guidance from the 2017 joint task force on practice parameters. Ann Internal Med, 19
December 2017; 167(12): 876–81.
1 O’Hehir R. Update in allergic diseases. In: Update Course for GPs Handbook. Melbourne:
Monash University, 2017 (available on request).

2 Loblay RH. Allergies (type 1). In: MIMS Disease Index (2nd edn). Sydney: IMS
Publishing, 1996: 12–15.
 Page 868 About one adult in eight has or has had asthma.

The focus of management should be on prevention; an acute asthmatic attack

represents failed treatment.

Measurement of function is vital as ‘objective measurement is superior to

73 Asthma subjective measurement’.

Spirometry is the key investigation.

Inhaled corticosteroids are the cornerstone of asthma treatment.

After I’d written to you yesterday I had an attack of asthma and an incessantly running nose,
which forced me to tramp about, lighting cigarettes at every tobacconist etc. And worse was to
come: I went to bed about midnight, feeling all right after spending a long time inhaling smoke,
but 3 or 4 hours later came the real attack of the summer.
MARCEL PROUST, LETTER TO HIS MOTHER, 1901
Medicines should be prescribed at the lowest strength that works. Patients
should not be left on combination or high-dose inhalers without regular review.
Avoid concomitant medication that may exacerbate asthma (e.g. beta blockers,
aspirin, NSAIDs).

Asthma, which is an inflammatory disorder, is defined by the presence of both of the following:1 Pathophysiology1
excessive variation in lung function (‘variable airflow limitation’, i.e. variation in expiratory Chronic asthma is an inflammatory disease with the following pathological characteristics:
airflow that is greater than that seen in healthy people)
infiltration of the mucosa with inflammatory cells (especially eosinophils) and cellular
respiratory symptoms (e.g. wheeze, shortness of breath, cough, chest tightness) that vary over elements
time and may be present or absent at any point in time
airway hyper-responsiveness5
In young children in whom lung function testing is not feasible, including most preschool
children, asthma is defined by the presence of variable respiratory symptoms. intermittent airway narrowing (due to bronchoconstriction, congestion or oedema of bronchial
mucosa or a combination of these) (see FIG. 73.1 )

Key facts and checkpoints

Asthma continues to be underdiagnosed and undertreated.2 It is increasing
worldwide.

It has an unacceptable mortality rate: 421 deaths in Australia in 2019.3

One child in nine (age 0–14 years) reports having asthma (usually in a mild
form).4

It tends to develop between the ages of 2 and 7 years, but can develop at any
age.

Most children present with a cough.

Most children are free from it by puberty.

 FIGURE 73.1 Airway changes in asthma: (a) normal airway, (b) airway in worse at night or early morning
asthma
history of allergies

Causes of asthma family history of asthma or allergies

widespread audible wheeze on chest auscultation

No single cause for asthma has been found, but a variety of factors may trigger an attack. These
include specific factors such as viruses, allergens and non-specific factors such as temperature or symptoms rapidly relieved by a short-acting beta agonist bronchodilator (SABA)
weather changes and exercise. A checklist of trigger factors includes:
Note: Asthma should be suspected in children with recurrent nocturnal cough and in people with
A allergens—pollens, animal dander, dust mites, mould intermittent dyspnoea or chest tightness, especially after exercise.
B bronchial infection
C cold air, exercise Severe symptoms and signs are presented in the section on dangerous asthma later in this
D drugs—aspirin, NSAIDs, beta blockers chapter.
E emotion, psychosocial problems—stress, laughter
F food—sodium metabisulphate, seafood, nuts, monosodium glutamate
G gastro-oesophageal reflux
Examination6
H hormones—pregnancy, menstruation
Physical signs may be present if the patient has symptoms at the time of examination.
I irritants—smoke, perfumes, smells
J job—wood dust, flour dust, isocyanates, animals The absence of physical signs does not exclude a diagnosis of asthma as the chest examination
may be normal between attacks. During an attack, auscultation usually reveals diffuse, high-
pitched wheezes throughout inspiration and most of expiration, which is usually prolonged. If
Additional points wheeze is not present during normal tidal breathing it may become apparent during a forced
expiration or after asking the child to exercise for 1–2 minutes. Wheeze does not necessarily
Patients with asthma must never smoke. Page 869 indicate asthma.

Atopic patients should avoid exposure to furred or feathered domestic animals if they have Absence of wheeze in a breathless person is a serious sign.
problems.
Investigations
About 90% of children with atopic symptoms and asthma demonstrate positive skin-prick
responses to dust mite extract. Total eradication of house dust mite from the home is difficult. Spirometry: a value of <75% for FEV1/VC ratio indicates obstruction (a relatively accurate
test and recommended for those who can perform it, i.e. most adults and children >6 years; see
Clinical features CHAPTER 38 )

The classic symptoms are: Measurement of peak expiratory flow rate (PEFR) or spirometry before and after SABA: has a
characteristic improvement >15% in FEV1 and PEFR
wheezing
Bronchial provocation tests: airway reactivity is tested in a respiratory laboratory to inhaled
coughing (chronic, esp. at night) histamine, methacholine or hypertonic saline (rarely required, but sometimes useful to confirm
diagnosis)
tightness in the chest
Fractional exhaled nitric oxide test
breathlessness
An exercise challenge may also be helpful
Asthma is likely if more than one of the above is present. Other supporting features:
Allergy testing may be appropriate
symptoms recurrent or seasonal
 Chest X-ray: not routine but useful if complications suspected or symptoms not explained by recommend obtaining a mini peak flow meter
asthma recommend obtaining a spacer
Medical factors:
Page 870
obesity
rhinosinusitis
Significant historical advances in asthma management GORD
sleep apnoea
1. The realisation that asthma is an inflammatory disease—the appropriate first- or vocal cord dysfunction
second-line treatment in moderate to severe asthma is inhaled sodium
cromoglycate (especially in children) or inhaled corticosteroids (ICS) smoking/COPD

2. The regular use of spirometry

3. The use of spacers attached to inhalers/puffers
4. Improved and more efficient inhalers
5. Combined long-acting relievers and preventers including combinations of long-
acting beta agonists (LABA) and ICS—the fixed-dose inhalers
Measurement of peak expiratory flow rate
Patients with moderate to severe chronic asthma require regular measurement of PEFR, which is
more useful than subjective symptoms in assessing asthma control. This allows the establishment
of a baseline of the ‘best effort’, monitors changes and allows the assessment of asthma severity
and response to treatment.

Spirometry including FEV1 is the gold standard (see CHAPTER 38 ). Peak flow meters are not a
Reasons for suboptimal asthma control are presented in TABLE 73.1 .
substitute for spirometry, as there is considerable variation between users and instruments.
However, PEFR has a place in helping patients self-manage their asthma by comparing the
Table 73.1 current result with their best peak flow.
Reasons for suboptimal asthma control2,4
Spacers7
Poor compliance
Inefficient use of inhaler devices—poor technique
Procrastination in introducing optimal therapy
Large volume spacers
Failure to prescribe preventive medications, particularly inhaled corticosteroids, for Metered dose inhalers (MDIs) are convenient, but usually deliver less drug to the lungs than
chronic asthma when a spacer is fitted onto the mouthpiece of the inhaler. One puff at a time is put in the spacer.
Using bronchodilators alone and repeating these drugs without proper evaluation The patient breathes in from its mouthpiece, taking 1–2 very deep breaths, or 4–6 normal breaths
Reliance on inappropriate alternative therapies (especially in children). Spacers are particularly useful for adults having trouble with the MDI
and for younger children (but older than 3 years). Spacers are very efficient, overcome poor
Patient fears: technique and cause less irritation of the mouth and throat (see FIG. 73.2 ).
concerns about corticosteroids
overdosage
developing tolerance
embarrassment
peer group condemnation
Doctor’s reluctance to:
use corticosteroids
 Severity/grade Status before FEV1 or Recommended ICS required to
treatment PEFR (% β2-agonist achieve good
predicted) control

Intermittent Episodic ≥80% SABA prn Regular ICS not

Symptoms < required
weekly Add preventer if
Night ≥3 uses of
symptoms <2 SABA/week
per month
Mild
occasional
symptoms
with exercise
Mild Symptoms > ≥80% SABA prn <250 mcg
FIGURE 73.2 Using a spacer device. Rules: children—single puff, then 4–5 persistent weekly, not beclomethasone
breaths; adults—single puff, 1–4 breaths. every day <400 mcg
Night budesonide
They allow increased airway deposition of inhalant and less oropharyngeal deposition.
symptoms >2 <250 mcg
Note: It is recommended to dip plastic spacers into water with ordinary household detergent and per month fluticasone
dry in sunlight (no rinsing, no wiping) every 10 days or at least monthly. Symptoms <160 mcg
regularly with ciclesonide
exercise
Small volume spacers Increase dose if
>2 SABA 2–3
Children under 5–6 years and/or 20 kg can use an MDI and a small volume valved spacer times daily
(AeroChamber, Breath-A-Tech) with a face mask.
Moderate Symptoms 60– LABA 250–400 mcg
persistent every day 80% + beclomethasone
Management principles Night SABA prn 400–800 mcg
symptoms budesonide
Page 871 > weekly 250–500 mcg
Starting treatment1 Several fluticasone
known 160–320 mcg
Confirm the diagnosis. triggers apart ciclesonide
from exercise
Assess recent asthma control and risk factors (see TABLE 73.2 ).
Severe Symptoms <60% LABA >400 mcg
persistent every day + beclomethasone
Table 73.2 Asthma severity classification for an untreated newly diagnosed Wakes SABA prn >800 mcg
frequently at budesonide
adult with asthma8 night with >500 mcg
cough/wheeze fluticasone
Lung Estimated starting Chest >320 mcg
function daily dose range of tightness on ciclesonide
 tightness on ciclesonide
No nocturnal waking due to asthma
waking
Limitation of No limitation of normal activity or exercise
physical
activity Minimal need for reliever medication

No exacerbations

Normal or near-normal lung function (FEV1 and/or PEFR >80% of predicted or best)
If moderately severe inflammatory airways disease is not treated (with inhaled corticosteroids)
there is the risk of fixed irreversible airways obstruction from submucosal fibrosis. No side effects of medication
Choose initial treatment appropriate to the above.
Questions to assess asthma control1
Avoid the use of LABA on its own (i.e. without ICS), as it is associated with an increased risk
of asthma death. Ask about:

Document evidence in notes. limitation of daily activities

Identify management goals in collaboration. shortness of breath

Provide clear written patient information. sleep disturbance

Educate and review regularly. use of reliever medication

Goals of management: perceived level of asthma control

absent or minimal daytime symptoms and no nocturnal symptoms; restore normal airway
function (>80% of predicted) Pharmacological agents to treat asthma
maintain best possible lung function at all times—keep asthma under control

reduce morbidity Simple classification

control asthma with the use of regular anti-inflammatory medication and relieving doses of β2- Reliever = bronchodilator
agonist when necessary
Preventer = anti-inflammatory
Long-term goals:
Symptom controller = long-acting β2-agonist (LABA)
achieve use of the least drugs, least doses and least side effects

reduce risk of fatal attacks Page 872

It is useful to teach patients the concept of the ‘preventer’ and the ‘reliever’ for their asthma
treatment. The pharmacological treatment of asthma is summarised in TABLE 73.3 .
reduce risk of developing irreversible abnormal lung function

Good asthma control

8
Pharmacological treatment of asthma
Minimal symptoms day and night
 Vehicle of
administration
Aerosol
Nebulising (metered
Dry ‘Preventer’ drugs: anti-inflammatory agents8
Generic types Examples Oral powder Injection
solution dose
(inhalation) These medications are directed towards the underlying abnormalities—bronchial hyper-reactivity
inhalation)
and associated airway inflammation. Treatment with a ‘preventer’ is recommended if asthma
episodes are >3/week or those who use SABA >3 times a week.
Salbutamol Ventolin ✓ ✓ ✓ ✓ ✓
Corticosteroids
Salmeterol Serevent ✓ ✓
Terbutaline Bricanyl ✓ ✓ ✓ ✓ Inhaled (ICS)
Eformoterol Foradile, ✓ Types:
Oxis
Indacaterol Onbrez beclomethasone
Adrenaline ✓ budesonide
Ipratropium Atrovent ✓ ✓
bromide ciclesonide (single daily dose)

Theophylline Nuelin ✓ fluticasone

Aminophylline ✓ Dose range:

microgram ranges differ according to drug; aim for lowest effective dose
Sodium Intal ✓ ✓ ✓
cromoglycate ✓ Availability:

Nedocromil Tilade ✓ MDI

sodium
Turbuhaler

Autohaler
Beclomethasone QVAR ✓ ✓
Budesonide Pulmicort ✓ ✓ ✓ Accuhaler
Ciclesonide Alvesco ✓ Frequency:
Fluticasone Flixotide ✓ ✓ ✓
once or twice daily (adherence may be greater with once daily)
BA) + preventer (ICS)—fixed combination MDI
(Seretide) ✓ ✓ Side effects:
(Flutiform) ✓ oropharyngeal candidiasis, dysphonia (hoarse voice)—less risk with once daily ciclesonide
e (Symbicort) ✓ ✓
bronchial irritation: cough
Breo ellipta) ✓
✓ adrenal suppression (doses of 2000 mcg/daily; sometimes as low as 800 mcg)
Note: Rinse mouth with water and spit out after using inhaled steroids.
ICSS have a flat dose–response curve so there are diminishing returns in prescribing above
beclomethasone or budesonide 1000 mcg/day or fluticasone 500 mcg/day. For newly diagnosed
patients with mild-to-moderate asthma ‘start low and step up prn’ (e.g. 250–400 mcg/day).6 Step
down the dose when safe to do so.
Note: Most adults and older adolescents with asthma should be on long-term inhaled
corticosteroid therapy.1
Oral
Prednisolone is used mainly for exacerbations. It is given with the usual inhaled corticosteroids
and bronchodilators.
Dose:
up to 1 mg/kg/day (usual max. 50 mg) for 3 days to 2 weeks
Side effects:
these are minimal if drug is used for short periods
long-term use has significant side effects: osteoporosis, glucose intolerance, adrenal
suppression, thinning of skin and easy bruising
Note: Short-term oral corticosteroids can be ceased abruptly without tapering. Clinical trials are
tending to favour shorter courses.
Cromones
These are sodium cromoglycate (SCG) and nedocromil sodium. SCG is available as dry Page 873
capsules for inhalation, metered dose aerosols and a nebuliser solution. They are often inhaled
via a spacer in children. Adverse effects are uncommon; local irritation may be caused by the dry
powder. Systemic effects do not occur.
Nedocromil is used for frequent episodic asthma in children over 2 years of age for the
prevention of exercise-induced asthma and the treatment of mild-to-moderate asthma in some
adults. The initial dose is 2 inhalations qid. Adverse effects are uncommon.
Leukotriene antagonists
Page 874
These drugs (in Australia, primarily montelukast) are very useful for seasonal asthma
and aspirin-sensitive asthma and reduce the need for inhaled steroids or offer an alternative for
those who cannot tolerate ICSS or have trouble using an inhaler. Favourable evidence is based
on a small number of trials only, mostly in children but some adults benefit.9 Montelukast is
taken as a 5 or 10 mg chewable tablet once daily.
Indications for preventive therapy10
Guidelines for introducing preventive asthma therapy in adults and children include any of the
following:
requirement of β2-agonist >2 days per week or >1 canister every 3 months (excluding pre-
exercise)
symptoms (non-exercise) >2 times per week between attacks
any symptoms during the night or on waking
spirometry showing reversible airflow obstruction during asymptomatic phases
asthma significantly interfering with physical activity despite appropriate pre-treatment
asthma attacks ≥twice per month
infrequent asthma attacks but severe or life-threatening
‘Reliever’ drugs or bronchodilators
The three groups of bronchodilators are:
the β2-adrenoceptor agonists (β2-agonists)—short acting (SABA) and long acting (LABA)
methylxanthines—theophylline derivatives
anticholinergics
β2-agonists
These drugs stimulate the β2 adrenoreceptors and thus relax bronchial smooth muscle. Inhalation
is the preferred route of delivery; the vehicles of administration include metered dose inhalation,
a dry powder, and nebulisation where the solution is converted to a mist of small droplets by a
flow of oxygen or air through the solution.
Oral administration of β2-agonists is not recommended. The inhaled drugs produce measurable
bronchodilation in 1–2 minutes and peak effects by 10–20 minutes. The traditional agents such
as salbutamol and terbutaline are short-acting preparations. The new longer-acting agents
(LABA) include salmeterol, eformoterol and vilanterol.
LABAs should always be used in combination with an ICS, not as monotherapy.11
Theophylline derivatives
These oral drugs may have complementary value to the inhaled agents but tend to be limited by The National Asthma Council of Australia has developed the following follow-up plan,
side effects and efficacy. summarised in FIGURE 73.3 .

Anti-IgE monoclonal antibodies

These newer agents (e.g. omalizumab) bind IgE without activating mast cells. They are directed
for use in patients >12 years of age with moderate to severe allergic eosinophilic asthma who
have been treated by ICS and who have raised serum IgE levels. They are given by SC injection
and the PBS stipulates specialist initiation.

Antibiotic use for chronic asthma12

Antibiotics are not recommended apart from clinical evidence of super-respiratory infection.
Trials of daily oral azithromycin have provided weak evidence of possible benefit in reducing
exacerbations of asthma and COPD, but this has not been recommended in clinical practice.13

Starting treatment
Current treatment supports the initial treatment (summarised in TABLE 73.2 ) of a SABA with
low to moderate doses of ICS with estimated equivalent doses shown in the table.

Initiate therapy sufficient to achieve best lung function promptly.

Wean inhaled corticosteroids to the minimum dose needed to maintain adequate asthma control.

FIGURE 73.3 Asthma: ongoing management steps

Prophylactic agents
Source: Reproduced with permission from NPS Medicine Wise
This term is reserved for those medications that are taken prior to known trigger factors,
particularly for exercise-induced asthma. Step 1: Assess asthma symptom control and identify the patient’s risk factors.

Exercise-induced asthma (options) Assess asthma symptom control over the previous 4 weeks.

β2-agonist inhaler (puffer): two puffs 5 minutes immediately before exercise last 1–2 hours. Assess the patient’s risk factors. Page 875
LABA such as salmeterol and eformoterol are more effective if used with ICS.
Exclude factors contributing to poor control before intensifying preventer treatment:
SCG or nedocromil, two puffs
check adherence
Combination β2-agonist + SCG (5–10 minutes beforehand)
check inhaler technique
Montelukast 10 mg (less in children ≥2 years) oral daily or 1–2 hours beforehand check inhaler device is appropriate
Paediatricians often recommend a non-drug warm-up program as an alternative to medication. consider that symptoms may be due to alternative or comorbid diagnoses

Ongoing management Step 2: Treat and adjust to achieve good control.

All patients should have a reliever inhaler for as-needed use.

The three-step asthma control plan14,15
 Most can achieve well-controlled asthma with low-dose ICS.

Trial low-dose ICS before ICS/LABA fixed combination therapy.16

Reserve ICS/LABA as a later option. This combination is too readily used in Australia.

Where appropriate, step down treatment.

Schedule follow-up visit.

See TABLE 73.3 .

Step 3: Review response and monitor to maintain control.

Review diagnosis and treatment regularly.

Monitor to maintain control.

A general management plan for chronic asthma is summarised in FIGURE 73.4 .

FIGURE 73.4 Stepped approach to adjusting asthma medication in adults

This figure comes from the National Asthma Foundation Australia and is based on Australian Treatment Standards and medications
available in Australia and not designed or intended for international use.

Practice tips
For breakthrough asthma or persistent poorly controlled asthma with poor
compliance switch to combined medication (e.g. Seretide MDI Accuhaler or
Symbicort).

Correct use of the asthma MDI (puffer)

Did you know that:
 faulty inhaler technique occurs in at least one-third of users?
in faulty technique, up to 90% of the medication sticks to the mouth and does not reach the
lungs?
it is the inhalation effort—not the pressure from the aerosol—that gets the medication to the
lungs?
it is important to instruct patients properly and check their technique regularly?
The two main techniques
The open-mouth technique and the closed-mouth technique are the main methods, and both are
effective but the closed-mouth technique is preferred. Both techniques are suitable for most
adults. Most children from the age of 7 can learn to use puffers quite well.
The closed-mouth technique
See FIGURE 73.5 . The usual dose of standard MDI is one or two puffs (adult) every 3–4 hours for an attack (four
FIGURE 73.5 Using the metered dose inhaler: the closed-mouth technique
Instructions for patients:
1. Remove the cap. Shake the puffer vigorously for 1–2 seconds. Hold it upright (canister on
top).
2. Place the mouthpiece between your teeth (do not bite it) and close your lips around it.
3. Breathe out slowly and gently to a comfortable level. Page 876
4. Tilt your head back slightly with your chin up.
5. Just as you then start to breathe in (slowly) through your mouth, press the puffer firmly, once.
Breathe in as far as you can over 3–5 seconds. (Do not breathe in through your nose.)
6. Remove the puffer from your mouth and hold your breath for about 10 seconds; then breathe
out gently.
7. Breathe normally and then repeat the inhalation if you need to.
Extra points
puffs in children).
If you do not get adequate relief from your normal dose, contact your doctor.
It is quite safe to increase the dose, such as to 4–6 puffs.
If you are using your inhaler very often, it usually means your other asthma medication is not
being used properly.
Autohaler
The Autohaler is a breath-activated MDI which can improve lung deposition in patients with
poor inhaler technique.
Turbuhaler
The Turbuhaler is a dry powder delivery system that is widely used as an alternative to the MDI.
It is a breath-activated device.
Other dry powder devices are the Accuhaler and Diskhaler.
Spacers versus nebulisers
Both MDIs via a spacer and dry powder inhalers are at least as effective as a nebuliser for
treating acute exacerbations in both adults and children.17 They are considerably cheaper and
more readily available than an electrically powered device.
 Summary of devices increasing medication requirements

sleep being disturbed by coughing, wheezing or breathlessness

Breath-activated MDIs: Autohaler
chest tightness on waking in the morning
Breath-activated dry powder inhalers: Accuhaler, Aerolizer, Diskhaler, Rotahaler,
Spinhaler, Turbuhaler low PEFR readings
Large volume spacer: Nebuhaler, Volumatic
Thunderstorm asthma18
Small volume spacer: Aerochamber, Breath-A-Tech
A likely mechanism is that this occurs when the high winds preceding a storm whip up Page 877
massive quantities of rye grass pollens which absorb moisture and rupture, releasing allergens.
People most vulnerable to an asthma attack are those with a history of allergy and poorly
Dangerous asthma controlled asthma in particular. When an attack is imminent, at-risk people should stay inside
with windows and doors closed, take preventer medication, follow action plans and ensure
Failure to recognise the development of a severe attack has cost the lives of many asthmatics. A reliever drugs are readily available. Treatment is with a salbutamol spray followed by
severe attack can start suddenly (even in mild asthmatics) and catch people by surprise. corticosteroids.

Seasonal allergic rhinitis patients not on constant intranasal corticosteroids (INCS) should start
High-risk patients taking these before the pollen season and continue until pollen levels abate. For those with
asthma include a combination of an INCS and intranasal antihistamine if symptoms are severe or
People who have experienced one or more of the following are more likely to have severe
not controlled by INCS alone.1
attacks:

previous severe asthma attack Dangerous signs

previous hospital admission, especially admission to intensive care Marked breathlessness, especially at rest

hospital attendance in the past 12 months Sleep being greatly disturbed by asthma

long-term oral steroid treatment Asthma getting worse quickly rather than slowly, despite medication

carelessness with taking medication Feeling frightened

night-time attacks, especially with severe chest tightness Difficulty in speaking; unable to say more than a few words

recent emotional problems Pulsus paradoxus

frequent SABA use Exhaustion and sleep deprivation

Early warning signs of a severe asthma attack: Drowsiness or confusion

symptoms persisting or getting worse despite adequate medication Chest becoming ‘silent’ with a quiet wheeze, yet breathing still laboured

increased coughing and chest tightness Cyanosis

poor response to two inhalations Chest retraction

benefit from inhalations not lasting 2 hours Respiratory rate greater than 25 (adults) or 50 (children)
 Pulse rate >120 beats/min spacer after each puff

Peak flow <100 L/min or <40% predicted FEV1 3. Wait 4 minutes. If there is no improvement, take another 4 puffs. (The 4 × 4 × 4
rule)
Oximetry on presentation (SaO2) <90%
4. If little or no improvement CALL AN AMBULANCE IMMEDIATELY (dial 000) and
state that you are having an asthma attack. Keep taking 4 puffs every 4 minutes
Asthma action plans until the ambulance arrives.
Examples of action plans for patients are presented below. Having a written asthma action plan See your doctor immediately after a serious asthma attack.
as part of self-management reduces asthma-related mortality and morbidity.19

Action plan
The acute severe asthma attack
If you are distressed with severe asthma:
Summary (adult dosage):6,8
call an ambulance and say ‘severe asthma attack’ (best option)
continuous nebulised salbutamol (or terbutaline) with oxygen flow rate 6–8 L/min if nebuliser
or available (or 12 puffs of β2-agonist inhaler, with spacer, using one loading puff at a time
followed by 4–5 normal tidal breaths)
call your doctor
Ipratropium bromide may be mixed with β2-agonist for concurrent nebulisation.
or
parenteral β2-agonist (e.g. salbutamol 500 mcg IM, SC)
if you are having trouble finding medical help, get someone to drive you to the nearest
hospital
corticosteroids, e.g. prednisolone 50 mg (o) statim then daily until resolved
Follow the ‘4 × 4 × 4’ plan with your reliever medication, but keep using it continuously if you
or
are distressed.
hydrocortisone 250 mg IV or IM 6 hourly
Keep an asthma action plan on a card for easy reference. Remember to have extra prednisolone
and salbutamol in a household where you may be staying. oxygen 8 L/min by face mask to maintain SpO2 >92–95% or at least 95% in children

monitor PEFR
Asthma first-aid action plan Further deterioration:
Name ___________________ magnesium sulphate 25–100 mg/kg (max. 2 gm) IV over 20 min
Contacts: adrenaline 0.5 mg 1:1000 SC, IM or 1:10 000 IV
Dr ____________ Tel ____________ Page 878

Ambulance tel (000)

1. Sit upright and stay calm. Guidelines for spacer use in severe asthma8
2. Take 4 separate puffs of a reliever puffer (one puff at a time) via a spacer device. Frequency—every 20 minutes (first hour)
Just use the puffer on its own if you don’t have a spacer. Take 4 breaths from the
 One puff actuation at a time Table 73.4 Delivery systems for asthma in children
4–5 normal breaths each time
Age in
25 kg or <6 years: years
Under 8 and
6 puffs—salbutamol Vehicle of administration 2–4 5–7
2 over
2 puffs—ipratropium MDI (puffer) alone * ✓
MDI + small volume spacer** + face ✓ ✓
25–35 kg:
mask
8 puffs salbutamol MDI + large volume spacer** ✓ ✓ ✓

3 puffs ipratropium Nebuliser/air compressor/face mask ✓ ✓ ✓ ✓

Dry powder inhalers (e.g. Turbuhaler, * ✓
>35 kg: Rotahaler)
12 puffs—salbutamol Breath-activated device * ✓
4 puffs—ipratropium
*Possible in some individual children
For moderate asthma use salbutamol only **Small volume spacer—2 tidal breaths; large volume—3

The management of severe asthma is presented in CHAPTERS 89 and 120 . In the very young (e.g. 1–2 years old), a spacer with a face mask such as Aerochamber or
Breath-A-Tech can deliver the aerosol medication.

Asthma in children
The prevalence of asthma is increasing in childhood and the management (especially in infants)
is always a concern for the family doctor. The aim of treatment is to enable children to enjoy a
normal life, comparable with that of non-asthmatic children, with the least amount of medication
and at minimal risk of adverse events. Maintenance should be determined by symptom control
and lung function, especially using clinical criteria since PEFR is unreliable. A diagnosis of
asthma should not be made if cough is the only or predominant symptom and no signs of airflow
limitation.
Key checkpoints
Seek specialist advice for children under 6 months of age.
Bronchodilators, inhaled or oral, are ineffective under 12 months.
The delivery method is a problem in children and TABLE 73.4 gives an indication of what
systems can be used at various levels.
The PEFR should be measured in all asthmatic children older than 6 years. Children under 6
years generally cannot cope with the meters and those with mild asthma don’t usually need
PEFR measurement.
The Turbuhaler is usually not practical under 7–8 years.
Prophylaxis in children
The non-steroidal medications, montelukast (oral) and SCG and/or nedocromil sodium by
inhalation, are the prophylactic drugs of choice in childhood chronic asthma of mild-to-moderate
severity.
If there is no clinical response to these agents in 4 weeks, consider use of inhaled corticosteroids,
but the risks versus benefits must always be considered. Any dose equal to or greater than
400 mcg in children can have side effects, including growth suppression and adrenal
suppression. Aim for a maintenance of 100–400 mcg, which keeps the child symptom-free. Once
this stage is reached, consider stopping treatment or changing to the non-steroidal options.
Leukotriene antagonists taken orally for children aged 6 years and above is another option.
Delivery systems for children are presented in TABLE 73.4. Guidelines for the Page 879
management of asthma in children are summarised in TABLE 73.5 .
 Reassure the patient that 6–10 inhaled doses of a β2-agonist is safe and
Table 73.5 Stepwise interval management plan for children8,17 appropriate for a severe attack of asthma.

Grade of asthma
Mild—infrequent episodic:
attacks not severe
>6–8 weeks apart
Moderate—frequent episodic:
attacks <6 weeks apart
average every 4–6 weeks
attacks more troublesome
Severe—persistent asthma:
symptoms most days
nocturnal asthma >1 per week
multiple ED visits
When to refer
Therapeutic agents It is important to achieve a balance between undertreatment and overtreatment.
SABA prn Beware of patients, especially children, manipulating their peak flow meter results.
Get patients to rinse out their mouth with water and spit it out after inhaling
corticosteroids.
SABA prn
and (trial of) Patients who are sensitive to aspirin/salicylates need to be reminded that
salicylates are present in common cold cure preparations and agents such as
montelukast especially 2–5 yo:
Alka-Seltzer.2
4 mg (o) nocte 6–14 yo: 5 mg
(o) nocte Aspirin-sensitive asthma usually manifests late in life with associated rhinitis. It
or cross-sensitises with NSAIDs.
cromolyn stepped-up regular
preventer Possible side effects of inhaled drugs can be reduced by always using a spacer
ICS—minimum effective dose, with the inhaler, using the medication qid rather than bd, rinsing the mouth,
gargling and spitting out after use, and using corticosteroid-sparing medications.
e.g. beclomethasone
100–200 mcg/day budesonide
200–400 mcg/day
Patient education resources
Referral
SABA prn Hand-out sheets from Murtagh’s Patient Education 8th edition:
and
ICS (as above) Asthma
consider combination LABA + Asthma: correct use of your aerosol inhaler
ICS (>6 yo)
Add: Asthma: dangerous asthma
ipratropium bromide (nebuliser)
oral prednisolone (when References
required)
1 National Asthma Council of Australia. Australian Asthma Handbook (Version 10).
Melbourne, 2014: updated 2017. Available from: www.asthmahandbook.org.au.
2 Seale JP. Asthma. In: MIMS Disease Index. Sydney: IMS Publishing, 1991–92: 59–65.

If you are doubtful about the diagnosis 3 Australian Bureau of Statistics. Causes of death data: Asthma deaths (customised report),
2019. Available from: https://www.nationalasthma.org.au/living-with-
For advice on management when asthmatic control has failed or is difficult to achieve asthma/resources/health-professionals/reports-and-statistics/asthma-mortality-statistics,
accessed April 2021.

Practice tips Australian Bureau of Statistics. Prevalence of asthma, by age and sex, 2014–15. Available
4 from: www.aihw.gov.au/reports/asthma-other-chronic-respiratory-conditions/asthma/data,
accessed March 2018.
5 Global strategy for asthma management and preventing: global initiative for asthma
(GINA). Updated 2009. Available from: www.ginasthma.com.
6 Rees J, Price J. ABC of Asthma (2nd edn). London: BMJ Publishing Group, 1989: 1–34.
7 National Asthma Council Australia. Australian Asthma Handbook. Use and care of
spacers. Available from: www.asthmahandbook.org.au/management/devices/spacers,
accessed February 2021.
8 Asthma [published 2020]. In: Therapeutic Guidelines [digital]. Melbourne: Therapeutic
Guidelines Limited; 2020. www.tg.org.au, accessed February 2021.
9 Ducharme F, Hicks GC. Anti-leukotriene agents compared to inhaled corticosteroids in the
management of recurrent and/or chronic asthma. In: The Cochrane Library, Issue 1, 2002.
Oxford: Update Software.
10 Improve asthma control with six-step management plan. NPS News, 2002; 23: 1–6.
11 Worsnop C. Combination inhalers for asthma. Australian Prescriber, 2005; 28: Page 880
26–8.
12 Gibson PG et al. Efficacy of azithromycin on asthma exacerbations and quality of life in
adults with persistent uncontrolled asthma (AMAZES): a randomised, double-blind,
placebo-controlled trial. Lancet, 12 Aug 2017; 390(10095): 659–68.
13 McMullan BJ, Mostaghim M. Prescribing azithromycin. Australian Prescriber, 2015; 38:
87–9.
14 Global strategy for asthma management and prevention. Bethesda MD: Global Initiative
for Asthma, 2012.
15 Asthma: steps to control. NPS Medicine Wise, April 2014: 1–6.
16 Ni Chroinin M et al. Addition of inhaled long-acting beta2-agonists to inhaled steroids as
first line therapy for persistent asthma in steroid-naive adults and children. Cochrane
Database Syst Rev, 2009; October: CD005307.
17 Cates CJ et al. Holding chambers versus nebulisers for beta-agonist treatment of acute
asthma. In: The Cochrane Library, Issue 2, 2002. Oxford: Update Software.
18 Lindstrom SJ et al. Thunderstorm outbreak of November 2016: a natural disaster requiring
planning. MJA, 18 September 2017; 207(6): 235–7.
19 Gibson PE et al. Barriers to improved asthma outcomes. Cochrane Database Syst Rev,
2003; July: CD001117.
Page 881
74 Chronic obstructive pulmonary
disease
Tobacco drieth the brain, dimmeth the sight, vitiateth the smell, hurteth the stomach, destroyeth
the concoction, disturbeth the humors and spirits, corrupteth the breath, induceth a trembling of
the limbs, exsiccateth the windpipe, lungs and liver, annoyeth the milt, scorcheth the heart, and
causeth the blood to be adusted.
TOBIAS VENNER (1577–1660), VIA RECTA AD VITAM LONGAM
Chronic obstructive pulmonary disease (COPD) is described by the Global Initiative for Chronic
Obstructive Lung Disease (GOLD) as a:
common, preventable and treatable disease characterised by non-fully reversible persistent
airflow limitation that is usually progressive and associated with an enhanced chronic
inflammatory response in the airways and the lung to noxious particles or gases. It is
basically a structural disease. Exacerbations and comorbidities contribute to the overall
severity in individual patients.1
COPD typically affects middle-aged and older people with the usual age of onset in the fifth and
sixth decades. It is the fourth leading cause of death and the third leading burden of disease in
Australia, affecting 12.4% of Australians between 45 and 70 years. Early diagnosis and treatment
is important to outcome and the provisional diagnosis should be based on the clinical features of
breathlessness and cough in a smoker or ex-smoker.
Cigarette smoking is undoubtedly the major cause of both chronic bronchitis and emphysema,
although only 10–15% of smokers develop the diseases.2 Chronic bronchitis is defined as >3
episodes per year for 2 years while emphysema is destruction of alveoli. The clinical differences
between asthma and bronchitis are summarised in CHAPTER 38 . Patients experiencing overlap
of asthma and COPD should be identified and treated differently to patients with either condition
alone.
Lifelong passive smoking exposure increases COPD risk by 2.2 to 4.0 times.
FIGURE 74.1 illustrates the influence of smoking on lung function.
 Diagnosis and management of COPD
The COPDX Plan guidelines5 developed by the Australian Lung Foundation and the Page 882
Thoracic Society of Australia and New Zealand provide an appropriate framework for diagnosis
and management. The key recommendations are: Confirm diagnosis, Optimise function, Prevent
deterioration, Develop a self-management plan and manage eXacerbations.

C—Confirm diagnosis and assess severity

Symptoms

Breathlessness

Cough main symptoms

Sputum production

Chest tightness

Wheezing

Airway irritability
FIGURE 74.1 Clinical trajectory of a person who quits smoking
Fatigue

Factors in causation Anorexia with advanced disease

Weight loss
Cigarette smoking (usually 20/day for 20 years or more)4

Natural fuel—wood, twigs, crop residue

Air pollution (outdoor and indoor)
Airway infection/chronic bronchitis
Occupation: related to cadmium, silica, dusts
Familial factors: genetic predisposition
Alpha1-antitrypsin deficiency (emphysema)
Bronchial hyper-responsiveness
Consider the diagnosis of COPD in all smokers and ex-smokers older than 35 years. The
diagnosis of COPD rests on the demonstration of airflow obstruction.
The sensitivity of the physical examination for detecting mild to moderate COPD is poor.
Signs
The signs vary according to the nature of the disease and the presence of infection. Signs may be
completely absent in the early stages of COPD: chronic bronchitis may present only with
wheezing, while dyspnoea is a feature of associated airflow obstruction.
Signs may include:
 tachypnoea Blood gases

reduced chest expansion May be normal

hyperinflated lungs PaCO2 ↑; PaO2 ↓ (advanced disease)

hyper-resonant percussion
Gas transfer factor
diminished breath sounds ± wheeze
A reduced diffusing capacity of the lungs for carbon monoxide (DLCO) is a feature of COPD.
‘pink puffer’—always breathless DLCO is not reduced in asthma.

‘blue bloater’—oedematous and central cyanosis ECG

signs of respiratory failure This may show evidence of cor pulmonale

signs of cor pulmonale Sputum culture

The diagnosis is usually clinical with a history of increasing dyspnoea and sputum production in If resistant organism suspected
a lifetime smoker with no (or minimal) features of asthma. It is imprudent to make a diagnosis of
chronic bronchitis and emphysema in the absence of cigarette smoking unless there is a family FBE
history suggestive of alpha1-antitrypsin deficiency.6
To identify anaemia and polycythaemia
At diagnosis, up to 50% of lung function may have been lost.
Haemoglobin and PCV may be raised in COPD
Investigations
O—Optimise function
Pulmonary function tests
The principal goals of therapy are to stop smoking, to optimise function through relief of
Spirometry remains the gold standard for diagnosing, assessing and monitoring COPD. Post- symptoms with medication and pulmonary rehabilitation, and to prevent or treat aggravating
bronchodilator forced expiratory ratio (FER) <0.7 is required for diagnosis. factors and complications.

TABLE 74.1 is a useful consultation checklist mnemonic.7

Definition
COPD Post-bronchodilator FEV1/FVC of <0.70 (<70%) and FEV1 <80% predicted. Table 74.1 SMOKES, a consultation checklist for chronic obstructive pulmonary
disease7

The Australian stages of severity based on FEV1% predicted are mild (60–80%), moderate (40–
S = Smoking cessation
50%) and severe (<40%), while the GOLD1 staging is 1. mild (≥80%), 2. moderate (50–80%), 3.
severe (30–50%), 4. very severe (<30%). M = Medication—inhaled bronchodilator, vaccines (influenza, pneumococcus),
corticosteroids (if indicated)
Chest X-ray O = Oxygen—is it needed?
K = ‘K’omorbidity—cardiac dysfunction, sleep apnoea, osteoporosis,
This can be normal (even with advanced disease) but characteristic changes occur late in disease.
depression, asthma, GORD
May exclude lung cancer >1 cm.
 E = Exercise and rehabilitation
S = Surgery—bullectomy, lung volume reduction surgery, single-lung
transplantation
Page 883
Long-term treatment
Advice to patient
If you smoke, you must stop (persuading the patient to stop smoking is the key to
management). The only treatment proven to slow the progression of COPD is smoking
cessation.3 Consider smoking cessation medications.
Avoid places with polluted air and other irritants, such as smoke, paint fumes and fine dust.
Go for walks in clean, fresh air.
A warm, dry climate is preferable to a cold, damp place (if prone to infections).
Get adequate rest.
Avoid contact with people who have colds or flu.
Optimal diet—reduce weight if necessary.
Physiotherapy
Refer to a physiotherapist for chest physiotherapy, breathing exercises and an aerobic physical
exercise program.
Drug therapy6
In the long-term treatment of COPD, bronchodilators are recommended for the relief of
wheezing and shortness of breath. Bronchodilation is important to allow ‘lung emptying’ and
reduce gas trapping. These include: short-acting β2-agonists (SABAs, e.g. salbutamol,
terbutaline) and short-acting anticholinergic drugs (ipratropium bromide); long-acting β2-
agonists (LABAs, e.g. eformoterol, salmeterol, indacaterol, vilanterol); long-acting
anticholinergic drugs with muscarinic antagonist action (LAMAs, e.g. tiotropium,
glycopyrronium, umeclidinium) which block parasympathetic bronchial constriction; and
corticosteroids.
The preferred route of administration of bronchodilator is by inhalation, which requires correct
device technique.
Inhaled drugs can be administered by MDIs, dry powder devices or nebulisers. The evidence
suggests that an MDI and spacer are as effective as a nebuliser—they are also simpler and
cheaper—but the appropriate method depends on patient needs and preference.
The usefulness of a bronchodilator for an individual can only be assessed by a therapeutic trial,
accepting either objective improvement in lung function or improvement in symptom control as
endpoints. Individual adherence and preference play big roles in treatment decisions over time.
Short-acting bronchodilator therapy
Most studies suggest that short-acting β2-agonists and ipratropium bromide are equally
efficacious in patients with COPD. If patients do not respond adequately to one of these
bronchodilators then it is appropriate to consider a trial of a combination of the two classes of
bronchodilator with objective monitoring of response.
Use the following by inhalation:6
salbutamol 100–200 mcg, up to 4 times daily
or
terbutaline 500 mcg, up to 4 times daily
or (with and without)
ipratropium bromide 40–80 mcg, up to 4 times daily
For patients unable to use an MDI with a spacer or any other handheld device inhalation, a
nebuliser should be used, with the following doses:
salbutamol or terbutaline 2.5 to 5 mg
and/or
ipratropium bromide 250 to 500 mcg by nebuliser, up to 4 times a day
Long-acting bronchodilator therapy
Long-acting β2-agonists can be used in patients who remain symptomatic despite treatment with
combinations of short-acting bronchodilators and those with frequent exacerbations. Used
regularly, they can be effective and may be more convenient than using short-acting
bronchodilators.8 Long-acting anticholinergic therapy2 with tiotropium bromide (taken by
inhalation) has been proven to reduce the frequency of exacerbations with COPD compared with
short-acting anticholinergic drugs. The choice of drug can be determined by the patient’s
response to a trial of the drug, the drug’s adverse effects and cost including PBS listing.
For treatment with long-acting bronchodilator by inhalation, see TABLE 74.2 . Page 884
Table 74.2
Long-acting bronchodilators6
 Long-acting bronchodilators6
There is no role for ICS monotherapy in the treatment of COPD. Oral corticosteroids are not
recommended for maintenance therapy in COPD, although they may be needed in patients with
LABAs* severe COPD where corticosteroids cannot be withdrawn following an acute exacerbation. A
eformoterol 12 mcg twice daily stepwise approach to management is outlined in FIGURE 74.2 .
salmeterol 50 mcg twice daily
indacaterol 150–300 mcg daily
olodaterol 5 mcg daily

LAMAs**
aclidinium 322 mcg twice daily
tiotropium 18 mcg daily
glycopyrronium 50 mcg daily
umeclidinium 62.5 mcg daily

*LABA = long-acting β2-agonist

**LAMA = long-acting muscarinic antagonist

Corticosteroids6
Only 10% of patients with stable COPD benefit in the short term from inhaled corticosteroids
(ICS). There are no distinguishing clinical features to predict in advance which patients may
respond. The aim of treatment is to reduce exacerbation rates and slow the decline of the disease.
The effect of ICS on mortality is uncertain, and there is some evidence that ICS use may increase
rates of pneumonia. Note that asthma can possibly coexist with COPD. Benefits are not seen in
patients who continue to smoke.

If corticosteroids are to be used, usual practice is ICS/LABA combination inhalers

(fluticasone/salmeterol, fluticasone/vilanterol or budesonide/eformoterol), which are available on
the PBS for use in symptomatic patients with moderate to severe COPD (FEV1 <50%
predicted).9

In this group, tiotropium combined with an ICS/LABA combination inhaler (triple therapy) is
more beneficial than the individual treatments alone.9 Combining LAMA and LABA provides a
modest additive effect.10 FIGURE 74.2 Stepwise approach to management of COPD

Inhaled corticosteroids P—Prevent deterioration5

Guidelines for prescription include: Reducing risk factors for COPD is a priority, and smoking is the most important and prime target
if this continues to be a problem. Stopping is the only measure that slows the progression of
documented but limited evidence of responsiveness to inhaled corticosteroids, including COPD. Reinforce patient education programs, and avoid exposure to passive smoke as far as
functional status possible.
those with an FEV1 ≤50% predicted
Annual influenza vaccination
two or more exacerbations requiring oral steroids in 12 months
Influenza vaccination reduces the risk of exacerbations, hospitalisation and death. It should be
given in early autumn to all patients with COPD.
Pneumococcal vaccination
Vaccination (23vPPV) to prevent invasive bacteraemic pneumococcal pneumonia is
recommended, with a booster at 5 years.11
Long-term oxygen therapy
Page 885
Long-term oxygen therapy (LTOT) reduces mortality in COPD. Long-term continuous
therapy given for at least 15 hours a day (as close as possible to 24 hours a day) prolongs life in
hypoxaemic patients—those who have PaO2 consistently <55 mmHg (7.3 KPa; SpO2 88%) when
breathing air. At assessment for ongoing therapy, the patient’s condition must be stable and they
must have stopped smoking at least 1 month previously. Flow should be set at the lowest rate
needed to maintain a resting PaO2 of 60 mmHg. A flow rate of 0.5–2.0 L/min is usually
sufficient. Best used for at least 18 hours a day.6 There is no clear-cut evidence about the
effectiveness of intermittent ambulatory domiciliary oxygen therapy, but patients with
hypoxaemia during sleep may require nocturnal oxygen therapy.
Check current smoking status
Smoking cessation clearly reduces the rate of decline of lung function. GPs and pharmacists can
help smokers quit. Brief counselling is effective and every smoker should be offered at least this
intervention at every visit.
Refer to strategies in CHAPTER 12 , including effectiveness of treatment for nicotine
dependence.
Antibiotics
Current evidence does not support long-term antibiotic use to prevent exacerbations, but they
should be used in exacerbations with an increase in cough, dyspnoea, sputum volume or
purulence.
Corticosteroids
No medication has yet been shown to prevent the long-term decline in lung function. Inhaled
corticosteroids (ICS) are indicated for patients with a documented response or those who have
moderate to severe COPD with frequent exacerbations. ICS use has been observed to be
associated with increased rates of pneumonia.
Note: Fixed-dose combinations of LABA and ICS (see CHAPTER 73 ) are often used for patient
convenience.6
Mucolytic agents
Mucolytic agents may reduce the frequency and duration of exacerbations (evidence level I).
Mucolytic therapy should be considered for patients with a chronic cough productive of sputum.
Oral mucolytics include potassium iodide, bromhexine, N-acetylcysteine, ambroxol and glyceryl
guaiacolate. Compounds containing codeine should be avoided.
Antitussive agents
Regular use of antitussives in stable COPD is contraindicated.
Regular review
Regular review with objective measures of function is recommended in anticipation of reducing
complications, frequency and severity of exacerbations and admissions to hospital. Regular
schedules for follow-up visits are appropriate. Medication review should involve consideration
of deprescribing as well as prescribing.
Lung surgery12
The options are bullectomy, lung volume reduction surgery and transplantation. Individuals
should be referred for consideration for bullectomy if they have a single large bulla on CT scan
associated with breathlessness and an FEV1 <50% predicted. Other lung surgery should be
considered in those with severe COPD who remain breathless with marked restriction of their
activities of daily living, despite maximal therapy. Emphysema mainly involving the upper lobes
with PaCO2 <55 mmHg and FEV1 >20% predicted are some factors required for lung volume
reduction surgery.
D—Develop support network and self-management plan5
COPD imposes a considerable handicap on patients and carers, with heavy psychosocial issues
including fears about the outcome of the disease.
Respiratory physician referral
Early referral to a respiratory physician is appropriate in order to clarify the diagnosis, consider
other therapies, consider long-term home oxygen and facilitate organisation of pulmonary
rehabilitation.
Pulmonary rehabilitation
One highly effective strategy is pulmonary rehabilitation, which aims to increase patient and
carer knowledge and understanding, reduce carer strain and develop positive attitudes towards
self-management and exercise. Integrated programs include education, exercise, behaviour
modification and support, which are more effective than any separate component.
The support team and multidisciplinary care plans
As the patient’s primary health care provider, the GP is uniquely placed to identify smokers and
help them quit, facilitate early diagnosis and coordinate the support team. The support team can
enhance the quality of life and reduce morbidity for the COPD patient. The support team can
include a nurse/respiratory educator, physiotherapist, occupational therapist, social worker,
clinical psychologist, speech pathologist, pharmacist and dietitian.
Government and community support services such as Home Care, home maintenance, Page 886
exercise programs, Meals on Wheels and support groups can be galvanised to provide
support.
Self-management plans
Individuals should be encouraged to take appropriate responsibility for their own management.
The primary care team, supported by Chronic Disease Management (formerly known as
Extended Primary Care) item numbers, should develop systems to identify those with more
severe COPD who might benefit from more focused education and training in self-management
skills.
Psychological issues
The issues facing the COPD patient include fear, stress, sleep disturbance, anxiety, panic and
depression. Proactive management, including optimal care of these problems as they arise, will
facilitate coping. Management also focuses on symptom control and maximising the quality of
life. These patients have to face palliative care at the end stage and ethical issues have to be
handled sensitively.
Referral to inpatient care
The management plan should include the identification of clinical markers indicating more
intensive hospital treatment.
Indications for hospitalisation include:5
rapid rate of onset of acute exacerbation with increased dyspnoea, cough or sputum
inability to cope at home
inability to walk between rooms when previously mobile
severe breathlessness leading to inability to eat or sleep
inadequate response to ambulatory treatment
altered mental status suggestive of hypercapnia
significant comorbidity (e.g. cardiac disease)
new arrhythmia
cyanosis
X—manage eXacerbations5
Diagnosis of an exacerbation is symptomatically the acute onset over minutes to hours of:
increasing dyspnoea including use of accessory muscles at rest
increased sputum
more purulent sputum
Fever may be present, but fever and chest pain are uncommon symptoms. One-third have no
identifiable cause, but infections and heavy pollutants can cause the exacerbation. Consider
investigating with pulse oximetry, chest X-ray and sputum culture.
Patients should be treated with a bronchodilator, preferably with a large volume spacer. If
nebulisers are used they should be driven by compressed air (to avoid the problem of potentially
adverse oxygenation). Systemic glucocorticoids reduce the severity and shorten recovery.
Ventilatory support may be used if hypercapnia develops or worsens despite optimal drug
therapy. Non-invasive ventilatory support may avoid the need for intubation.
Treatment in summary6,13
Bronchodilators
Initial therapy by SABA inhalation:
salbutamol 100 mcg MDI, up to 8 to 10 inhalations, repeat as required
or
terbutaline 500 mcg DPI, 1 to 2 inhalations, repeat as required
or
ipratropium bromide 20 mcg MDI, up to 4–6 inhalations, repeat as required
If control is inadequate, combine salbutamol or terbutaline with ipratropium bromide.
If a nebuliser is used (which is usually the case upon hospitalisation), use salbutamol 2.5–5 mg,
terbutaline 2.5–5 mg or ipratropium bromide 250–500 mcg, as required.
Oxygen therapy6
Controlled oxygen delivery—28% via Venturi mask or 2 L/min via nasal prongs should be
commenced if the patient is hypoxaemic (oxygen saturation <92% with pulse oximetry). 100 mg (o) daily for a further 5 days
Maintain the arterial oxyhaemoglobin saturation at 90%. It is important to obtain a direct
measurement of arterial blood gases to confirm the degree of hypoxaemia and if hypercapnia or or
acidosis is present.
azithromycin 500 mg (o) daily for 5 days
Note that those with severe COPD are prone to hypercapnia if they breathe high oxygen
concentrations. Supplemental oxygen should be kept to a minimum. If hypercapnia develops, A stepwise approach is summarised in FIGURE 74.3 .
assisted ventilation may be required.

Corticosteroids
Corticosteroids should be used routinely for severe exacerbations. Use:

prednisolone or prednisone 30–50 mg (o), daily

If oral medication cannot be tolerated, use: Page 887

hydrocortisone 100 mg IV 6 hourly (or equivalent dose of alternative corticosteroid)

Conversion from IV to oral corticosteroid should occur as soon as practicable.

Recent RCTs have clarified that a shorter duration of oral corticosteroid (5 days) is as effective
as the traditional 7- to 14-day course for treating COPD exacerbations.14,15 The shorter course
reduces the known risks of oral corticosteroids, particularly for those individuals who have
multiple exacerbations each year. Therefore, the initial prescription should be a 5-day course
with the option of a review.

Antibiotics6
The use of antibiotics for exacerbations is not routinely indicated as many episodes are due to
viral infections. Some patients have repeated exacerbations due to bacterial infection (usually
Haemophilus influenzae, S. pneumoniae or Moraxella catarrhalis) where antibiotics have been
proven to be beneficial, reducing the risk of mortality by 77%.16

The indication for antibiotic treatment is:

increased cough and dyspnoea, together with

increased sputum volume and/or purulence

When indicated, use:

amoxicillin 500 mg (o) 8 hourly for 5 days FIGURE 74.3 Management plan for acute exacerbation of COPD

or Evidence update17,18
doxycycline 200 mg (o) as 1 dose on day 1, then
Evidence indicates that regular treatment with long-acting β2-agonists is more effective than
treatment with short-acting agents (evidence level I) and is associated with improved quality of or an acute chest illness.4
life (evidence level II), although they are more costly and do not significantly improve lung
function. Current recommended guidelines based on the severity of disease are summarised in Diagnosis can only be established by objective measurement using spirometry
TABLE 74.3 . with FEV1 being the preferred parameter.

Non-invasive positive pressure ventilation (NPPV) reduces mortality and hospital

Table 74.3
COPD therapy according to severity of disease9,17 stay in patients with acute failure; it is also an effective weaning strategy for
patients who require intubation.16
Stage of COPD Treatment The only treatment proven to slow the progression of COPD is smoking cessation.
0 At risk Avoidance of risk factors, esp. smoking
It is very difficult at times to distinguish COPD from the persistent airflow limitation
Influenza and pneumococcal vaccination. ?Haemophilus
of chronic asthma in older patients (see TABLE 38.3 ) and the two conditions
influenzae vaccination
overlap.
1 Mild Add short-acting bronchodilator
COPD is reportedly ‘massively’ underdiagnosed—screening with good quality
2 Moderate Add long-acting bronchodilators LAMA + LABA
spirometry is important.
Consider LABA/ICS and referral
Add pulmonary rehabilitation
3 Severe Add inhaled corticosteroids LABA/ICS + LAMA Patient education resources
4 Very Add long-term oxygen (if chronic respiratory failure)
severe Hand-out sheets from Murtagh’s Patient Education 8th edition:
Consider theophylline (o) or roflumilast Chronic obstructive pulmonary disease
Consider surgical referral
Bronchitis: chronic bronchitis
Page 888
References
Practice tips
1 Global Initiative for Chronic Obstructive Lung Disease (GOLD). Global strategy for the
The key triad of treatment is: inhaled bronchodilators, smoking cessation and diagnosis, management and prevention of Chronic Obstructive Lung Disease (updated
exercise. 2018). Global Initiative for Chronic Obstructive Lung Disease Inc, 2014. Available from:
www.goldcopd.org, accessed January 2021.
The two priorities are improving lung function and reducing exacerbations. LAMA
is a cornerstone of COPD treatment. 2 McPhee SJ, Papadakis MA. Current Medical Diagnosis and Treatment (56th edn). New
York: McGraw-Hill Lange, 2017: 257.
COPD patients should be referred early for rehabilitation. Contact your respiratory
physician or hospital for help. 3 Fletcher C, Peto R. The natural history of chronic airflow obstruction. BMJ, 1977;
1(6077): 1645–48.
Pulmonary rehabilitation programs benefit most patients with pulmonary disease.
4 National Prescribing Service. COPD. NPS News, 2008; 58: 1–4.
Rehabilitation teams are interdisciplinary, usually comprising a rehabilitation
physician, physiotherapist, occupational therapist, social worker and dietitian. 5 McKenzie DK et al. The COPDX Plan: Australian and New Zealand Guidelines for the
Management of Chronic Obstructive Pulmonary Disease 2003. Med J Aust (Suppl 17
Patients with COPD commonly present in the fifth decade with productive cough March), 2003: 178.
6 Chronic obstructive pulmonary disease [published 2020]. In: Therapeutic Guidelines Page 889
[digital]. Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed
March 2021.

7 Gibson PG. Management of chronic obstructive pulmonary disease. Australian Prescriber,

2001; 24(6): 152.
75 Cardiovascular disease
8 Dahl R et al. Inhaled formoterol dry powder versus ipratropium bromide in COPD. Am J
Respir Crit Care Med, 2001; 164: 778–84.

9 Yang I, Jenkins C. COPD management: an integrated approach. Medicine Today, Sept

2013: 3–7.
Of all the ailments which may blow out life’s little candle, heart disease is the chief.
10 MacDonald M. Handbook notes. Annual Update Comms for GPs. Melbourne: Monash
University, 2015 (available on request). WILLIAM BOYD (1885–1979), PATHOLOGY FOR THE SURGEON

11 Australian Technical Advisory Group on Immunisation (ATAGI). The Australian Cardiovascular disease includes mainly:
Immunisation Handbook (10th edn). Canberra: Australian Government Department of
Health, 2017: 4.13 Pneumococcal disease. coronary heart disease—myocardial ischaemia (CHAPTER 30 )

12 Snell GI, Solin P, Chin W. Lung volume reduction surgery for emphysema. Med J Aust, cerebrovascular disease—strokes and transient ischaemia (CHAPTER 121 )
1997; 167: 529–32.
peripheral vascular disease (CHAPTER 55 )
13 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2016: 848–50. The number one cause of death in the world is coronary heart disease (CHD),1 whether from
sudden fatal acute coronary events, particularly myocardial infarction (CHAPTER 30 ) or
14 Leuppi JD et al. Short-term vs conventional glucocorticoid therapy in acute exacerbations blocked arteries causing angina and eventually cardiac failure (CHAPTER 76 ).
of chronic obstructive pulmonary disease: the REDUCE randomized clinical trial. JAMA,
2013; 309: 2223–31. Cardiovascular disease was responsible for 18% of all deaths in Australia in 2017.2 This
percentage has steadily declined over the past 50 years; in 1968, CVD caused 45% of all deaths
15 Walters JA, Tan DJ, White CJ, Wood-Baker R. Different durations of corticosteroid and the rate of deaths due to myocardial infarction was around 10 times that of today. This
therapy for exacerbations of chronic obstructive pulmonary disease. Cochrane Database reduction is due to public health measures (particularly decreased smoking rates), improved
Syst Rev, 2018 Mar 19; 3(3): CD006897. preventative care (e.g. antihypertensives, statins) and improved emergency medical treatment of
acute events. Continuing emphasis on behavioural modification of risk factors and healthy habits
16 Ram FSF et al. Antibiotics for exacerbations of chronic obstructive pulmonary disease. is essential to continue this trend.
Cochrane Database of Systematic Reviews, 2006; Issue 2: Art. No.: CD004403.

17 Abramson MJ et al. COPDX Plan (version 2.37): Australian and New Zealand guidelines Risk factors for CVD
for the management of chronic obstructive pulmonary disease. Milton: Lung Foundation
Australia, April 2014. Modifiable:
18 NHLBI/WHO Workshop Report. Global Initiative for Chronic Obstructive Lung Disease Hypertension (CHAPTER 77 )
(GOLD): Global Strategy for the Diagnosis, Management and Prevention of Chronic
Obstructive Pulmonary Disease. Bethesda, MD: National Institute of Health—National Dyslipidaemia (CHAPTER 78 )
Heart, Lung and Blood Institute, 2005. Available from: www.goldcopd.org.
Smoking (CHAPTER 12 )

Diabetes (CHAPTER 11 ) with microalbuminuria

 Obesity (CHAPTER 80 ) Adults should be screened for diabetes (fasting plasma glucose or HbA1c) every 3 years from
age 40 years (Aboriginal and Torres Strait Islander people from 18 years).
Sedentary lifestyle
Adults at high risk should be screened for kidney disease every 1–2 years (ACR ratio and
Alcohol excess (CHAPTER 12 ) eGFR).

Poor nutrition (CHAPTER 5
Mental stress3 (CHAPTER 70
Non-modifiable
) Estimation of cardiovascular risk guidelines based on the key parameters— Page 890
hypertension, diabetes, smoking, total cholesterol:HDL ratio, age and sex—are
) presented in FIGURES 75.1 and 75.2 . Note that BMI, ethnicity and sedentary lifestyle do not
form part of the estimates below (or in many other cardiovascular risk tools) even though in
practice they may independently influence risk.

Family history

Increasing age

Male gender

Social history, incl. cultural/ethnic identity

Related conditions:

Chronic kidney disease (CHAPTER 79 ) with microalbuminuria

Assessment of absolute cardiovascular risk

The risk of having a cardiovascular event over the next 5 years (or sometimes 10) is an important
assessment which should be estimated before deciding on preventative medication as it greatly
influences the pros and cons of screening investigations and treatment. The following target
groups should be reassessed every 2 years:

all adults ≥45 years without known history of CVD

Aboriginal and Torres Strait Islander people ≥35 years

People for whom a high CVD risk can be assumed (e.g. established CVD, diabetes in aged >60,
hypertension) do not need an absolute CVD risk assessment using the Framingham Risk
Equation, as they automatically fall into the high-risk category.4

Specific screening recommendations4

Blood pressure should be measured in all adults from age 18 years at least every 2 years.

Adults should have their fasting blood lipids assessed starting at age 45 years, every 5 years
(Aboriginal and Torres Strait Islander people from 35 years). Non-fasting lipids are an
acceptable alternative where practicality is an issue.
 Management. Quick Reference Guide for health professionals. 2021.

Page 891

FIGURE 75.1 Estimation of cardiovascular risk in people without diabetes

Source: Used with permission of the National Vascular Disease Prevention Alliance. Absolute Cardiovascular Disease
 FIGURE 75.2 Estimation of cardiovascular risk in people with diabetes

Source: Used with permission of the National Vascular Disease Prevention Alliance. Absolute Cardiovascular Disease
Management. Quick Reference Guide for health professionals. 2021.

Secondary prevention of CHD for established

risk5,6
1 Management of lifestyle/behavioural risk factors with goals Page 892

All patients who have risk factors should be given lifestyle advice.

Intervention using the 5A framework (CHAPTER 12 ) is an appropriate practical approach for

general practitioners to assist and encourage patients with behavioural risk factor issues to
modify7 their behaviour, and can be applied to the following:

smoking—completely stop smoking and avoid second-hand smoke. The death rate from CHD
for smokers is about twice that for non-smokers. Smoking cessation, if applicable, is a priority
in risk factor reduction.

alcohol—consume a low-risk quantity (max. 2 standard drinks per day; 1 standard drink for
women with hypertension). See guidelines in CHAPTER 12 .

nutrition—maintain healthy eating including limiting saturated fatty acid and trans fat and salt
intake to ≤4 g/day.7 Aim for a low carbohydrate, healthy fat Mediterranean-type diet. Arrange
access to the Heart Foundation Health Information Services and/or refer to a dietitian.

physical activity—if possible, at least 30 minutes of moderate-intensity physical activity on

most days of the week (min. 150 minutes/week). If feasible, arrange an appointment with an
accredited exercise physiologist as well as a local activity program.

healthy weight—waist measurement (men <94 cm, women <80 cm; BMI range 18.5–25). The
benefits of weight reduction include improved insulin resistance, decreased LDL-C and
triglycerides, and increased HDL-C. See obesity guidelines in CHAPTER 80 .

stress management—encourage promotion of recreation, relaxation techniques, meditation and

social support. Treat anxiety disorders and depression with counselling if appropriate.

Additionally, patients at high risk (>15% 5-year CV risk or previous CV event) should have
specific parameters treated.

2 Management of biomedical risk factors with targets

Blood pressure: <130/80 mmHg (or as per hypertension guidelines)

Lipids: total C <4 mmol/L; LDL-C <2 mmol/L; HDL-C ≥1.0 mmol/L; non-HDL-C
<2.5 mmol/L; TG <2.0 mmol/L5
 Lowering LDL-C is essential to reduce cardiovascular risk; every decrease of 1 mmol/L
reduces all-cause mortality by 10%8
Diabetes: maintain optimal blood sugar level 4.0–6.0 mmol/L (ideal); compare NHMRC
6.1–8.0 mmol/L; HbA1c ≤7% (or as per diabetes guidelines)
9 National Vascular Disease Prevention Alliance. Guidelines for the management of
absolute cardiovascular disease risk, 2012. Available from:
https://www.heartfoundation.org.au/getmedia/4342a70f-4487-496e-bbb0-
dae33a47fcb2/Absolute-CVD-Risk-Full-Guidelines_2.pdf, accessed April 2021.

Antiplatelet agent: patients with a previous CV event should take aspirin 75–150 mg/day
unless contraindicated. However, aspirin is of limited benefit and not routinely recommended
in those who have not had a CV event, even if at high risk (>15% 5-year-risk or diabetes).9

Resource
National Vascular Disease Prevention Alliance, Guidelines for the management of absolute
cardiovascular disease risk. Available from:
https://www.heartfoundation.org.au/getmedia/4342a70f-4487-496e-bbb0-
dae33a47fcb2/Absolute-CVD-Risk-Full-Guidelines_2.pdf, accessed April 2021.

References
1 World Health Organization: fact sheet 310, July 2013. Available from:
www.WHO.int/mediacentre/factsheets/fs310.

2 Australian Bureau of Statistics. Fifty years of reductions in cardiovascular deaths.

Changing Patterns of Mortality in Australia, 1968–2017. 15 May 2020. Canberra:
Commonwealth of Australia, 2020. Available from: https://www.abs.gov.au/articles/fifty-
years-reductions-cardiovascular-deaths, accessed April 2021.

3 Weissman M et al. Panic disorder and cardiovascular/cerebrovascular problems: results

from a community survey. Am J Psych, 1990; 147(11): 1504–5.

4 RACGP. Guidelines for Preventive Activities in General Practice (9th edition). East
Melbourne: RACGP, 2016.

5 National Heart Foundation of Australia and Cardiac Society of Australia and New
Zealand. Reducing risk in heart disease, 2012. Available from:
www.heartfoundation.org.au.

6 Franklin BA, Cushman M. Recent advances in preventive cardiology and lifestyle

medicine: a themed series. Circulation, 2011; 123(20): 893–905.

7 Cardiovascular disease risk modification [published 2020]. In: Therapeutic Guidelines

[digital]. Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed
April 2021.

8 Baigent C et al. Cholesterol Treatment Trialists (CTT) Collaboration. Lancet, 2010;

376(9753): 1670–81.
 Page 893 Dyspnoea and orthopnoea (as above)

Dry irritating cough (especially at night)

Lethargy/fatigue
76 Chronic heart failure Weight change: gain (mainly) or loss

Ankle oedema

Abdominal discomfort: hepatic congestion

In the year 1775 my opinion was asked concerning a family recipe for the cure of the dropsy. I Poor cardiac output:
was told that it had long been kept a secret by an old woman in Shropshire who had sometimes
made cures after the more regular practitioners had failed—this medicine was composed of Dizzy spells/syncope
twenty or more different herbs and the active herb could be no other than the Foxglove.
Weakness
WILLIAM WITHERING (1741–1799), ON THE USE OF FOXGLOVE (DIGITALIS) IN THE TREATMENT OF Fatigue
HEART DISEASE
Note: The irritating cough due to left ventricular failure can be mistaken for asthma, bronchitis or
Heart failure occurs when the heart is unable to maintain sufficient cardiac output to meet the ACE-inhibitor-induced cough. Poor cardiac output causes fatigue and weakness.
demands of the body for blood supply during rest and activity.

Chronic heart failure (CHF) remains a very serious problem with a poor prognosis. It has a 50% Examination
mortality within 3 years of the first hospital admission.1 Australian and overseas data indicate
that 1.5% of the adult population have heart failure. The prevalence of CHF has been shown to The physical examination is very important for the initial diagnosis and evaluation of progress.
increase from approximately 1% in those aged 50–59 years to over 5% in those 65 and older, to The signs are as follows.
over 50% in those 85 years and older.2 Australian research suggests that undertreatment with the
all-important ACE inhibitors continues to be a problem. ACE inhibitors (or ARBs) and beta Signs
blockers are the gold standard for treating systolic heart failure, with aldosterone antagonists
providing added benefit if symptoms persist.3 The clinical diagnosis is based on a careful history There may be no abnormal signs initially. It is helpful clinically to differentiate between the
and examination. A major goal of management of CHF is the identification and reversal where signs of right and left heart failure:
possible of underlying causes and/or precipitating factors. CHF is characterised by two
pathophysiological factors: fluid retention and reduction in cardiac output. Left heart failure

Diagnosis Tachycardia

Low volume pulse (pulse pressure <25 mmHg)

The clinical diagnosis is based on a careful history and examination. The classic symptom of
CHF is dyspnoea on exertion but symptoms may be reported relatively late, particularly with a Tachypnoea
sedentary lifestyle. Dyspnoea can progress as follows: exertional dyspnoea → dyspnoea at rest
→ orthopnoea → paroxysmal nocturnal dyspnoea. Laterally displaced apex beat

Bilateral basal crackles

Symptoms in summary
Gallop rhythm (3rd heart sound)
Fluid accumulation:
 Pleural effusion ejection fraction provides an indication of cardiac function.

Poor peripheral perfusion—cool, pale extremities

Right heart failure Table 76.1 New York Heart Association (NYHA) functional classification
of CHF symptoms2,6
Elevated jugular venous pressure

Right ventricular heave Approximate

Class Disability 1-year
Peripheral/ankle oedema mortalities
I (asymptomatic) No limitation: cardiac disease present, 5%
Hepatomegaly but ordinary physical activity causes no
symptoms such as fatigue, dyspnoea or
Ascites
palpitation, or rapid forceful breathing
Auscultation is important to identify adventitious sounds, a third heart sound and Page 894 II (mild) Slight limitation: ordinary activity 10%
possible underlying valvular disease. (moderate exertion) causes symptoms
but patients comfortable at rest
Systolic versus diastolic heart failure III (moderate) Marked limitation: symptoms with less 20%
than ordinary physical activity (mild
The classic heart failure is systolic failure due to an inadequate pumping action of the heart. The exertion) although patients still
ventricle is dilated and contracting poorly (left ventricular ejection fraction <40%).4 comfortable at rest

Diastolic heart failure is due to impairment of left ventricular filling with preserved systolic IV (severe) Unable to carry out any physical activity 50%
function. A substantial proportion of heart failure presentations are due to diastolic heart failure without symptoms; may have symptoms
(impaired ventricular relaxation).2 It should be suspected in the elderly with hypertension and a at rest
normal heart size on chest X-ray who present with dyspnoea or pulmonary oedema.3 It is
particularly common in elderly females.

Note: Patients can have simultaneous systolic and diastolic failure.

The oedema of heart failure
Peripheral oedema appears initially on the lower legs as ‘pitting’. To assess pitting, which is
usually graded on a four-point scale, press firmly yet gently with the thumb for 5–10 seconds
over the dorsum of the feet, behind each medial malleolus and over the shins. With increasing
severity of failure the oedema extends proximally to involve the abdomen. In the recumbent
position it may be apparent over the sacrum.5
Determining severity of heart failure
The severity of heart failure can be considered from three different perspectives: the severity of
the symptoms, the degree of impairment of cardiac function and the severity of the congestive
state. The severity of the symptoms or the degree of functional disability is usually described
according to the New York Heart Association criteria (see TABLE 76.1 ).6 The left ventricular
Causes of heart failure
Causes of CHF can be classified under systolic heart failure (impaired ventricular contraction)
and diastolic heart failure (impaired ventricular relaxation and filling despite normal
contractions). Diagnosis is based on echocardiography.
Ejection fraction—reduced or preserved
With the increased uptake of echocardiography testing, an increasing proportion of adults
(particularly older, with diabetes or atrial fibrillation) with heart failure symptoms and signs are
found to have normal or near normal (>50%) ventricular ejection fraction. This is called heart
failure with preserved ejection fraction (HFpEF), which can result from numerous pathologies,
including poorly controlled hypertension, myocardial ischaemia and infiltrative
cardiomyopathies.7 Echocardiography may show a stiff, hypertrophied left ventricle and/or
diastolic dysfunction. Serum B-type natriuretic peptide (BNP) is often raised.
HFpEF has similar mortality to heart failure with reduced ejection fraction (HFrEF). A 2018
Cochrane review8 found that medications including ACE inhibitors, ARBs and beta blockers did
not have a significant impact on mortality or other clinical outcomes. Management focuses on
optimising treatment of comorbidities, especially hypertension, diabetes, atrial fibrillation and
symptomatic fluid overload.
Systolic heart failure
Echocardiography2—the transthoracic echocardiogram is the investigation of choice to
measure ventricular function. It can differentiate between systolic dysfunction and those with
normal systolic function but abnormal diastolic filling. It gives information about left and right
ventricular systolic and diastolic function, left and right ventricular size, volumes, thickness,
structure and function. It also provides information about cardiac valves, congenital heart
defects and pericardial disease.

Page 895 Electrocardiogram—a key investigation to look for evidence of ischaemia, conduction
Ischaemic heart disease, including previous myocardial infarction, is the most common
abnormalities, arrhythmias and LV hypertrophy
cause, accounting for approximately two-thirds. There is often a history of at least one
myocardial infarction.2 Essential hypertension is the other common cause. Chest X-ray to look for:
Other causes: cardiomegaly and interstitial oedema
valvular heart disease, mainly aortic and mitral incompetence upper lobe blood diversion
high output states (e.g. anaemia, hyperthyroidism, Paget disease) fluid in fissures
non-ischaemic idiopathic dilated cardiomyopathy oedema in perihilar area with prominent vascular markings
viral cardiomyopathy small basal pleural effusions
alcoholic cardiomyopathy Kerley B lines = raised pulmonary venous pressure
other cardiomyopathies—diabetic, familial frank pulmonary oedema
persistent arrhythmias, especially atrial fibrillation Note: A normal CXR does not exclude CHF.
other systemic illness (e.g. sarcoidosis, SLE, scleroderma, myxoedema) Spirometry/respiratory function testing—to detect associated airways dysfunction
chemotherapy B-type natriuretic peptide—a hormone secreted from the ventricular myocardium is an
indicator of severity of CHF and prognosis
peripartum

Diastolic heart failure Peripheral markers

Obesity, hypertension and diabetes significant risk factors
Familial: more common in women and the elderly
Common causes include ischaemic heart disease, systemic hypertension, aortic stenosis, atrial
fibrillation (inadequate filling), hypertrophic cardiomyopathy, pericardial disease
Significant morbidity and difficult to diagnose
FBE and ESR: anaemia can occur with CHF; severe anaemia may cause CHF
Serum electrolytes: usually normal in CHF, important to monitor management
Kidney function tests: for monitoring drug therapy
Liver function tests: congestive hepatomegaly gives abnormal LFTs
Urinalysis

Investigations Thyroid function tests, especially if atrial fibrillation

Viral studies: for suspected viral myocarditis

The following should be considered:
Specialised cardiac investigation (specialist directive) Any underlying cause should be identified and treated, if possible. Precipitating factors that
should be treated include:
Coronary angiography—for suspected and known ischaemia. CT angiography and
cardiovascular MRI preferred arrhythmias (e.g. atrial fibrillation)

electrolyte imbalance, especially hypokalaemia

Haemodynamic testing

Endomyocardial biopsy anaemia

myocardial ischaemia, especially myocardial infarction

Nuclear cardiology
dietary factors (e.g. malnutrition, excessive salt or alcohol intake)
Treatment of heart failure
adverse drug reactions (e.g. fluid retention with NSAIDs and COX-2 agents) (see
The treatment of heart failure includes determination and treatment of the cause, removal of any TABLE 76.2 )11
precipitating factors, appropriate patient education, general non-pharmaceutical measures and infection (e.g. bronchopneumonia, endocarditis)
drug treatment. Studies have shown the benefit of an integrated, multidisciplinary approach to
management. hyper- and hypothyroidism

Prevention of heart failure lack of adherence to therapy

The emphasis on prevention is very important since the onset of heart failure is generally fluid overload
associated with a poor prognosis. Approximately 50% of patients with heart failure die within 5
years of diagnosis.9 Table 76.2 Drugs that can aggravate CHF
The scope for prevention includes the following measures:10
NSAIDs including COX-2 inhibitors
dietary advice (e.g. achievement of ideal weight, optimal nutrition)
Corticosteroids
emphasising the dangers of smoking and excessive alcohol Tricyclic antidepressants
control of hypertension Page 896 Calcium-channel blockers (verapamil and diltiazem)
Selected antiarrhythmics (e.g. quinidine)
control of other risk factors (e.g. hyperlipidaemia)
Macrolide antibiotic
early detection and control of diabetes
Macrogol
early intervention during myocardial infarction to preserve myocardial function (e.g. Type 1 antihistamines
thrombolytic therapy)
Clozapine
secondary prevention after the occurrence of myocardial infarction (e.g. beta blockers, ACE H2-receptor antagonists
inhibitors and aspirin)
Thiazolidinediones (glitazones)
appropriate timing of surgery or angioplasty for ischaemic or valvular heart disease TNF-alpha inhibitors (e.g. etanercept, infliximab)
Ethanol or illicit drug (e.g. cocaine) use
Treatment of causes and precipitating factors
Note: Be mindful of complementary medications.
General non-pharmacological management
Education and support
Smoking: encourage no smoking
Refer for a rehabilitation program with interdisciplinary care
Encourage physical activity especially when symptoms absent or mild
Rest while symptoms are severe
Weight reduction, if patient obese
Advice on food supplementation—dietitian
Salt restriction: advise no-added-salt diet (<2 g or 60–100 mmol/day)
Water restriction: water intake should be limited to 1.5–2 L/day or less in patients with
advanced heart failure, especially when the serum sodium level falls below 130 mmol/L9
Limit caffeine to 1–2 cups coffee/tea a day
Limit alcohol to 1 standard drink a day
Fluid aspiration—if pleural or pericardial effusion present
Daily weighing—check significant weight gain or loss
Comprehensive information can be found at Heart Online (see:
https://www.heartonline.org.au/)
Other general measures1
Optimise cardiovascular risk factors (e.g. BP, lipids, HbA1c)
Monitor emotional factors including depression
Regular review
Vaccination: annual influenza, 5-yearly pneumococcus
2-yearly echocardiography (or more) as indicated
Pleurocentesis or pericardiocentesis (if applicable)
Treat coexisting obstructive sleep apnoea
Drug therapy of heart failure due to left ventricular
systolic dysfunction
Any identified underlying factor should be treated.
Evidence from RCTs shows the beneficial results from ACE inhibitors2,11 (or angiotensin II
receptor blockers), digoxin (improves outcome in people already receiving diuretics and ACE
inhibitors), beta blockers and spironolactone (in severe heart failure).
Atrial fibrillation should be treated with digoxin. Vasodilators are widely used for heart failure
and angiotensin converting enzyme inhibitors (ACEI) are currently the most favoured
vasodilator.
Note: Monitor and maintain normal potassium level in all patients. Page 897
ACE inhibitors improve prognosis in all grades of heart failure and should be employed as the
initial therapy in all patients, except where contraindicated (e.g. kidney artery stenosis,
angioedema).
Diuretics have an important place in fluid overload. As a rule they should be added to an ACEI
to achieve euvolaemia. Diuretics should be used in moderation and excessive doses of a single
drug avoided. In patients with systolic LV dysfunction they should not be used as
monotherapy.10 Close monitoring of weight, kidney function and electrolytes is required. Loop
diuretics such as frusemide, bumetanide or ethacrynic acid are commonly used, especially for
heart failure of moderate severity.10 Thiazide and related diuretics produce a gradual diuresis and
are recommended for mild heart failure. Examples include hydrochlorothiazide, bendrofluazide,
chlorthalidone or indapamide.
Initial therapy of heart failure9,12
1. ACE inhibitor (start low, aim high)
Dosage of ACE inhibitor: commence with ¼ to ½ lowest recommended therapeutic dose and
then adjust it for the individual patient by gradually increasing it to the maintenance or
maximum dose (see TABLE 76.3 ). Once-daily agents are preferred. Use an ARB if cough is
problematic.
Table 76.3
Some ACE inhibitors in common usage6
ACE inhibitor Initial daily oral dose Usual maintenance dose
Captopril 6.25 mg 25 mg tds
Enalapril 2.5 mg 10 mg bd
 Fosinopril 5 mg 20 mg daily hydrochlorothiazide 25–50 mg (o) daily (or other thiazide)
Lisinopril 2.5 mg 5–20 mg daily or
Perindopril 2 mg* 4 mg* daily
indapamide 1.5–2.5 mg (o) daily
Quinapril 2.5 mg 20 mg daily
Ramipril 1.25 mg 5 mg daily 3. Add an aldosterone antagonist diuretic (if fluid overload not controlled):

Trandolapril 0.5 mg 2–4 mg daily spironolactone 12.5–50 mg (o) daily

or
*2 mg perindopril erbumine = 2.5 mg perindopril arginine

eplerenone 25–50 mg (o) daily

ACE inhibitors
ACE inhibitors are regarded as the agents of first choice because they correct neuroendocrine
abnormalities and reduce cardiac load by their vasodilator action.
Every effort should be made to up-titrate to the highest tolerated dose.
Consider giving the first dose at bedtime if there is a risk of orthostatic hypotension.
If the ACEI is not tolerated (e.g. due to cough) consider an angiotensin II receptor blocker
(ARB) as they have proven benefit in CHF.13
Some authorities are concerned about the over-reliance on diuretics and also about compliance as
well as side effects. Once the diuretic effect has been achieved, diuretics may be withdrawn and
fluid restriction advised. The ACEI is then used alone or with a beta blocker.
Beta blockers
Selective beta blockers have been shown to prolong survival of patients with mild to moderate
CHF taking ACE inhibitors who are stabilised. Start with extremely low doses (see
TABLE 76.4 ). Commence when patient stable and euvolaemic.

In practice the usual initial treatment of heart failure is an ACE inhibitor plus diuretic. This
combination optimises response and improves diuretic safety. Table 76.4 Beta blockers approved to treat heart failure
Consider stopping any diuretic for 24 hours before starting treatment with an ACEI.
Beta blocker Initial daily dose Target dose
Potassium-sparing diuretics or supplements should not be given with ACEI (or should at least
be used with caution) because of the danger of hyperkalaemia. Bisoprolol 1.25 mg (o) daily 10 mg (o) daily
Carvedilol 3.125 mg (o) bd 25 mg (o) daily
Kidney function and potassium levels should be monitored in all patients.
Metoprolol extended release 23.75 mg (o) daily 190 mg (o) daily
2. Add a diuretic (if congestion): Nebivolol 1.25 mg (o) 10 mg (o) daily
loop diuretic (preferred)

frusemide 20–40 mg (o) once or twice daily Digoxin

Page 898
or Digoxin was the mainstay of treatment of heart failure for decades prior to the use of
ACE inhibitors. It was an effective agent but limited. The two indications for its current use are
ethacrynic acid 50 mg (o) daily in patients with atrial fibrillation to control rapid ventricular rate and in patients with sinus
rhythm not adequately controlled by the other agents above it in FIGURE 76.1 . Most patients
or are started on a low dose digoxin:
(thiazide-type diuretic) 62.5–250 mcg (o) daily
 not tolerated. Other new agents to consider for optimal treatment include sacubitril/valsartan
(Entresto)—an angiotension/neprilysin inhibitor.

Heart failure (unresponsive to first-line therapy)—stepwise strategy2,9

ACE inhibitor

plus

frusemide 40–80 mg (o) bd

plus

spironolactone 12.5 (starting)—25 mg (o) daily (monitor potassium and RFTs), if still
congestion

plus

a selective beta blocker (if patient euvolaemic)

plus

digoxin (if not already taking it):9 loading dose:

0.5–0.75 mg (o) statim (depending on kidney function)

then 0.5 mg (o) 4 hours later

then 0.5 mg the following day

then individualise maintenance

Severe heart failure9,12

Seek specialist advice.

Hospital with bed rest.

ACE inhibitor to maximum tolerated dose

FIGURE 76.1 A stepwise pharmacological management approach to systolic plus

heart failure12,14 frusemide to max. 500 mg/day

New agents9 plus

Ivabradine is a direct sinus node inhibitor which can be added to a beta blocker in patients with spironolactone (low dose) 25 mg/day
continuing symptoms of moderate to severe failure, or where beta blockers are contraindicated or
If poorly controlled, consider adding:
 thiazide diuretic Failure to monitor electrolytes and kidney function

spironolactone—doses up to 100–200 mg daily

ACE inhibitors, beta blockers and spironolactone have been shown to improve
a beta blocker survival in heart failure with reduced ejection fraction (HFrEF).11
digoxin

heparin (if confined to bed) Acute severe heart failure

Vasodilators For the treatment of acute pulmonary oedema refer to CHAPTER 120 .

If still uncontrolled, consider vasodilators other than ACEIs or ARBs: Device-based heart failure treatments1
isosorbide dinitrate 20–40 mg (o) 6 hourly
The use of mechanical devices to treat patients with severe failure is gaining momentum.
plus Devices include:

hydralazine 50–100 mg (o) 6 hourly implantable cardiac defibrillators

A glyceryl nitrate patch can be used for the relief of symptoms, especially nocturnal dyspnoea. biventricular pacemakers

Consider cardiac transplantation for appropriate patients with end-stage heart failure (e.g. left ventricular assist devices (definitive VentrAssist)
patients under 50 with no other major disease). Other surgical options include heart valvular
The evidence for the efficacy of these devices is good, but limitations include cost and infection.
surgery, coronary artery bypass surgery and surgical ventricular restoration (surgical reduction of
Biventricular pacing or cardiac resynchronisation therapy resynchronises cardiac contraction in
an enlarged left ventricle).
patients with systolic CHF and left branch bundle block. VentrAssist is based on a continuous
A flow chart for the basic management of heart failure is presented in FIGURE 76.1 . flow rotary blood pump that is surgically implanted in the abdominal wall and attached to the
apex of the ventricle.
Diastolic heart failure2,10
Page 899
When to refer
Management is based on treating the cause such as hypertension, ischaemia and
diabetes. The basic treatment is with inotropic agents such as calcium-channel blockers Age <65 years
(verapamil or diltiazem) and beta blockers. If possible avoid diuretics (except for congestion),
digoxin, nitrates/vasodilators and nifedipine. Excessive diuresis from overzealous diuretic Uncertainty of diagnosis, especially diastolic heart failure
therapy can cause severe consequences for cardiac output. ACE inhibitors can be used with
caution. Complex management issues (especially with beta blockers, digoxin)

Familial screening (where appropriate)

Pitfalls in management
Acute decompensation
The most common treatment error—excessive use of diuretics3
Refractory symptoms
Giving an excessive loading dose of ACE inhibitor
Device implantation or cardiac transplantation
Failure to correct remedial causes or precipitating factors

Failure to measure left ventricular function Practice tips

 Echocardiography is the gold standard for diagnosing CHF.
Early diagnosis and then optimal therapy is the key to prevent or slow
progression.
Use a multidisciplinary team approach for the patient with CHF and refer early and
readily for specialist advice.
ACE inhibitors, if tolerated, are recommended for all patients with heart failure,
whether symptoms are mild, moderate or severe.1
The primary reason for prescribing an ACE inhibitor is to reduce the risk of death
or hospitalisation.
Diuretics are very effective in the presence of fluid overload, but should be used in
combination with an ACE inhibitor—not as monotherapy.
Drug treatment should include an ACE inhibitor and selective beta blocker
wherever possible.1
Beware of hyperkalaemia with the combination of an ACEI or ARB with an
aldosterone antagonist.
Device-based heart failure therapy is an expanding field and includes three major
groups of devices: biventricular pacemakers (cardiac resynchronisation therapy),
implantable cardiac defibrillators and left ventricular assist devices.1
Patient education resource
Hand-out sheet from Murtagh’s Patient Education 8th edition:
Heart failure
Resource
Heart Online: https://www.heartonline.org.au/.
References
1 Piterman L et al. Chronic heart failure: optimising care in general practice. Aust Fam
Physician, 2005; 34(7): 547–53.
2 National Heart Foundation of Australia and the Cardiac Society of Australia and New
Zealand. Diagnosis and management of chronic heart failure, 2011. Available from:
www.heartfoundation.org.au.
3 Krum H et al. Chronic heart failure in Australian general practice: the Cardiac Page 900
Awareness Survey and Evaluation (CASE) Study. Med J Aust, 2001; 174: 439–
44.
4 Lemanna A, Atherton JJ. Prevention and management of heart failure. MedicineToday,
June 2010; 11(6): 56–68.
5 Davis A, Bolin T, Ham J. Symptom Analysis and Physical Diagnosis (2nd edn). Sydney:
Pergamon Press, 1990: 173.
6 Piterman L, Zimet H, Krum H. Chronic heart failure. Check Program 410. Melbourne:
RACGP, 2006: 5.
7 Naing P et al. Heart failure with preserved ejection fraction: a growing global epidemic.
AJGP, July 2019; 48(7): 465–71.
8 Martin N et al. Beta-blockers and inhibitors of the renin-angiotensin aldosterone system
for chronic heart failure with preserved ejection fraction. Cochrane Database Syst Rev,
2018; No 6: CD012721.
9 Heart failure [published 2018]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guideline Limited; 2018. www.tg.org.au, accessed March 2021.
10 Kumar P, Clark M. Clinical Medicines (9th edn). London: Elsevier Saunders, 2009: 129.
11 Sindone A. Investigation and management of chronic heart failure. Medicine Today, 2008;
9(1): 27–37.
12 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2016: 228–9.
13 Granger CB et al. Effects of candesartan in patients with chronic heart failure and reduced
left-ventricular systolic function intolerant to angiotensin-converting-enzyme inhibitors:
the CHARM-alternative trial. Lancet, 2003; 362: 772–6.
14 The National Collaborating Centre for Chronic Conditions. NICE Guideline No. 5.
Chronic Heart Failure. National Clinical Guideline for Diagnosis and Management in
Primary and Secondary Care, 2011. Available from:
www.heartfoundation.com.au/downloads.
 Page 901 Optimal <120 <80
Normal 120–129 80–84
High normal 130–139 85–89
Grade 1 hypertension (mild) 140–159 90–99
77 Hypertension Grade 2 hypertension (moderate) 160–179 100–109
Grade 3 hypertension (severe) ≥180 ≥110
Isolated systolic hypertension ≥140 <90

The greatest danger to a man is that someone will discover hypertension and some fool will try Note: When a patient’s systolic and diastolic BPs fall into different categories, the higher category should apply.

to reduce it.

JOHN HAY 1931 For adults aged 18 years and older, hypertension is
Hypertension is a serious community disorder and the most common condition requiring long-
repeated measurements of:
term drug therapy in Australia. It is a silent killer because most people with hypertension are
asymptomatic and unaware of their problem. Epidemiological studies have demonstrated the diastolic pressure >90 mmHg, and/or
association between hypertension and stroke, coronary heart disease, kidney disease, heart failure systolic pressure >140 mmHg
and atrial fibrillation. Treatment may be lifelong, hence the need for careful work-up.

Target organs that can be damaged by hypertension include the heart (failure, LVH, ischaemic
disease), kidney (kidney insufficiency), retina (retinopathy), blood vessels (peripheral vascular Isolated systolic hypertension is that of ≥140 mmHg in the presence of a diastolic pressure
disease, aortic dissection) and brain (cerebrovascular disease). <90 mmHg.

Almost 6% of the Australian disease burden is due to hypertension.1 Hypertension is either essential or secondary (see TABLE 77.2 ).

Factors increasing the chances of dying in hypertensive patients are: male, onset at a young
Table 77.2 Causes of hypertension
age, family history, increased diastolic pressure.2

Definitions and classification Essential (90–95%)

Secondary (approx. 5–10%)
The various categories of BP are arbitrarily defined (and change over time in different Kidney <3%
guidelines) according to BP values for both diastolic and systolic readings (see glomerulonephritis
TABLE 77.1 ).3,4 reflux nephropathy
kidney artery stenosis (see later in this chapter)
other renovascular disease
Table 77.1 Definition and classification of blood Endocrine: 0.3–1%
pressure in adults aged 18 years and older primary aldosteronism (Conn syndrome) (see CHAPTER 14 )
measured as sitting blood pressure (mmHg)4,5 Cushing syndrome (see CHAPTER 14 )
phaeochromocytoma (see CHAPTER 14 )
Category Systolic Diastolic oral contraceptives
 other endocrine factors Levels of systolic and Cerebrovascular Left ventricular
Coarctation of the aorta diastolic BP disease: hypertrophy
Immune disorder (e.g. polyarteritis nodosa) Male >55 years ischaemic stroke Microalbuminuria
Female >65 years cerebral and/or
Drugs (e.g. NSAIDs, corticosteroids)
haemorrhage proteinuria
Pregnancy Smoking
transient and/or eGFR
Diabetes mellitus <60 mL/minute
ischaemic attack
Dyslipidaemia (total Ultrasound or
cholesterol >6.5 mmol/L, Heart disease:
Essential hypertension is the presence of sustained hypertension in the absence of underlying, angiographic
potentially correctable kidney, adrenal or other factors. or LDL-cholesterol myocardial evidence of
>4.0 mmol/L, or HDL- infarction atherosclerotic
Malignant hypertension is that with a diastolic pressure >120 mmHg and exudative cholesterol M <1.0, F angina disease
vasculopathy in the retinal and kidney circulations. <1.2 mmol/L) coronary Hypertensive
Family history of revascularisation retinopathy
Refractory hypertension is a BP >140/90 mmHg despite maximum dosage of 2 drugs for 3–4 premature cardiovascular congestive heart (grade II or
months. disease (at age <55 years
failure more)
M, <65 years F)
Kidney disease:
Risk stratification and calculation of Abdominal obesity
diabetic
(abdominal circumference
cardiovascular risk3,4 M ≥102 cm, F ≥88 cm) nephropathy
kidney
Treatment of hypertension is generally indefinite, with the uncommon exception of Page 902 impairment
marked lifestyle change rendering treatment unnecessary, or the more common late-life proteinuria
deprescribing when age and frailty render the risks of treatment greater than the benefits. (>300 mg/24 h)
Peripheral vascular
It is important to establish the risk status and the prognosis prior to commencing therapy, disease
especially if hypertension is an isolated factor. The World Health Organization–International
Advanced
Society of Hypertension (WHO–ISH) recommendation is that decisions about management of
retinopathy:
patients with hypertension should not be based on BP alone but also on the presence or absence
of other risk factors, including age, diabetes and smoking. This is because the benefits of haemorrhages
treatment are less in those with low cardiovascular risk. CV risk should be stratified according to or exudates
the BP level and the presence of: papilloedema

absolute cardiovascular risk factors Other factors affecting prognosis

Excessive alcohol intake
associated clinical conditions Specific complementary medicines, e.g. containing
tyramine
target organ damage (see TABLE 77.3 )
Sedentary lifestyle
High-risk socioeconomic group
High-risk ethnic group
Table 77.3
Factors influencing prognosis in hypertension3

Risk factors for A practical approach to stratifying total cardiovascular risk is proposed in TABLE 77.4 . The
Associated clinical Target organ
cardiovascular disease used terms ‘low’, ‘moderate’ (medium), ‘high’ and ‘very high’ added risk are calibrated to indicate an
condition damage
for stratification absolute 5-year risk of cardiovascular disease of <10%, 10–15%, 15–20% and >20% respectively
Levels of systolic and Cerebrovascular Left ventricular
(based on Framingham criteria).5 For example, ‘low risk’ indicates consideration of treatment malignant hypertension.4
and monitoring; ‘high risk’ indicates treating immediately.

Table 77.5
Clinical features suggesting secondary hypertension6
Table 77.4 Stratification of cardiovascular risk to quantify prognosis4
Clinical features Likely cause
Other risk Abdominal systolic bruit Renal artery stenosis
factors High normal Mild Moderate
Normal BP Proteinuria, haematuria, casts Glomerulonephritis
and disease BP hypertension hypertension
history Bilateral kidney masses with or without Polycystic disease
No other Low risk Low risk Average risk Moderate risk haematuria
risk factors History of claudication and delayed Coarctation of the aorta
1 or 2 risk Low risk Low risk Moderate risk Moderate risk femoral pulse
factors but Progressive nocturia, weakness Primary aldosteronism
not (check serum potassium)
diabetes
Obesity, snoring, daytime sleepiness Sleep apnoea
3 or more Moderate risk High risk High risk High risk
risk factors Recreational drugs, complementary or Stimulants, diet pills, OCP,
or target prescribed therapies energy drinks
organ Paroxysmal hypertension with headache, Phaeochromocytoma
damage or pallor, sweating, palpitations
diabetes
Associated High risk Very high risk Very high risk Very high risk Page 903
clinical The most common causes of secondary hypertension are various kidney diseases, such
conditions as renovascular disease, chronic glomerulonephritis and chronic pyelonephritis (often associated
with reflux nephropathy).7 There will often be no physical findings to suggest the existence of
such kidney diseases, but an indication will generally be obtained by the presence of one or more
abnormalities when the urine is examined. Clinical pointers include proteinuria, an abnormal
Risk estimation can be determined by referring to various cardiovascular risk tables on the urine sediment, general atheroma, abdominal bruit and being a smoker. Consider sleep apnoea,
website (and in CHAPTER 75 ). A commonly used tool in Australasia is the modified New and take a comprehensive medication history, including illicit drugs and alternative remedies.
Zealand Cardiovascular Risk Charts (see: www.heartfoundation.com.au). See CHAPTERS 11
and 75 . Physical findings that may suggest secondary hypertension include epigastric bruits (possible
kidney artery stenosis) and abdominal aortic aneurysm. Less common findings include
It is important to collaborate with patients in decision making, and thus discussing cardiovascular abdominal flank masses (polycystic kidneys), delayed or absent femoral pulses (coarctation of
risk assessment and blood pressure (BP) level should be the starting point when discussing the the aorta), truncal obesity with pigmented striae (Cushing syndrome) and tachycardia, sweating
risks and benefits of treatment. and pallor (phaeochromocytoma). Endocrine causes are presented in CHAPTER 14 .

Further investigation will be required to confirm or reveal secondary hypertension.

Secondary hypertension
Secondary hypertension may be suggested by onset below 40 years, or by the history (see
TABLE 77.5 ), physical examination, severity of hypertension or the initial laboratory findings.
It is also more likely where BP is responding poorly to drug therapy, and in accelerated or
Renal artery stenosis
Atherosclerotic kidney artery stenosis accounts for the majority of cases, while fibromuscular
dysplasia remains an important cause. Doppler ultrasound is a highly sensitive and specific
investigation. Measure BP also in standing position in the elderly and those with diabetes.

Detection of hypertension7
Hypertension can only be detected when BP is measured. Therefore, frequent opportunities
should be taken to measure BP: every 6–12 weeks in high-risk patients; every 6–12 months in
moderate-risk patients.8

Diagnosis should not be made on the basis of a single visit. Initial raised BP readings should be
confirmed on at least two other visits within the space of 3 months; average levels of 90 mmHg
diastolic or more, or 140 mmHg systolic or more, are needed before hypertension can be
diagnosed. This will avoid the possibility of an incorrect diagnosis, committing an
asymptomatic, normotensive individual to unjustified, lifelong treatment.

Measurement guidelines3,4
BP varies continuously and can be affected by many outside factors. Care should therefore be
taken to ensure that readings accurately represent the patient’s usual pressure.

Page 904

BP measurement recommendations5
FIGURE 77.1 Correct placement of the cuff
All people aged 18 years and over

Frequency—every 2 years Recording

Office BP measurement guidelines4
May be done manually or using an automated machine.
Allow the patient to sit quietly for several minutes.
On each occasion when the BP is taken, two or more readings should be averaged. Wait at least
30 seconds before repeating the procedure. If the first two readings differ by more than 6 mmHg
systolic or 4 mmHg diastolic, more readings should be taken.
Both systolic and diastolic levels should be recorded. For the diastolic reading the disappearance
of sound (phase 5)—that is, the pressure when the last sound is heard and after which all sound
disappears—should be used.9 This is more accurate than the muffling of sounds (phase 4) (see
FIG. 77.2 ), which should only be used if the sound continues to zero.

Use a validated (calibrated) device—manual or automated.

Take at least two measurements spaced by 60 seconds.

Use a standard bladder (12–13 × 35 cm), but a larger one for big arms.

Have the cuff at the heart level (see FIG. 77.1 ).

For manual measurements, deflate the cuff slowly (2 mmHg/s).

 measurement.
Smoking Patients should avoid smoking for 2 hours before measurement.
Eating Patients should not have eaten for 30 minutes.

Strategies for high initial readings

If the initial reading is high (DBP >90 mmHg, SBP >140 mmHg), repeat the measures after 10
minutes of quiet rest. The ‘white coat’ influence in the medical practitioner’s office may cause
higher readings so a home automated device or Holter monitor may be very useful.

Confirmation and follow-up7

Repeated BP readings will determine whether initial high levels are confirmed and need
attention, or whether they return to normal and need only periodic checking. Particular attention
should be paid to younger patients to ensure that they are regularly followed up.

Initial diastolic BP readings of 115 mmHg or more, particularly for patients with target organ
damage, may need immediate drug therapy.

Once an elevated level has been detected, the timing of subsequent readings should be based on
the initial pressure level, as shown in TABLE 77.6 .

Table 77.6 Follow-up criteria for initial blood pressure measurement for
adults 18 years and older10

Systolic Diastolic
FIGURE 77.2 Illustration of blood pressure measurement in relation to arterial (mmHg) (mmHg) Action/recommended follow-up*
blood flow, cuff pressure and auscultation
<120 <80 Recheck in 2 years
Heart rate and pulse 120– 80–89 Recheck in 1 year—lifestyle advice
139
At the same time the BP is measured, record the heart rate and rhythm. A high heart rate may 140– 90–99 *Confirm within 2 months—lifestyle advice
indicate undue stress that is causing the associated elevated BP reading. An irregular heart 159
rhythm may cause difficulty in obtaining an accurate BP reading.
160– 100– *Evaluate (or refer) within 1 month—lifestyle advice
BP modifying factors 179 109
≥180 ≥110 *Further evaluate and refer within 1 week (or
Apprehension Patient should be rested for at least 5 minutes and made as immediately depending on clinical situation)
relaxed as possible.
If BP has been confirmed at ≥180 mmHg systolic and/or
Caffeine Patients should not take caffeine for 4–6 hours before ≥110 diastolic mmHg (after multiple readings and
 excluding ‘white coat’ hypertension), commence drug
treatment Definition

If systolic and diastolic categories are different, follow recommendations for shorter follow-up (e.g. for BP 160/86 mmHg evaluate or refer within 1
SBP ≥ 140 mmHg with a DBP <90 mmHg
month).
*Note: Earlier initiation of drug therapy may be indicated for some patients.

If mild hypertension is found, observation with repeated measurement over 3–6 months should If a trial of non-pharmacological therapy fails, then drugs are used to cautiously reduce Page 906
be followed before beginning therapy. This is because levels often return to normal. the systolic BP to between 140 and 160 mmHg.

Ambulatory 24-hour monitoring Evaluation

This is required for the diagnosis and follow-up of patients with fluctuating levels, borderline As well as defining the BP problem, the clinical evaluation for suspected hypertension should
hypertension or refractory hypertension (especially where the ‘white coat’ effect may be also determine:
significant). Studies have shown that this method provides a more precise estimate of BP
variability than casual recordings. whether the patient has potentially reversible secondary hypertension
An evidence-supported alternative is home BP monitoring, where the patient purchases Page 905 whether target organ damage is present
or borrows an automated machine and takes multiple readings over a number of days.
whether there are other potentially modifiable cardiovascular risk factors present, and
Guidelines for ambulatory BP measurement:
what comorbid factors exist
unusual variability of office BP
These factors markedly influence the weighing up of benefit versus risk when deciding whether
marked discrepancy between office and home BP to commence (or increase) antihypertensive medication. That decision needs to take into account
more than just the BP reading.
resistance to drug treatment

suspected sleep apnoea Medical history

when two BP readings >140/90
The following should be included in the medical history.

‘White coat’ hypertension History of hypertension

This group may comprise up to 25% of patients presenting with hypertension. These people have
Method and date of initial diagnosis
a type of conditioned response to the clinic or office setting, yet their home BP and ambulatory
BP profiles are normal. They appear to be at low risk of cardiovascular disease but may progress Known duration and levels of elevated BP
to sustained hypertension. Ambulatory 24-hour monitoring can be useful.
Symptoms that may indicate the effects of high BP on target organ damage, such as headache,
Masked hypertension dyspnoea, chest pain, claudication, ankle oedema and haematuria

This is where office measurements are normal but ambulatory BP is elevated. Prognosis is Symptoms suggesting secondary hypertension (see TABLE 77.5 )
relatively poor. Suspect it if evidence of end organ damage but normal office BP.
The results and side effects of all previous antihypertensive treatments
Isolated systolic hypertension
Presence of other diseases and risk factors
Isolated systolic hypertension is most frequently seen in elderly people. It is not benign.
 A history of cardiovascular, cerebrovascular or peripheral vascular disease, kidney disease, bupropion/clozapine
diabetes or recent weight gain
SNRIs, e.g. venlafaxine (dose-related)
Other cardiovascular risk factors, including obesity, hyperlipidaemia, carbohydrate
intolerance, smoking, salt intake, alcohol consumption, exercise levels and analgesic intake Alcohol intake7
Other relevant conditions, such as asthma or psychiatric illness (particularly depressive illness)
Alcohol has a direct pressor effect that is dose-related. An assessment of the average daily
number of standard drinks is important—more than two standard drinks (20 g alcohol) per day is
Family history significant.

Particular attention should be paid to the family history of hypertension, cardiovascular or

cerebrovascular disease, hyperlipidaemia, obesity, diabetes, kidney disease, alcohol abuse and Examination
premature sudden death.
The approach to the physical examination is to detect possible target organ damage and Page 907
Medication history possible causes of secondary hypertension. The main features to consider are illustrated in
FIGURE 77.3 .
A history of all medications, including over-the-counter products, should be obtained because
some can raise BP or interfere with antihypertensive therapy. Prohypertensive substances
include:

alcohol

oral and depot contraceptives

hormone replacement therapy

steroids/corticosteroids

NSAIDs/COX–2 inhibitors

sympathomimetics, nasal decongestants and other cold remedies, pseudoephedrine

appetite suppressants

stimulants, e.g. amphetamines

irreversible monoamine oxidase inhibitors

analgesics

ergotamine

cyclosporin

tacrolimus

natural liquorice
 the arm (brachial artery) and ankle (dorsalis pedis and posterior tibial arteries). See
CHAPTER 55 .
FIGURE 77.3 Examination of patient with hypertension: what to look for

The four grades of hypertensive retinopathy are illustrated in FIGURE 77.4 .

Blood pressure measurement in the leg
Place the patient prone.

Use a wide, long cuff at mid-thigh level.

Position the bladder over the posterior surface and fix it firmly.

Auscultate over the popliteal artery.

Investigations4,6,8
Page 908

Recommended tests
Chest X-ray

Plasma glucose (preferably fasting)

Serum total and high-density lipoprotein (HDL) cholesterol, triglycerides (fasting if

convenient)

Serum creatinine/eGFR/ACR

Serum uric acid

Serum potassium and sodium

Haemoglobin and haematocrit

FIGURE 77.4 The four grades of hypertensive retinopathy
Urinalysis (dipstick test and urinary microscopy for sediment)
Leg pulses and pressure Electrocardiogram
To assess the remote possibility of coarctation of the aorta in the hypertensive patient, perform at
least one observation comparing: Other tests to consider
1. the volume and timing of the radial and femoral pulses Echocardiogram

2. the BP in the arm and leg Carotid (and femoral) ultrasound

3. comparison of BP in the two arms HbA1c (when fasting glucose ≥6.1 mmol/L or 110 mg/dL)

An alternative screening test for both coarctation of the aorta and peripheral vascular disease is Fundoscopy (in severe hypertension)
the ankle brachial index (ABI), using an office doppler ultrasound to compare blood pressures in
These other investigations, including echocardiography, kidney imaging studies (especially
kidney doppler ultrasound), 24-hour urinary catecholamines, aldosterone and plasma renin, are
not routine and should be performed if specifically indicated (e.g. suspected primary
hyperaldosteronism). A chest X-ray may serve as a baseline against which to measure future
changes. However, if a chest X-ray shows the heart is enlarged, it is more likely to represent
chamber dilatation than increased ventricular wall thickness.7 Specific kidney studies now
favoured include isotope scans, duplex ultrasound studies of kidney arteries and kidney
arteriography.
Treatment
A correct diagnosis is the basis of management. Assuming that the uncommon secondary causes
are identified and treated, treatment will focus on essential hypertension.
Benefits of treatment
Trials have shown that lowering BP reduces:
cardiovascular and total mortality
stroke
coronary events
Benefits have been proven:
in those with systolic/diastolic hypertension
in elderly patients with isolated systolic hypertension
Principles of management6
The overall goal is to improve long-term survival and quality of life. Page 909
Promote an effective physician–patient working relationship.
Aim to reduce the levels to 140/90 mmHg or less (target varies with circumstance).
Undertake a thorough assessment of all cardiovascular risk factors.
Instruct all patients in the use of non-drug treatment strategies and their potential benefits. The
benefits of exercise and healthy diet go far beyond what will be measurable by merely
observing their effect on hypertension.
In patients with mild-to-moderate hypertension and no target organ damage, consider
ambulatory or home BP monitoring before deciding to start medication.
Drug therapy should be given to those with:
sustained high initial readings (e.g. DBP 100 mmHg)
target organ damage
failed non-drug measures
high CV risk where BP is above hypertensive guideline thresholds
Make a careful selection of an antihypertensive drug and an appraisal of the side effects
against the benefits of treatment.
Avoid drug-related problems such as postural hypotension.
Avoid excessive, rapid lowering of BP—aim for steady and graduated control.
Engage the patient to help counter the problem of non-adherence.
Patient education
Patient education should include appropriate reassurances, clear information and easy-to-follow
instructions. It is important to establish patients’ understanding of the concept of hypertension
and its consequences by quizzing them about their knowledge and feelings.
Correction of patients’ misconceptions7
Patients are likely to have several misconceptions about hypertension that may adversely affect
their treatment.
For example, they might believe that:
hypertension can be cured
they do not need to continue treatment once BP is controlled
they do not have a problem because they do not have symptoms
they need to take additional pills, or stop treatment in response to symptoms they believe are
caused by high or low BP levels
they need not take prescribed pills if they attend to lifestyle factors such as exercise and diet
(this is occasionally the case, but needs careful oversight by the GP)
they can gauge their BP by how they feel
Tips for optimal compliance
 Establish a good, caring rapport. Some individuals seem to be more sensitive to salt restriction. Advise patients to put away the
salt shaker and use only a little salt with their food. Reduction of sodium intake to less than
Give advice about pill-taking times. A 2019 trial suggests that bedtime dosing may reduce 100 mmol sodium per day is advised. Special care should be taken with processed and take-
cardiovascular events,11 but the best routine is one the patient remembers reliably. away foods.

Set therapeutic goals. Increased exercise and regular physical activity

Establish a recall system. Regular aerobic or isotonic exercise helps to reduce BP.10 Hypertensive patients beginning an
exercise program should do so gradually. Walking is an appropriate exercise, ideally 150–300
Provide patient education material. minutes each week.
On review: Reduction of particular stress
Ask if any pills were missed by accident. If avoiding stress or overwork is difficult, recommend relaxation and/or meditation therapy.
Review all cardiovascular risk factors. Other dietary factors for a healthy eating plan
Enquire about any side effects. There is evidence that lacto–vegetarian diets and diets high in vegetables, fruits and whole
grains can reduce BP.6 A diet high in calcium, and low in fat and caffeine, may also be
Non-pharmacological (lifestyle) management beneficial. Avoid or minimise liquorice.

measures Smoking

If the average diastolic BP at the initial visit is 90–100 mmHg, and there is no evidence of end Smoking causes acute rises in BP but does not appear to cause sustained hypertension.
organ damage, non-pharmacological therapy is indicated for a 3-month period without use of However, the elimination of smoking is important as it is a strong risk factor for
antihypertensive drugs. Remember to remove, revise or substitute drugs that may be causing cardiovascular disease and continuing to smoke may negate any cardiovascular benefits of
hypertension (e.g. NSAIDs, corticosteroids, oral contraceptives, hormone replacement therapy). antihypertensive therapy.7

Management of sleep apnoea

Behaviour intervention measures
A 2014 systematic review found that CPAP reduces BP in those with obstructive sleep apnoea
Weight reduction and hypertension, although only by a small amount (2–3 mmHg).13
There is considerable evidence that weight loss and gain are linked to a corresponding fall and
rise in BP. Hovell has estimated that for every 1 kg of weight lost, BP dropped by 2.5 mmHg Pharmacological therapy
systolic and 1.5 mmHg diastolic.12 The BMI should be calculated for all patients and where
appropriate a weight-loss program organised to target waist measurement to <94 in males and The benefits of drug therapy appear to outweigh any known risks to individuals with a
<80 in females or reduce the BMI to around 25. persistently raised diastolic pressure >95 mmHg. Although the ideal antihypertensive drug has
yet to be discovered, there are many effective drugs available from all the major classes of
Reduction of excessive alcohol intake7 antihypertensive drugs.14 Deciding which one to use first involves an assessment of the patient’s
general health, the medication’s known side effects, the simplicity of its administration and its
The direct pressor effect of alcohol is reversible. Drinking more than 20 g of alcohol Page 910 cost. A useful plan is outlined in FIGURE 77.5 .
a day raises BP and makes treatment of established hypertension more difficult.
People with hypertension should limit their alcohol intake to one or two standard drinks
(10–20 g) per day. Reduction or withdrawal of regular alcohol intake reduces BP by
5–10 mmHg.

Reduction of sodium intake to ≤4 g/day

 Do not combine ACE with ARB (increased side effects for little benefit).

β2-antagonists are not routine first-line treatment unless they will also be useful for a
coexisting condition.

Prazosin and other α-antagonists are also sometimes used as monotherapy and may
be combined with any of the above drug groups.

Small doses of centrally acting anti-adrenergic drugs (e.g. methyldopa, clonidine) can
probably also be used with any of the other agents although data on their use in
combination are scarce with the newer drug groups.
Source: Adapted from Management of hypertension: a consensus statement, Med J Aust, 1994; 160: Supplement 21 March. © Copyright 1994.
The Medical Journal of Australia. Reproduced with permission.

Various disorders such as diabetes, asthma, COPD, Raynaud phenomenon, heart failure and
elevated serum urate and/or lipid levels may restrict the use of some classes of drugs.

Who to treat6
Failed genuine non-pharmacological trial

Treat those at high CV risk (>15% 5-year CV risk, established CV disease, diabetes with
either age >60 or persistent proteinuria)

For those with >10% 5-year CV risk, treat if SBP >140 mmHg or DBP >90 mmHg

For those with <10% 5-year CV risk, treat if SBP >160 mmHg or DBP >100 mmHg (For
treatment targets, see TABLE 77.7 )
FIGURE 77.5 Common combinations of the therapeutic drug classes used for
first-line therapy of hypertension
Table 77.7 BP treatment targets for adults (mmHg)6,15
Adjacent drug classes are useful combinations in that effects on BP are additive but
adverse effects are no more likely than with either drug used alone.
People with proteinuria >1 g/day (with or without <125/75
Non-dihydropyridine CCBs: verapamil (V) and diltiazem (D) generally should not be diabetes)
used with β2-antagonists (beta blockers).
People with associated condition(s) or end-organ <130/80
Drug groups that are diametrically located on the diagram may be used together, but damage:
may not have fully additive effects. coronary heart disease
diabetes
Drugs on the left side should be combined in patients with hypertension and heart
failure, and those on the right side are useful in patients with hypertension and chronic kidney disease
coexisting coronary disease. proteinuria (>300 mg/day)
stroke/TIA
Drug groups in the lower half lack metabolic effects and may be preferred
combinations in the presence of diabetes or lipid abnormalities as well as People with none of the above <140/90 or lower if
hypertension. tolerated
 Verapamil SR
120–180 mg daily
Guidelines15
Recommended in
Start with a single drug at low dose.
Heart failure (mild) Pregnancy Asthma Left ventricular Left ventricular
A period of 4–6 weeks is needed for the effect to become fully apparent. Glaucoma Stable angina heart failure heart failure
Stable angina PVD PVD Diabetes
If ineffective, consider increasing the drug to its maximum recommended dose, or add an
Postmyocardial Raynaud Diabetes PVD
agent from another compatible class, or substitute with a drug from another class.
infarction phenomenon Raynaud ACEI-induced
Use only one drug from any one class at the same time. Migraine Post AMI cough
Post AMI
A summary of first-line therapy options and the uses of the various pharmacological agents is
shown in TABLE 77.8 . Contraindications
Asthma/COPD Heart block 2nd Bilateral Pregnancy
Measure the BP at the same time each day. and 3rd degree kidney artery
Hyperuricaemia/gout History of Severe kidney
Consider asking patients to self-measure. wheeze Heart failure stenosis failure
Heart failure (verapamil, Pregnancy Hyperkalaemia
Patients commonly require two or more agents to reach BP targets. Heart block diltiazem) Hyperkalaemia
(2nd and 3rd Tachyarrhythmias Angioedema
degree)
PVD
First-line pharmacological options for the management of hypertension6,15,16 (standard
Brittle type l
diabetes

Drug class
Calcium-channel Avoid abrupt Caution using with Chronic kidney Electrolyte
Beta blocker ACE inhibitor ARB (sartans)
blocker cessation with beta blockers, disease imbalance
mples and starting dose (oral therapy) angina digoxin and in Caution using Renal
Caution using CCF with K-sparing impairment
Atenolol Dihydropyridine Enalapril 5 mg Candesartan
25–50 mg daily CCBs daily 8 mg daily with verapamil, diuretics and Hepatic
NSAIDs and in NSAIDs impairment
othiazide Metoprolol Amlodipine Lisinopril 5 mg Eprosartan
smokers
50 mg daily 2.5 mg daily daily 600 mg daily
Pindolol 5 mg Felodipine SR Perindopril Irbesartan Important side effects
daily 2.5 mg daily 2.5 mg daily 150 mg daily Fatigue Headache Cough Headache
Propranolol Lercanidipine Ramipril Losartan Sexual dysfunction Insomnia Flushing Weakness Dizziness
daily 40 mg daily 10 mg daily 2.5 mg daily 50 mg daily
Vivid dreams Ankle oedema Rash Orthostatic
Nifedipine CR Fosinopril Olmesartan hypotension
20 mg daily 10 mg daily 10 mg daily Bronchospasm Palpitations Dysgeusia
Cold Dizziness (taste) Fatigue
Non- Quinapril 5 mg Telmisartan
dihydropyridine daily 40 mg daily extremities Nausea Hyperkalaemia Weakness
Diltiazem CD Trandolapril Valsartan Sexual Constipation First dose Hyperkalaemia
180 mg daily 1 mg daily 80 mg daily dysfunction (verapamil) hypotension Allergies
 Lipid Nocturia, urinary Angioedema Angle closure
metabolism frequency glaucoma
effect Gum hyperplasia

Starting regimens
In patients with uncomplicated hypertension, ACE inhibitors or ARBs, calcium-channel Page 911
blockers and thiazides are all suitable first-line antihypertensive drugs, either as monotherapy or
in some combinations unless contraindicated.

The traditional method has been to use stepwise therapy until ideal control has been reached,
commencing with:

Starting medication
1. ACE inhibitor or ARB especially if ≥55 years
FIGURE 77.6 Decision tree for managing hypertension2
or
calcium-channel blocker (CCB) As recommended by the National Heart Foundation
or
low-dose thiazide diuretic The following are useful combinations:10,18 Page 912
(if aged ≥65 years) Page 913

2. If target not reached after 3 months: combination

Initial agent Additional drugs
ACEI or ARB + CCB (best evidence)17 Thiazide diuretic ACEI/ARB
or or
ACEI or ARB + thiazide
or CCB
ACEI or ARB + beta blocker or
beta blocker
3. If target not reached:
Beta blocker Diuretic
ACEI/ARB + CCB + thiazide
or
4. If still not reached use spironolactone or seek specialist advice dihydropyridine calcium-channel blocker
ACE inhibitor or ARB Diuretic
or
beta blocker
or
calcium-channel blocker

Relatively ineffective combinations10
Diuretic and calcium-channel blocker
Beta blockers and ACE inhibitors
Undesirable combinations10,15
More than one drug from a particular pharmacological group:
beta blockers and verapamil (heart block, heart failure)
potassium-sparing diuretics and ACE inhibitors or ARB (hyperkalaemia)
ACEI and ARB
Diuretics10,16
Thiazides are good first-line therapy for hypertension.
Hypokalaemia can be corrected with potassium-sparing diuretics or by changing to another
first-line drug.
Loop diuretics (e.g. frusemide) are less potent as antihypertensive agents but are indicated
where there is concomitant cardiac or kidney failure and in resistant hypertension.
Thiazides are less effective where there is kidney impairment.
Thiazides may precipitate acute gout.
NSAIDs may antagonise the antihypertensive and natriuretic effectiveness of diuretics.
A diet high in potassium and magnesium should accompany diuretic therapy (e.g. lentils, nuts,
high fibre).
Avoid use if significant dyslipidaemia.
Indapamide has different properties to the thiazide and loop diuretics and has less effect on
serum lipids.
Beta blockers
NSAIDs may interfere with the hypotensive effect of beta blockers.
If BP is not reduced by one beta blocker it is unlikely to be reduced by changing to another.
Verapamil plus a beta blocker may unmask conduction abnormalities causing heart Page 914
block.
In patients with ischaemic heart disease, or susceptibility to it, treatment must not be stopped
suddenly—this can precipitate angina at rest.
Calcium-channel blockers
These drugs reduce BP by vasodilatation.
The properties of individual drugs vary, especially their effects on cardiac function.
The dihydropyridine compounds (nifedipine and felodipine) tend to produce more
vasodilatation and thus related side effects.
Unlike verapamil or diltiazem (which slow the heart), dihydropyridine drugs can be used
safely with a beta blocker.
Verapamil is contraindicated in second and third degree heart block.
Verapamil and diltiazem should be used with caution in patients with heart failure.
These drugs are efficacious with ACE inhibitors, beta blockers, prazosin and methyldopa.
ACE inhibitors
Angiotensin-converting enzyme (ACE) is responsible for converting angiotensin I to angiotensin
II (a potent vasoconstrictor and stimulator of aldosterone secretion) and for the breakdown of
bradykinin (a vasodilator). ACE inhibitors are effective in the elderly; improve survival and
performance status in cardiac failure; are protective of kidney function in diabetes; and are
cardioprotective after myocardial infarction.
Disturbance in taste is usually transitory and may resolve with continued treatment. Cough,
which occurs in about 15% of patients, may disappear with time or a reduction in dose but it
often persists and may require a change in drug. Angioedema, a potentially life-threatening
condition, may occur in 0.1–0.2% of subjects. Like cough, it is a class effect and will mitigate
against the use of any ACE inhibitor. The Heart Outcomes Prevention Evaluation (HOPE)19 trial
demonstrated that ramipril reduces the number of cardiovascular deaths, non-fatal myocardial
infarctions, non-fatal strokes and instances of new onset heart failure in a high-risk population.
The data also indicated that people with diabetes, microalbuminuria or pre-existing vascular
disease can benefit from ACEI treatment, even if normotensive.18,19
Angiotensin II receptor antagonists (sartans)
These agents competitively block the binding of angiotensin II to type I angiotensin receptors
and block the effects of angiotensin more selectively than the ACE inhibitors. This reduces
angiotensin-induced vasoconstriction, sodium reabsorption and aldosterone release. The action
of the ACEIs and ARBs on the renin–angiotensin–aldosterone pathway system is illustrated in
FIGURE 77.7 . They have a similar adverse kidney and other effects to the ACE inhibitors but
cough does not appear to be a significant adverse effect. This group is used for mild-to-moderate
hypertension alone or with other antihypertensive agents. They are useful alternatives for patients
who discontinue an ACE inhibitor because of cough. They may be used in combination with
thiazide diuretics.
FIGURE 77.7 Drugs targeting the renin–angiotensin–aldosterone system
Alpha blockers: prazosin and terazosin
Not recommended as first-line therapy.
A specific problem of alpha blockers is the ‘first-dose phenomenon’; this involves acute syncope
about 90 minutes after the first dose, hence treatment is best initiated at bedtime. Prazosin
potentiates beta blockers and works best if used with them. It is a useful second-line therapy in
patients who are unsuitable for diuretic or beta blocker therapy (e.g. those with diabetes, asthma
or hyperlipidaemia).
Vascular smooth muscle relaxants
Other than calcium-channel blockers, these include hydralazine, minoxidil and Page 915
diazoxide, which are not used for first-line therapy but for refractory hypertensive states and
hypertensive emergencies.
Sympathetic nervous system inhibitors
These reduce peripheral sympathetic activity by inhibiting the sympathetic nervous system.
Methyldopa and clonidine may be used during pregnancy.
Hypertensive emergencies15
A hypertensive emergency occurs when high BP causes the presenting cardiovascular problem.
Typical presentations of hypertensive emergencies (which are rare) include hypertensive
encephalopathy, acute stroke, heart failure, dissecting aortic aneurysm and eclampsia.
Symptomatically patients may present with headache and confusion.
In all such cases referral to hospital via the emergency department is essential for urgent
monitoring and treatment. Treatment must be individualised, mindful of the nature of the
underlying problem and associated disorders.
The BP lowering must be gradual because a sudden fall can precipitate a stroke. Aim to reduce
the BP by no more than 25% within the first 2 hours, then towards 160/100 mmHg within 2 to 6
hours.15
Treatment is with a dihydropyridine CCB and/or an ACE inhibitor. Otherwise, sodium
nitroprusside IV in an intensive care setting is the optimal treatment.
Magnesium sulphate (in addition to antihypertensives) reduces the risk of eclampsia and
maternal death in women with pre-eclampsia (see CHAPTER 100 ).
Refractory hypertension
Refractory hypertension exists where control has not been achieved despite reasonable treatment
for 3–4 months. A review of possible secondary causes is appropriate. Consider non-adherence,
sleep apnoea, hypertensive effects of other drugs, undisclosed use of alcohol and recreational
drugs, and also spurious factors (e.g. instrument factors such as small cuff, ‘white coat’
hypertension).
When adequate control is not possible and the cause is not obvious, refer to a specialist.
Measurement outside the clinic may help in the assessment of such people, as may 24-hour
ambulatory monitoring.
Hypertension in children and adolescents
BP is less frequently measured in children for a number of reasons, including the lower chances
of finding any abnormality, the unavailability of an appropriately sized cuff or difficulty in
measuring BP in the infant or toddler.
The children of parents with hypertension should be closely watched. Those at risk of secondary
hypertension (e.g. kidney or cardiovascular disease, urological abnormalities and diabetes
mellitus) should have routine measurements. Children with visual changes, recurrent headache or
abdominal pain, seizures and those on drugs such as corticosteroids or oral contraceptives should
have their BP checked regularly.
Although secondary causes of hypertension are proportionally more common in children than in
adults, young people are still more prone to developing essential rather than secondary
hypertension. Kidney parenchymal disease and kidney artery stenosis are the major secondary
causes.
The upper limits of normal BP for children in different age groups are:7
Age (in years) Arterial pressure (mmHg)
5 or less 110/75
6–9 120/80
10–13 125/85
14–18 135/90
The proper cuff size is very important to avoid inaccurate readings and a larger rather than a
smaller cuff is recommended. The width of the bladder should cover 75% of the length of the
upper arm. In infants and toddlers, use of an electronic unit may be necessary. Although
cessation of sound (phase 5) is the better reflection of true diastolic pressure, there is often no
disappearance of sound in children and so estimation of the point of muffling (phase 4) is
recorded instead.
Diagnostic evaluation and drug treatment for children are similar to those for adults. Strongly
consider specialist referral. When a child is obese, reduction in weight may adequately lower BP.
ACE inhibitors or calcium-channel blocking agents are preferable in children, with diuretics a
second agent. ACE inhibitors should be avoided in postpubertal females.
Hypertension in the elderly
BP shows a gradual increasing linear relationship with age.
Guidelines for treatment
Page 916
Isolated systolic hypertension is worth treating.20
Older patients may respond to non-pharmacological treatment.
Reducing dietary sodium is more beneficial than with younger patients.
If drug treatment is necessary, commence with half the normal recommended adult dosage
—‘start low and go slow’.
Patients over 75 years and in good health should be treated the same as younger patients.
Studies indicate that benefits are still significant. However, weigh this against the fact that
harms (e.g. falls risk) may be greater.
Reduce BP gradually.
Drug reactions are a limiting factor.
Drug interactions are also a problem: these include NSAIDs, antiparkinson drugs and
phenothiazines.
Specific treatment
First-line choice: indapamide (preferred) or thiazide diuretic (low dose);7 check electrolytes in
2–4 weeks: if hypokalaemia develops, add a K-sparing diuretic rather than K supplements.
Diuretics may aggravate bladder difficulties (e.g. incontinence).
Second-line choice: ACE inhibitors (or ARB) especially with heart failure.
Other effective drugs (especially for isolated systolic hypertension):
beta blockers (low dose) where diuretic cannot be prescribed or if angina
calcium-channel blockers
Both these classes are generally well tolerated but constipation may be a problem with
verapamil.
Kidney function and electrolytes should be monitored when ACE inhibitors are started.
Step-down treatment of mild hypertension10
Special management problems This is an important concept that recognises that drug treatment need not necessarily be lifelong.
If BP has been well controlled for several months to years it is often worth reducing the dosage
These conditions are summarised in TABLE 77.9 . or the number of drugs.

The general ‘deprescribing’ rule of thumb is that a drug (or its specific dosage) should only be
continued if the expected benefits justify its continuation.
Table 77.9 Choice of drugs in patients with coexisting conditions7
A ‘drug holiday’ (cessation of treatment) can be hazardous, however, because Page 917
satisfactory control may be temporary and hypertension will re-emerge. Careful
Calcium- monitoring under such circumstances is mandatory.
ACE Beta
Diuretic channel
inhibitors/ARBs blockers
blockers
Asthma/COPD ✓ ✓ ✓ ✗
When to refer
Caution
Refractory hypertension—adequate control not possible and cause not obvious
Bowel disease/constipation ✗ ✓ ✗ ✗
Bradycardia/heart block ✓ ✓ Care ✗ Suspected ‘white coat’ hypertension—refer for ambulatory BP monitoring
Cardiac failure ✓* ✓* Care ✗ Severe hypertension—diastolic BP >115 mmHg
Depression ✓ ✓ ✓ Care ✗
Hypertensive emergency
Diabetes ✗ ✓* ✓ ✗ Care
Dyslipidaemia ✗ ✓ ✓ ✗ Evidence of ongoing target organ impairment and BP inadequately controlled

Hyperuricaemia/gout ✗ ✓* ✓* ✗ Significant kidney impairment eGFR <30 mL/min

Impotence ✗ ✓ ✓ ✗
A treatable cause of secondary hypertension is found
Ischaemic heart disease ✓ ✓ ✓* ✓*
Peripheral vascular ✓ ✓ ✓* ✗ Practice tips
disease
Pregnancy ✗ ✗ ✓ ✓ Not Hypertension should not be diagnosed on a single reading.
in late
term At least two follow-up measurements with average systolic pressure >140 mmHg
Raynaud phenomenon ✓ ✓ ✓* ✗ or diastolic pressures >90 mmHg are required for the diagnosis.
Kidney artery stenosis ✓ ✗ ✓* ✓* Beware of using beta blockers in a patient with a history of wheezing.
Care Care
Kidney failure ✓ Care ✓ ✓ Add only one agent at a time and wait about 4 weeks between dosage
adjustments.
Tachycardia (resting) ✗ ✗ Care ✓*
Excessive intake of alcohol can cause hypertension and make treatment difficult.
*Drugs of choice
If hypertension fails to respond to therapy, an underlying kidney or adrenal lesion
Note: Calcium-channel blockers need to be selected with care—some are suitable, others not. may have been missed.
 The low-pitched bruits of kidney artery stenosis are best heard by placing the
diaphragm of the stethoscope firmly in the epigastric area.
Older patients may respond better to diuretics, calcium-channel blockers and ACE
inhibitors.
Younger patients may respond better to beta blockers or ACE inhibitors.
Patient education resource
Hand-out sheet from Murtagh’s Patient Education 8th edition:
Hypertension
References
1 Australian Institute of Health and Welfare 2019. High blood pressure . Cat. no. PHE 250.
Canberra: AIHW. Available from: https://www.aihw.gov.au/reports/risk-factors/high-
blood-pressure, accessed April 2021.
2 Nichols M et al. Australian heart disease statistics 2015. Melbourne: National Heart
Foundation, 2016.
3 Practice guidelines for primary care physicians: 2003 ESH/ESC Hypertension Guidelines.
J Hypertens, 2003; 21(10): 1779–86.
4 Guidelines Subcommittee 1999. WHO–ISH guidelines for the management of
hypertension. J Hypertens, 1999; 17: 151–83.
5 National Vascular Disease Prevention Alliance. Guidelines for the management of
absolute cardiovascular disease risk 2012. National Stroke Foundation, 2012: 6–7.
Available from: https://www.heartfoundation.org.au/getmedia/4342a70f-4487-496e-bbb0-
dae33a47fcb2/Absolute-CVD-Risk-Full-Guidelines_2.pdf, accessed April 2021.
6 National Heart Foundation of Australia. Guideline for the diagnosis and management of
hypertension in adults 2016. Melbourne: National Heart Foundation of Australia, 2016.
Available from: www.heartfoundation.org.au/for-professionals/clinical-
information/hypertension, accessed April 2021.
7 Sandler G. High blood pressure. In: Common Medical Problems. London: Adis Press,
1984: 61–106.
8 Royal Australian College of General Practitioners. Guidelines for Preventive Activities in
General Practice (9th edn). Melbourne: RACGP, 2016: 87–9.
Bates B. A Guide to Physical Examination and History Taking (5th edn). Philadelphia:
9
Lippincott, 1991: 284.
10 National Heart Foundation of Australia. Guide to Management of Hypertension. Canberra:
National Heart Foundation of Australia, 2008 (updated 2014).
11 Hermida RC et al. Bedtime hypertension treatment improves cardiovascular risk reduction:
the Hygia Chronotherapy Trial. Eur Heart J, 2020; 41(48): 4565–76.
12 Hovell MF. The experimental evidence for weight loss treatment of essential hypertension:
a critical review. Am J Public Health, 1982; April 72(4): 359–68.
13 Fava C et al. Effect of CPAP on blood pressure in patients with OSA/hypopnea. Chest,
2014; 145(4): 762.
14 Jennings G, Sudhir K. Initial therapy of primary hypertension. Med J Aust, 1990; 152:
198–202.
15 Hypertension [updated 2018]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited, 2018. www.tg.org.au, accessed September 2017.
16 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2017: 241–3.
17 Law MR, Morris JK, Wald NJ. Use of blood pressure lowering drugs in prevention of
cardiovascular disease: meta analysis of 147 randomised trials in the context of
expectations from prospective epidemiological studies. BMJ, 2009 May 19; 338: b1665.
18 Kjeldsen SE et al. Avoiding Cardiovascular events through COMbination therapy in
Patients LIving with Systolic Hypertension investigators. Predictors of blood pressure
response to intensified and fixed combination treatment of hypertension: the
ACCOMPLISH study. Blood Press, 2008; 17: 7–17.
19 Yusef S et al. Effects of an angiotensin-converting inhibitor, ramipril, on cardiovascular
events in high risk patients. N Engl J Med, 2000; 342: 145.
20 SHEP Cooperative Research Group. Prevention of stroke by antihypertensive drug
treatment in older persons with isolated systolic hypertension. JAMA, 1991; 265: 3255–
64.
 Page 918

As with other cardiovascular risk factors, focussing on any one measure (in this case, lipid
profile) is only part of the whole-person approach to reducing risk.

78 Dyslipidaemia The main focus of treatment will be on primary dyslipidaemia but secondary causes (see
TABLE 78.2 ) also need to be addressed. LDL-C is the lipid with the highest correlation with
CHD and its level remains the primary target of lipid-modifying therapy. The statins are the first-
line therapy for a raised level. Like total cholesterol measurement, LDL-C should not be used in
isolation.

The landmark Scandinavian Simvastatin Survival Study (4S) published in 1994, may well be
remembered as the study that finally put to rest many of the apprehensions and misconceptions Table 78.2 Common causes of secondary
regarding lipid-lowering therapy. dyslipidaemia

DUFFY AND MEREDITH 19961 Hypothyroidism

Nephrotic syndrome
Dyslipidaemia is the presence of an abnormal lipid/lipoprotein profile in the serum and can be
Type 2 diabetes
classified as:
Cholestasis
predominant hypertriglyceridaemia Anorexia nervosa
Obesity
predominant hypercholesterolaemia
Kidney impairment
mixed pattern with elevation of both cholesterol and triglyceride (TG) Smoking
Alcohol excess
Modern epidemiological studies have established the facts that elevated plasma cholesterol
causes pathological changes in the arterial wall leading to CAD, and that lipid-lowering through Oestrogen therapy
lifestyle factors or drug therapy results in reduction of coronary and cerebrovascular events with Obstructive liver disease
improved survival.

A Cochrane systematic review2 of 18 large RCTs found high-quality evidence that statins reduce
all-cause mortality and major vascular events. The number needed to treat (NNT) with statins Established facts4,5,6
varies markedly depending on the risk category the person falls into (see TABLE 78.1 ).
Major risk factors for CAD include:

increased LDL cholesterol + reduced HDL cholesterol

Table 78.1 Number needed to treat (NNT) with a
statin for ratio LDL-C:HDL-C >4
1 year to prevent 1 death2
Risk increases with increasing cholesterol levels
Risk level NNT TG level >10 mmol/L increases risk of pancreatitis
<5% five-year CV risk 835
Management depends on other cardiovascular risk factors
5–10% five-year CV risk 335
Previous cardiovascular event—high risk3 165 10% reduction of total cholesterol gives 20% reduction in CAD after 3 years
 Patients not eligible under the above: Cholesterol
LDL-C reduction with statin therapy reduces heart attacks, stroke, the need for >7.5 mmol/L
men 35–75 years
revascularisation and death
postmenopausal women up to 75 years or
Screening is recommended 5 yearly from age 45 years (Aboriginal and Torres Strait Islander Triglyceride
people from 35 years) >4 mmol/L
Patients not otherwise included in the above Cholesterol
Investigations 5
>9 mmol/L
or
The following fasting tests are recommended in patients every 5 years, starting at age 45 years: Triglyceride
>8 mmol/L
serum cholesterol level, HDL-C, LDL-C and triglyceride (TG)

Confirm an initial high result with a second test at 6–8 weeks. Those at moderate risk Page 919
(5-year CV risk >10%) should have a screening test every two years. Commence
testing at 35 years of age if Aboriginal or Torres Strait Islander.
Recommended treatment goals7
All patients should receive advice and support regarding lifestyle risk management. Patients
requiring pharmacological treatment are summarised in TABLE 78.3 . Total cholesterol <4.0 mmol/L

LDL-C <2.0 mmol/L*

Table 78.3 HDL-C ≥1.0 mmol/L

Patients requiring treatment (PBS guidelines)4
Non-HDL-C <2.5 mmol/L
Initiate drug
Risk category therapy if lipid TG <2 mmol/L
level (mmol/L) is
NVDPA guidelines7 note there appears to be no major difference between dose
Patients with existing symptomatic coronary heart Any level titration regimens or use of a fixed dose in studies of longer duration. The majority
disease, peripheral vascular disease and of benefit from statins results at the lower doses, with less added benefit as doses
cerebrovascular disease are increased towards maximum. Therefore treatment should aim towards these
Patients with diabetes PLUS one of microalbuminuria; targets rather than consider them definitive.
age >60; Aboriginal or Torres Strait Islander
Family history of coronary heart disease (one first-
degree relative <45 years of age, or two <55 years)
Non-pharmacological measures6
Aboriginal and Torres Strait Islander patients with Cholesterol
hypertension >6.5 mmol/L Dietary measures:
Family history of coronary heart disease (one first- or
degree relative <60 years of age, or one second- Cholesterol keep to ideal weight (as for cardiovascular disease, see CHAPTER 75 )
degree relative <50 years) >5.5 mmol/L
reduce saturated and trans fat intake, especially dairy products and meat
and
HDL <1 mmol/L avoid fast foods and deep-fried foods
Patients with HDL <1 mmol/L Cholesterol replace saturated fats with mono or polyunsaturated fats
>6.5 mmol/L
Patients not eligible under the above: Cholesterol
 use approved cooking methods (e.g. steaming, grilling) Atorvastatin 10–80 mg ↑ cholesterol Muscle pains, Liver
Pravastatin 20–80 mg (total or LDL-C) raised liver enzymes:
trim fat off meat, remove skin from chicken enzymes creatine
Simvastatin 10–80 mg
kinase and
avoid biscuits and cakes between meals Fluvastatin 20–80 mg ALT
Rosuvastatin 5–40 mg
high-fibre diet, especially fruit and vegetables (to increase soluble fibre)
Bile acid
introduce plant sterol-enriched milk, margarine or cheeses binding resins
alcohol intake 0–2 standard drinks/day Cholestyramine 4–8 g ↑ cholesterol GIT
Colestipol daily–bd dysfunction,
drink more water 5–10 g drug
daily–bd interactions
Encourage physical activity: regular exercise program
Fibrates
Cease smoking
Gemfibrozil 600 mg ↑ triglycerides, GIT Liver
Cooperation of family is essential Fenofibrate bd mixed dysfunction, enzymes,
145 mg hyperlipidaemia myositis; coagulation
Exclude secondary causes (e.g. kidney disease, type 2 diabetes, hypothyroidism, obesity, daily Gemfibrozil
alcohol excess—especially ↑ TG), specific diuretics relatively
contraindicated
with statins
Checkpoints
Other agents
Diet therapy effective (TG ↓, LDL-C ↓) within 6–8 weeks Ezetimibe 10 mg ↑ cholesterol Arthralgia, Liver
daily myalgia, enzymes
If dietary change is successful, continue at least 6 months before considering drug therapy in myositis, liver
all but the highest-risk category dysfunction
Nicotinic acid 250 mg bd ↑ cholesterol Flushing Glucose
Pharmacological measures to and (common), urate
1000 mg triglycerides raised glucose, Liver
The choice of the lipid-lowering agent depends on the pattern of the lipid disorder.5,6 See bd–tds urate and liver enzymes
TABLE 78.4 . Use the following agents in addition to diet. enzymes Increase
dose
Page 920 slowly
Fish oils n-3 2 g daily ↑ triglycerides Minimal Bleeding
Table 78.4 Lipid-lowering drugs fatty acids time

Dose Safety
Drug Usage Adverse effects
(average) monitoring
Treatment should commence with a statin. If LDL-C levels are not reduced to target levels or a
The statins Dose maximally tolerated dose on a statin, add one of ezetimibe,5,8 bile acid binding resin or nicotinic
range acid. These agents can be used as monotherapy if statins cannot be tolerated.
from
starting
Hypercholesterolaemia especially ↑ LDL-C 2. Combined statin and resincholestyramine 4–8 g (o) mane
plus
Choose from the following.6,9 a statin

First-line agent Moderate to severe (isolated or predominant) TG

elevation6
1. HMG-CoA reductase inhibitors (statins—see TABLE 78.4 ): supported by evidence but be
cautious in patients with muscle or hepatobiliary disease. Typical reduction is 30–50%.9 Fibrate:
Adverse effects: GIT side effects, myalgia, abnormal liver function (uncommon) gemfibrozil 600 mg (o) bd
Monitor: measure LFTs (ALT and CPK) and CK as baseline or
Repeat LFTs after 4–8 weeks. It is no longer recommended to continue to monitor these fenofibrate 145 mg (o) daily
unless patient becomes symptomatic.5
Note: Slow response; monitor LFTs; predisposes to gallstones and myopathy
Additional drug therapy (options):
and/or
2. Ezetimibe 10 mg daily (especially if statin-intolerant). Reduces LDL by about 18%.9
n-3 fish oil concentrate 6 g (o) daily in divided doses to max. 15 g/day
3. Combination: ezetimibe + statin (consider if cholesterol above target)8
add
4. Bile acid binding resins (typically reduce LDL by 15–24%):
nicotinic acid if insufficient response
e.g. cholestyramine 4 g daily in fruit juice increasing to maximum tolerated dose (often
poorly tolerated) Note: Statins are not effective at reducing triglycerides, but may be indicated to reduce overall
CV risk. Reduction in alcohol intake is important.
adverse effects: GIT side effects (e.g. constipation, offensive wind)

5. Fibrates: consider if above drugs not tolerated (e.g. fenofibrate 145 mg (o) daily—special care
Massive hypertriglyceridaemia (TG) 10 mmol/L
with renal impairment) Fibrate plus fish oil plus (if necessary) nicotinic acid
6. Nicotinic acid
Mixed hyperlipidaemia (↑ TG + ↑ LDL-C)
nicotinic acid 250 mg (o) bd with food daily, increase gradually to max. 1000 mg tds if
necessary (effective lipid reduction) If TG <4: a statin

adverse effects: flushing (common), gastric irritation, gout If TG >4: a fibrate

minimise side effects with gradual introduction; take with food Consider combination therapy, e.g.:

7. Evolocumab: an injectable PCSK9 monoclonal antibody agent for familial Page 921 fish oil + statin
hypercholestoerolaemia and muscle-related statin intolerance10
fibrate + resin
Resistant LDL-C elevation Note: Statin + gemfibrozil increases risk of myopathy and should ideally be avoided.
1. Combination statin + ezetimibe
Familial hypercholesterolaemia11
This is a dominant inherited condition causing accelerated cardiovascular disease by 20–40
years. Diagnosis requires exclusion of secondary causes, e.g. nephrotic syndrome. Refer to
Dutch lipid diagnostic criteria.11
Special considerations
The decision to commence drug therapy should be based on at least two separate measurements
at an accredited laboratory.
Be careful with beta blockers and diuretics affecting lipid levels.
Length of treatment
Possibly lifelong, although the need to consider deprescribing may become the priority with age
over 75 years and increasing frailty or reduced life expectancy.
Follow-up investigations
Serum lipids (overly frequent testing is widespread—for those on therapy, don’t monitor
levels more often than 6–12 monthly without good reason)
LFTs (ALT and CPK)
Possibly CK
Biochemical monitoring
Special groups
Children
In general there is little justification for using lipid-regulating drugs in children, especially as the
drugs have been shown to reduce heart disease within 2–5 years in adults.6 Initial dietary advice
and avoidance of smoking is recommended. Bile acid binding resins are safe to use.
The elderly
A 2019 cohort study based in primary care looked at statins for primary prevention in those aged
>74 years.12 It suggested statins were not associated with a reduction in mortality or
cardiovascular disease, and this was confirmed in a 2019 meta-analysis.13 There was a small
reduction in CVD in those with diabetes up until age 85 years. Statins remain useful in secondary
prevention regardless of age.
Pregnancy6
As a general rule the increase in cholesterol level associated with pregnancy subsides after
delivery. Systemically absorbed lipid-lowering agents may be unsafe during pregnancy and
should be avoided.
Complementary therapy
Claims have been made for the cholesterol-lowering properties of policosanol (derived from
sugar cane), fish oils, plant sterols, vitamin E, garlic and lecithin.
A 2018 Cochrane systematic review14 found good evidence that taking fish oil Page 922
supplements does not reduce cardiovascular or all-cause mortality, so they should no
longer be recommended for that purpose. It found lower quality evidence that eating more foods
containing omega-3 fats (fish, nuts, seeds) in the diet may be slightly protective.
The evidence from RCTs to date indicates a possible modest benefit on cholesterol from
policosanol15 and plant sterols16 but there is insufficient evidence to recommend vitamin E,
garlic and lecithin.17
Patient education resources
Hand-out sheets from Murtagh’s Patient Education 8th edition:
Cardiovascular (including coronary) risk factors
Cholesterol: how to lower cholesterol
References
1 Duffy SJ, Meredith IJ. Treating mildly elevated lipids. Current Therapeutics, 1996; 37(4):
49–58.
2 Taylor F et al. Statins for the primary prevention of cardiovascular disease. Cochrane
Database of Syst Rev, 2013; (1): CD004816.
3 Cheung B et al. Meta-analysis of large randomized controlled trials to evaluate the impact
of statins on cardiovascular outcomes. Br J Clin Pharmacol, May 2004; 57(5): 640–51.
4 The Pharmaceutical Benefits Scheme. General statement for lipid-lowering drugs
prescribed as pharmaceutical benefits. Available from:
www.pbs.gov.au/info/healthpro/explanatory-notes/gs-lipid-lowering-drugs, accessed
 March 2018.
5 The Royal Australian College of General Practitioners. Guidelines for Preventive Activities
in General Practice. (9th edn). East Melbourne: RACGP, 2016.
6 Cardiovascular [published 2018]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2018. www.tg.org.au, accessed January 2018.
7 National Vascular Disease Prevention Alliance. Guidelines for the management of
absolute cardiovascular disease risk, 2012. Available from:
https://www.heartfoundation.org.au/Conditions/FP-Absolute-CVD-Risk-Clinical-
Guidelines, accessed April 2021.
8 Baigent C et al. The effects of lowering LDL cholesterol with simvastatin plus ezetimibe
in patients with chronic kidney disease: a random placebo-controlled trial. Lancet 2001;
377(9784): 2182–92.
9 Buckley N (Chair). Australian Medicines Handbook. Adelaide: Australian Medicines
Handbook Pty Ltd, 2016: 302–4.
10 Sabatine MS, Giugliano RP. Evolocumab and clinical outcome in patients with
cardiovascular disease. N Eng J Med, 2017; 376: 1713–22.
11 Watts GF et al. Familial hypercholesterolaemia: a model of care for Australasia.
Atherosclerosis Supplement, October 2011; 12(2): 221–63.
12 Ramos R et al. Statins for primary prevention of cardiovascular events and mortality in old
and very old adults with and without type 2 diabetes: retrospective cohort study. BMJ,
2018; 362: k3359.
13 Cholesterol Treatment Trialists’ Collaboration. Efficacy and safety of statin therapy in
older people: a meta-analysis of individual participant data from 28 randomised controlled
trials. Lancet, 2 February 2019; 393(10170): 407–15.
14 Abdelhamid AS et al. Omega-3 fatty acids for the primary and secondary prevention of
cardiovascular disease. Cochrane Database Syst Rev, 2020; Issue 3. Art. No.: CD003177.
15 Nikitin IP et al. Results of the multicenter controlled study of the hypolipidemic drug
polycosanol in Russia [translated]. Ter Arkh, 2000; 72(12): 7–10.
16 Malhotra A et al. Dietary interventions (plant sterols, stanols, omega-3 fatty acids, soy
protein and dietary fibers) for familial hypercholesterolaemia. Cochrane Database Syst
Rev, 2014; 6: CD001918.
17 Managing dyslipidaemia. NPS News, 2002; 20: 5–6.
Page 923
79 Chronic kidney disease
I have never yet examined the body of a patient dying with dropsy attended by albuminous urine,
in whom some obvious derangement was not discovered in the kidneys.
RICHARD BRIGHT 1827
In the diagnostic model the problem of chronic kidney disease (CKD) as a masquerade has been
highlighted. The reason for this is that the dysfunction associated with progressive CKD can be
difficult to diagnose as there may be no or minimal symptoms. The underlying cause needs to be
identified. In some cases it may present as a subtle terminal illness. It is important that all general
practitioners are aware of the seriousness of the problem and keep it in mind when the patient
presents with apparent minor problems such as fatigue or weakness. Sometimes the kidneys can
develop acute failure over days (acute kidney injury) which may recover or progress to
chronicity.
If CKD is detected early and managed appropriately then the otherwise inevitable deterioration in kidney
function can be reduced by as much as 50% and may even be reversible.1
Key facts and checkpoints
The definition of CKD has broadened over the years, particularly with the
introduction of estimated glomerular filtration rate (eGFR) thresholds, leading to
an increase in the percentage of the population defined as having CKD.
10% of adults attending Australian general practice1 have CKD but most do not
know it.
At least 95 people per million of the world’s population are treated for end-stage
kidney disease (ESKD) each year.
Two-thirds of these are under 60 years of age.
Important causes are glomerulonephritis (25%), diabetes mellitus (35%),
polycystic kidney disease (8%), reflux nephropathy (8%) and hypertension (13%)
(see TABLE 79.1 ).2
 The commonest cause of ESKD in Australia is diabetes. bilateral ureteric obstruction
bladder outflow obstruction: prostatic enlargement
The commonest cause of nephritis leading to kidney failure in Australia is IgA
nephropathy. Drugs, including analgesic nephropathy
In children the incidence of chronic kidney failure is low (1 to 2 per million of the Lupus and other connective tissue disorders
population).2 Vasculitides, e.g. polyarteritis nodosa (PAN)

Warmer climates, poorer living conditions and certain genetic predispositions are Gout
associated with a higher prevalence of kidney disease. Amyloidosis

Kidney failure should be considered in the diagnosis of patients with unexplained Multiple myeloma
anaemia, unexplained poor health and unusually high analgesic intake.2 Hypercalcaemia

CKD is an important risk factor for (and marker of) cardiovascular disease.

Uraemic symptoms are non-specific and usually are not recognised until the
creatinine clearance is less than 20% of normal. Table 79.2 Classification of chronic kidney disease stages1,3
CKD is characterised by the accumulation of uraemic toxins and a deficiency of
kidney hormones that cause dysfunction of organs other than kidneys. Note: A low glomerular filtration rate (GFR) and high urinary albumin–
creatinine ratio (ACR) should be repeated 3 months later, to confirm the
This interaction can cause phosphate retention, secondary hyperparathyroidism definition of ‘chronic’ kidney disease.
and bone disorders such as osteomalacia.
CKD GFR
Description Clinical action plan
Age is an issue—we lose 1% of renal function per year. stage (mL/min)
1 >90 plus Evidence of kidney
CKD is classified into stages (see TABLE 79.2 ). proteinuria damage (e.g. scarring
on ultrasound,
proteinuria/haematuria)
2 60–89 Evidence of kidney Further investigation for
Table 79.1 Significant causes of chronic kidney plus damage those at risk:
failure (approximate order of prevalence) proteinuria Mild kidney failure Assess proteinuria
Urinalysis
Diabetes mellitus BP
Glomerulonephritis Cardiovascular risk
reduction:
IgA nephropathy (commonest)
BP, cholesterol,
Hypertension blood glucose,
Vascular smoking, obesity

atherosclerosis, including kidney artery stenosis 3 30–59 Moderate kidney failure As above, plus
3a 45–59 Avoid nephrotoxic
Polycystic kidneys drugs
3b 30–44
Obstructive nephropathy/reflux Monitor eGFR 3
monthly
 Prescribe Treatment options include renal dialysis, blood filtration and fluid and electrolyte restriction.
antiproteinuric
drugs, ACE DxT malaise (extreme) + a/n/v + confusion (± oliguria) → AKI
inhibitors or ARBs if
appropriate
Address anaemia,
acidosis, Chronic kidney disease
hyperparathyroidism
Ensure drug Chronic kidney disease (CKD) is diagnosed as:1
dosages are
appropriate for level an estimated or measured glomerular filtration rate (GFR)1 <60 mL/min/1.73m2 that is present
of kidney function for ≥3 months with or without evidence of kidney damage
Consider referral to or
nephrologist
evidence of kidney damage that is present for ≥3 months with or without decreased GFR, as
4 15–29 Severe kidney failure As above, plus evidenced by the following (irrespective of the underlying cause):
Referral to
albuminuria
nephrologist
Prepare for dialysis haematuria after exclusion of urological causes
or transplantation (if
appropriate) structural abnormalities (e.g. on kidney imaging tests)
5 <15 End-stage kidney As above, plus pathological abnormalities (e.g. renal biopsy)
failure Institute dialysis or
transplantation (if CKD can present surreptitiously and be a real master of disguise in clinical practice. It Page 925
appropriate) may be discovered on routine health screening, as a chance finding in a hospitalised or
hypertensive patient, or during follow-up of patients with known kidney disease.4 Symptoms
only manifest when stage 4 is reached.

Acute kidney injury Important clinical associations5

Acute kidney injury (AKI, also called acute kidney failure) is defined as a sudden Page 924
The possibility of CKD should be monitored in patients with:
(hours to weeks) decrease in kidney function (azotaemia) with or without oliguria. It results in
dysfunctional fluid and electrolyte balance and nitrogenous waste excretion with a sudden diabetes
increase in serum urea and creatinine levels. It can be a forerunner of CKD.
hypertension
AKI is usually classified into:
established cardiovascular disease
prerenal (e.g. acute circulatory failure → kidney hypoperfusion)
severe gout
postrenal (e.g. obstruction)
a history of urinary tract abnormality (e.g. vesicoureteric reflux, bladder outflow obstruction)
kidney (intrinsic) (e.g. acute glomerulonephritis) or kidney failure

Early diagnosis with hospital admission is important and this is achieved by being aware of the The possibility of CKD should be considered and investigated in patients presenting with:
patient at risk and the early detection of hypovolaemia, hypertension or hypotension, oliguria or
urine abnormalities. unexplained poor health
 hypertension History
anaemia A hallmark of early-stage CKD is a non-specific history and examination, and the diagnosis is
very difficult in the absence of a known past history of kidney disease. Inquire about drugs,
pruritus UTIs, LUT symptoms, systemic disease and family history. The diagnosis can be established
only by kidney function tests. Symptoms from CKD are rare unless the creatinine clearance is
hyperparathyroidism less than 20% of normal and only become common when less than 10% of normal.
pericarditis In CKD, symptomatic uraemia may be precipitated by prerenal factors, such as fluid loss from
urinary tract symptoms or signs: proteinuria, haematuria, oedema, nocturia, loin pain, prostatic vomiting or diarrhoea, infection, antibiotic therapy especially tetracyclines, or increasing
hypertension.
obstruction

neurological disturbances: confusion, coma, peripheral neuropathy, seizures Symptoms and signs

Patients with CKD may present with features of acute kidney failure in the presence of The symptoms and signs of CKD are summarised in FIGURE 79.1 .
complicating factors such as:

drug toxicity

infection

fluid imbalance

Urgent treatment of the following conditions, which can lead to rapid kidney failure, is essential:

progressive nephritis

systemic lupus erythematosus

vasculitides (see CHAPTER 21 ), for example, polyarteritis nodosa, Wegener granulomatosis

Risk factors for chronic kidney disease5

Non-modifiable Modifiable
Age >60 Diabetes
Family history Hypertension

Aboriginal or Torres Strait Smoking

Islander origin >30 years
Obesity—BMI ≥30
History of acute injury

The clinical approach

 restless legs (esp. if eGFR <15)

pruritus

dyspnoea

If someone presenting with these symptoms and has a sallow ‘lemon’ tinge appearance due to a
combination of anaemia and brownish pigmentation, CKD should be highly suspected.

DxT fatigue + a/n/v + sallow skin → CKD

Physical examination6
Page 926
General inspection of the patient with CKD will usually reveal a sallow complexion
with yellow-brown pigmentation in the skin, which is often dry and pruritic. The patient’s mental
state should be noted. The respiratory and pulse rates are usually rapid because of anaemia and
metabolic acidosis. Other findings may include bruising, uraemic fetor, reduced mental status,
pericarditis and peripheral neuropathy. The abdomen should be carefully palpated, especially in
the renal angles. A rectal examination is indicated to detect prostatomegaly or other rectal or
pelvic pathology. Ophthalmoscopic examination may show hypertensive or diabetic retinopathy.
Urinalysis may indicate glucose, blood and protein. This involves a dipstick testing on the first
morning specimen. Proteinuria should be confirmed with an albumin–creatinine ratio (ACR),
whereas 24-hour urine protein estimation is usually reserved for hospital inpatients.

ACR guidelines

Normoalbuminuria

Men: <2.5 mg/mmol

Women: <3.5 mg/mmol
FIGURE 79.1 Clinical features of chronic kidney failure

The common early presenting symptoms are generally non-specific and referable to the GIT, Microalbuminuria
presumably due to the formation of ammonia in the upper GIT. However, anaemia is the main
cause of symptoms. Men: 2.5−25 mg/mmol
Women: 3.5−35 mg/mmol
Symptoms that indicate uraemia include:

malaise Macroalbuminuria (if persistent, indicates moderate to severe CKD)

anorexia, nausea, vomiting Men: >25 mg/mmol

Women: >35 mg/mmol
tiredness/lethargy

nocturia
Investigations
Urine dipstick (poor sensitivity and specificity)1 potassium

Albumin–creatinine ratio (24-hour urine protein occasionally required) phosphate

Microculture of urine creatinine and urea

ESR and FBE (?anaemia) urinary protein

Kidney function tests (most appropriate for the GP): hydrogen ions → acidosis; anion group

plasma urea Monitoring CKD

plasma creatinine The traditional test in identifying and monitoring CKD is the serum creatinine level.7 The normal
range is about 40–120 µmol/L (0.04–0.12 mmol/L) but the laboratory will indicate their
creatinine clearance (more precise) appropriate reference level. However, serum creatinine is an unreliable and insensitive marker of
eGFR (the new standard) CKD, so laboratories report on estimated glomerular filtration rate (eGFR) using the CKP-EPI
(chronic kidney disease epidemiology collaboration) formula, which is required to calculate
Plasma electrolytes: Page 927 GFR.

sodium, potassium, chloride, bicarbonate Although common in older people, an eGFR <60 is associated with increased risks of adverse
clinical outcomes, especially renal and cardiovascular.
calcium and phosphate

Consider:
Guiding rule
magnesium, urate, glucose
eGFR = 140 − age
lipids

prescribed drug level

Drug prescribing in CKD3,8
cardiac studies
Drugs that can damage the kidneys include:
protein electrophoresis (?myeloma)
classic nephrotoxic drugs, e.g. gentamicin, vancomycin
ANA for lupus
NSAIDs, COX-2 inhibitors
ANCA for vasculitis
aminoglycosides
Determination of underlying cause:
cephalosporins (various)
imaging of urinary tract—ultrasound
tetracyclines
immunological tests
lithium
kidney biopsy (nephrologist will assess need)
colchicine
Biochemical changes—elevation of:
 Beware of the ‘triple whammy’ Beta lactams: interstitial nephritis

LMW heparin: bleeding

NSAIDs/COX-2 inhibitors
Aspirin/NSAID: GIT bleeding
ACE inhibitors
Omeprazole and related agents: interstitial nephritis
Diuretics
Dangerous drug accumulation is presented in TABLE 79.3 .

These three agents individually or in combination are implicated in over 50% of cases of
iatrogenic acute kidney injury.9
Table 79.3
Dangerous drug accumulation in kidney impairment7
Diuretics should be used with care.

Drug Problem
Drugs causing hyperkalaemia
Aciclovir Confusion, encephalopathy
NSAIDs/COX-2 Cotrimoxazole Stevens-Johnson syndrome
ACE inhibitors Metronidazole (long Peripheral neuropathy
term)
ARBs Penicillin (high dose Seizures
IV)
Aldactone
Quinolones:
Amiloride
ciprofloxacin Seizures
Trimethoprim norfloxacin

Digoxin Metformin Lactic acidosis

Sulfonylureas Prolonged hypoglycaemia
Increased risk of adverse reaction in CKD Insulin Hypoglycaemia
Allopurinol: Atenolol Bradycardia/heart block
Digoxin Nausea, bradycardia
vasculitis
Sotalol Ventricular tachycardia (Mg required before
liver dysfunction conversion)
Codeine Confusion, acute brain syndrome
Statins:
Methotrexate Liver dysfunction
liver dysfunction Bone marrow depression
myopathy Lithium Tremor—confusion
Thyroid dysfunction
rhabdomyolysis

Gemfibrozil: rhabdomyolysis. Note: Do not use statins and gemfibrozil together in CKD
Management
The following are optimal targets for patients with chronic kidney disease:
The basic object is to slow progression of disease. Managing cardiovascular risk factors becomes
more urgent, both to slow progression and also because the presence of CKD is a sign of
increased CV morbidity and mortality risk. In particular, aggressively managing hypertension
achieves both aims. blood pressure <140/90 mmHg if proteinuria

The underlying disease and any abnormalities causing progressive kidney damage must Page 928 ≤130/80 mmHg if albuminuria, diabetes
be corrected where possible. The management of CKD is based on a team approach
involving specialists and allied health, including a dietitian. Attention to lifestyle, especially
nutrition and fluid control, is fundamental. The patient is usually faced with years of ongoing cholesterol total <4.0 mmol/L
care so that an empathic support team based around the GP is very important to the patient, who
LDL <2.5 mmol/L
will require considerable psychosocial support. The common problem of depression necessitates
surveillance.

Optimum treatment includes: blood glucose pre-prandial 4.4–6.8 mmol/L

regular review
HbA1c ≤7%
good blood pressure control (the most effective way to slow progression)

maintaining effective fluid and electrolyte balance haemoglobin 100–115 g/L

prompt treatment of intercurrent illness

serum potassium ≤6 mmol/L
judicious use of drugs

avoid treatment errors, especially with drugs BMI 20–25 kg/m2

avoid potassium-sparing diuretics
serum albumin >35 g/L
avoid nephrotoxic medications

other drugs that may cause problems include digoxin, tetracyclines, gentamicin, NSAIDs
albuminuria ≥50% reduction of baseline value
and nitrofurantoin

rapid treatment of complications, especially salt and water depletion and acute urinary tract
acidosis HCO3− >22 mmol/L
infection

diet: low protein, sodium and potassium

phosphate PO43− ≤1.75 mmol/L
avoid toxins: nicotine, excessive alcohol or caffeine

treat anaemia with human recombinant erythropoietin and iron (iron infusions) no smoking

attention to an advanced care plan

alcohol ≤2 standard drinks/day
Targets: goals of management1,5
 Oral resonium A
The main goal is to treat blood pressure, achieve resolution of proteinuria and reduce CVD risk.
Recommend an advanced care plan. Then dialysis

Blood pressure control Dialysis

No added salt diet (with care)
Drug control: none of the antihypertensive agents is specifically contraindicated but those
eliminated mainly by the kidney (e.g. ACE inhibitors, atenolol, sotalol) should be given in
lower dosage. ACE inhibitors should not be used in the presence of renal artery stenosis; loop
diuretics (e.g. frusemide) are effective in larger doses.2 The first-line agents are ACEIs or
ARBs, which should not be used together. Evidence is equivocal about whether they should be
ceased in advanced stages of CKD,10 but cease them if the serum K exceeds 6 mmol/L
(despite dose reduction).4 The non-dihydropyridine calcium-channel blockers are next choice.
Beta blockers can be used. Diuretics have a vital role in individuals with diastolic heart failure
(see CHAPTER 76 ).8 Control the blood pressure to the lowest tolerable level, to protect GFR.
Anaemia
Page 929
Exclude chronic infection and iron deficiency.
Dialysis is indicated when all other methods fail. It is time-consuming and costly. About two-
thirds of patients receive haemodialysis and about 22% are on continuous ambulatory peritoneal
dialysis and automated overnight peritoneal dialysis (nocturnal dialysis).
The preferred access is via an AV fistula usually between the radial artery and a cephalic vein.
Never take bloods from, or use a sphygmomanometer on, an arm that has an AV fistula.
Transplantation
Transplantation is the treatment of choice for kidney failure except where contraindicated, such
as with active malignancy or tuberculosis and perhaps the elderly. However, a critical shortage of
donors remains a problem. Rejection and infection are problems, occurring especially in the first
6 months. As a rule, never stop the immunosuppressants. With time there is a high rate of
malignancy especially of skin, lymphoma × 5−10 and solid organs × 2−3 (except breast and
prostate).

Give iron for iron deficiency and erythropoietin for Hb <100 g/L, as guided by a nephrologist. Chronic kidney failure in children
Avoid transfusions where possible. The incidence of CKF in children is about two per million of the total population per year. The
commonest causes include chronic glomerulonephritis, obstructive nephropathy and reflux
Hyperphosphataemia control nephropathy. Identification of structural kidney abnormalities by obstetric ultrasound and early
investigation of urinary tract infections may decrease the incidence of CKF. Dialysis and
Balanced nutrition to reduce dietary phosphate transplantation are normally considered for children over 2 years of age with end-stage CKF. For
Protein restriction children under 2 years there are complex ethical, psychological and technical problems.7
Regardless, the prognosis for such treatment is poor.
Calcium carbonate tablets (to bind phosphate)
Chronic kidney failure in elderly
Hyperkalaemia treatment
An eGFR <60 is common but still predictive of significant increased risk of adverse clinical
(A concern if >6.5 mmol/L.) outcomes. Individualise management according to how evidence-based risks and benefits apply
to that particular person, taking into account both quantity and quality of life and patient
Low potassium diet preference.

Cease ACEI/ARB/spironolactone (if applicable)

When to refer4
Nebulised salbutamol (increases intracellular K+)
(Glomerular) haematuria
IV insulin and dextrose
eGFR <30 (stage 4 or 5 CKD)
IV calcium gluconate
 Rapidly declining kidney function 4 Kumar PJ, Clark M. Clinical Medicine (7th edn). London: Elsevier Saunders, 2009: 625–
42.
Significant proteinuria >1 g/24 hours or ACR >30
5 RACGP. Royal Australian College of General Practitioners Guidelines for Preventive
Glomerular haematuria with macroalbuminuria Activities in General Practice (9th edn). East Melbourne: RACGP, 2016: 96–7.

Kidney impairment + hypertension (poor control)
Diabetes with kidney impairment: eGFR <60 or albuminuria/proteinuria
Experienced GPs may be comfortable managing some of these circumstances if no complex
investigation (such as renal biopsy) is indicated.
Any person with rapidly declining eGFR and/or signs of acute nephritis (oliguria, haematuria,
oedema and acute hypertension) should be regarded as a medical emergency.
Patient education resource
6 Tally N, O’Connor S. Clinical Examinations (5th edn). Sydney: Maclennan & Petty, 2006:
186–7.
7 Robinson MJ, Roberton DM. Practical Paediatrics (5th edn). Melbourne: Churchill
Livingstone, 2003: 610–1.
8 Cunninghan M. Drug therapy in the renally challenged. Monash University Update for
GPs. Seminar proceedings November, 2005: 1–8.
9 Thomas MC. Diuretics, ACE inhibitors and NSAIDs—‘the triple whammy’. Med J Aust,
21 Feb 2000: 172.

10 Ahmed A, Jorna T, Bhandari S. Should we STOP angiotensin converting enzyme

Hand-out sheet from Murtagh’s Patient Education 8th edition: inhibitors/angiotensin receptor blockers in advanced kidney disease? Nephron, 2016; 133:
147–58.
Kidney disease

Resources
Kidney Health Australia: www.kidney.org.au

Renal Drug Reference Guide: www.renaldrugreference.com.au

National Aboriginal Community Controlled Health Organisation: www.naccho.org.au

Australian absolute cardiovascular disease risk calculator: www.cvdcheck.org.au

NICE guidelines, chronic kidney disease: www.nice.org.uk

References
1 Kidney Health Australia. Chronic Kidney Disease: Management in General Practice (3rd
edn). Melbourne: 2015 e–version. Available from: www.kidney.org.au, accessed January
2018.

2 Fox CH et al. A quick guide to evidence-based chronic kidney disease care for Page 930
the primary care physician. Postgrad Med, 2008; 120(2): E01–6.

3 Johnson DW, Usherwood T. Chronic kidney disease. Aust Fam Physician, 2005; 34(11):
915–21.
 Page 931 weight.

That being said, the usual medical goal for people with obesity is a sustained weight reduction
through improvements in lifestyle, thereby improving quality of life and reducing morbidity and
mortality risks.
80 Obesity
Table 80.1 Health conditions caused by obesity

Cardiovascular
increased mortality (stroke, ischaemic heart disease, etc.)
Persons who are naturally very fat are apt to die earlier than those who are slender.
hypertension*
varicose veins
HIPPOCRATES
Metabolic
A century ago, infectious diseases were the health scourge of humanity (particularly in dyslipidaemia*
childhood) so efforts in public health and medicine focussed on measures such as hygiene, type 2 diabetes*
vaccinations and antibiotics. Every four years since then, on average, the life expectancy in many
hyperuricaemia/gout
developed nations increased by one full year. By the 1980s mortality due to chronic diseases
began to outstrip that of infections. The 21st century has seen many other nations follow suit— infertility
notably China and India, which together comprise more than a third of the world’s population. PCOS
Mechanical
Obesity is prime among the emerging chronic conditions, whether viewed as a disease in its own
osteoarthritis
right, or as a risk factor for other diseases: particularly cardiovascular disease, diabetes and
cancer. Almost a third of Australian adults (5.8 million people) are obese, and another 6.7 obstructive sleep apnoea*
million people are classified as being overweight.1 restrictive pulmonary disease
spinal dysfunction
Obesity is a complex, chronic, recurring health condition. In other words, a condition ideally back pain
suited to management in general practice. Australian patients, consistent with international
surveys, indicate that they would appreciate more involvement from their GP in the management urinary incontinence
of obesity.2 Maintaining substantial weight loss is important—it may even be life-saving—but it Other
is not easy. hiatus hernia/GORD
gall bladder disease*
The general practitioner’s skills may be tested over a long period of time: encouraging initial
fatty liver
weight loss, sustaining that weight loss and helping to overcome setbacks. Helpful ‘tools’
include brief motivational intervention, advice, encouragement, recommending support groups, cancer (various)
coordinating allied health (dietitian, exercise physiologist, psychologist) and occasionally using kidney disease (check for microalbuminuria)
medication or a surgical referral. All the while, attention must be paid to managing related risk excessive daytime sleepiness
factors and comorbidities. erectile dysfunction/subfertility
The causative interaction between obesity and medical conditions can be a two-way street; for psychological problems/depression/anxiety
example, mechanical problems such as osteoarthritis and sleep apnoea are both caused by, and
worsen, obesity. A third factor (particularly the ‘lifestyle choices’—nutrition and physical
*Indicates relative risk > 3
activity) can independently lead to both obesity and to a medical condition, notably
cardiovascular disease. The causative pathway has implications for treatment, because reversing Obesity is responsible for 80% of type 2 diabetes, 35% of ischaemic heart disease and 55% of
obesity does not always improve health, and health may be improved without losing a gram in hypertension in European adults.
Measuring obesity 35–40 Class II: moderately Consider medical therapy if >35
obese
Page 932 ≥40 Class III: severely Combined program plus medical
obese therapy
Consider gastric surgery

Screen using Body Mass Index (BMI) and waist circumference every two years in adults.3

‘Healthy’ adult BMI is 18.5–25 kg/m2 (see TABLE 80.2 )

BMI is a handy but rough guide to cardiovascular risk and ideal weight targets. Bear in mind
that the ‘J-shaped’ risk curve (see FIG. 80.1 ) varies according to ethnicity and age, the
presence of established disease and muscle–fat ratio.

Many professional sportspeople have a BMI above 25, but this does not make them
‘unhealthy’. In people aged over 70 years, the curve is shifted to the right, with the lowest
point on the mortality curve lying within the ‘overweight’ range.4

A BMI of >40 confers a threefold mortality risk.

Children’s BMI must be interpreted using age-specific ranges.

For waist circumference, place a stretch-resistant tape on bare skin at the level mid-way
between the lateral rib margin and iliac crest, and measure at the end of normal respiration.

Thresholds for increased mortality risk (and high mortality risk respectively) in females are
>80 cm (>88 cm), and in males >94 cm (>102 cm).

Table 80.2
Classification of adult obesity (based on WHO guidelines)5

BMI Grading Suggested therapy

<18.5 Underweight Diet and counselling FIGURE 80.1 Mortality vs body mass index (BMI) reference scale. Note the
18.5–25 Healthy weight ‘J’-shaped curve.
25–30 Overweight More exercise
Diet: less alcohol Other anthropomorphic measurements
30–35 Class I: mildly obese Combined program:
Waist–hip circumference ratio (W/H ratio): a slightly better predictor of cardiovascular risk
behaviour modification than BMI. Obesity with a high waist–hip ratio (>1.0 in men and >0.9 in women) confers a
diet significantly greater risk of diabetes, stroke, coronary artery disease and early death than a
similarly obese BMI with a lower waist–hip ratio. Thus, abdominal fat (‘apple’ body shape,
exercise
 central adiposity) is a greater health hazard than fat in the thighs and buttocks (‘pear’ shape)
(see FIG. 80.2 )
Single skinfold thickness (>25 mm suggests increased body fat)
Four skinfold thicknesses (sum of suprailiac, subscapular, triceps and biceps skinfolds)—
estimates percentage body fat, but is impractical for most GPs
Note that most of the excess mortality is due to the presence of obesity-related health Page 933
conditions, rather than to the obesity itself. Obesity on its own, in the absence of other
conditions and risk factors, increases mortality only by around 20%.6
FIGURE 80.2 Comparison of two types of obesity according to distribution of
body fat
Causes of obesity
Primary causes of obesity
The NHMRC obesity guidelines point out that:
Diet and physical activity are central to the energy balance equation, but are directly and
indirectly influenced by a wide range of social, environmental, behavioural, genetic and
physiological factors.7
A complex array of hormones, including ghrelin, leptins, insulin and thyroid hormones, are
responsible for moderating appetite, energy intake and energy expenditure over time; they
‘defend’ against straying too far above or below an ideal body weight.
However, when energy intake is consistently larger than energy expenditure over a long period,
the body ‘resets’ to maintain a higher body weight. This tendency to reset is influenced by the
individual’s genetics, epigenetics (particularly in utero) and early childhood experience. The last
two of these are potentially modifiable via antenatal care and support in early childhood,
including breastfeeding support.
Many of the sociocultural, political, legal and economic frameworks of developed nations help
contribute to an ‘obesogenic’ environment. Thousands of examples abound; for example, a USA
study indicated that a one standard deviation increase in the density of fast-food outlets was
associated with a 7% increase in overweight/obesity.8
Australian obesity expert Professor Gary Egger notes that:
Obesity is seen more as ‘a canary in a mineshaft’ signalling problems in the broader
environment, suggesting that population obesity management should be focussed more
upstream if chronic diseases are to be better managed.9
General practitioners will vary in their enthusiasm for becoming involved in the ‘big picture’
local environment; advocating for local improvements in food marketing and availability, sport
and exercise programs, and the urban built environment.
Secondary causes of obesity
A large number of medical conditions and their treatments can cause obesity. See TABLE 67.1.
Modifiable. Particularly consider iatrogenic causes such as medications. The dose of a steroid,
antipsychotic or hypoglycaemic medication may be reduced, ceased or substituted.
Non-modifiable (e.g. congenital). Concentrate on managing obesity with the end goal of
improving health and function.
Requires diagnosis. Weight gain, particularly of recent onset, may warrant searching for a
secondary cause via history, examination and investigation. Hypothyroidism causes classic
obesity, while cardiac failure and nephrotic syndrome cause fluid retention that may be
mistaken for adiposity.
See CHAPTER 67 .
Managing obesity
Raising the issue during a consultation
GPs should find appropriate opportunities to discuss weight management as a preventive health
measure when:
the patient raises the issue
the presenting issue is loosely related (e.g. discussing abnormal liver function or writing
 repeats for cardiovascular medications)
performing a dedicated health check
an opportunistic chance arises
Asking about weight should be done sensitively, using non-judgmental language and listening
carefully to the responses. Be aware that for many, obesity is a sensitive issue that may have an
emotional (sometimes traumatic) ‘back story’ entirely unknown to the GP.
Weight stigma is common in society (the media is an exemplar) and unfortunately this also
extends into the world of health services and medical professionals. Weight bias may be
subconscious: attributing individual responsibility for obesity and subsequent illness in a
pejorative way and to an unreasonable extent. It has been shown that people who perceive having
experienced weight stigma by a health provider are less likely to partake in preventive activities
such as cervical and breast screening, and more likely to have delayed cancer diagnoses.
Sensitive questioning may also uncover eating disorders such as bulimia (can cause either
cachexia or obesity) and binge eating. Unless the GP has a special interest in managing eating
disorders, strongly encourage a referral to a specialised unit.
Diet
A healthy diet is key, and should be a primary focus of any obesity management plan. The
typical Western dietary intake has too few unprocessed whole-foods (particularly vegetables and
grains/legumes) and too much sugar, saturated fats, salt and (often) alcohol. CHAPTER 5
outlines the NHMRC dietary guidelines for children and adults and describes the general
principles of optimal nutrition and a nutritional assessment.
Many patients will try a specific, named diet. If so, the two crucial aspects are nutritional
soundness and long-term sustainability. A multitude of fad diets fail in one or both. Rapid weight
loss of 5 kg during the initial enthusiastic phase is readily achievable with all manner of diets,
but has limited value if the weight soon returns to baseline.
Diets with good evidence for both nutritional value and sustainability include the Mediterranean
diet and the DASH diet (designed for hypertension). Other diets can be successful for weight loss
depending on individual capacity to sustain them; these include intermittent fasting diets, some
low-carb diets (but be alert for fads) and commercially prepared diet meals, with or without
group support programs.
The ‘5 As’ model may also be useful (see TABLE 80.3).

Encouraging behaviour change

Table 80.3
The 5 As model for managing obesity11,12
Successful weight loss requires some change in behaviour. Even with a ‘medicalised’
intervention such as bariatric surgery or weight medication, the patient’s behaviour around diet
and physical activity remain the key to a successful outcome.
Ask Sensitively enquire about the individual’s ideas, concerns and
The general practice consultation is an ideal setting to use motivational interviewing Page 934 expectations around weight loss
techniques to encourage behaviour change. Sustainable change is far more likely when How is obesity affecting this person? What do they think might
the motivation to change is shifted from external (‘Dr X told me to lose weight for my blood realistically work?
pressure’) to internal (‘After talking to Dr Y, I realised those truck-stop greasy foods are no good
for me’). Assess Record BMI, waist circumference, BP, glucose
Consider important comorbidities
Seemingly inflexible eating and exercise behaviours are learned and therefore can ideally be Review lipid profile, liver function, ask about sleep apnoea and
modified.10 Counselling techniques include: stimulus control (What food is available at home depression
and work? What are the eating triggers?); working on negative internal thoughts and self- Advise Tailor advice according to the individual’s knowledge gaps and
sabotage; identifying barriers to change; then problem-solving solutions.11 Referral to a motivations
psychologist is ideal. Delivering a routine ‘spiel’ is less effective than nudging the conversation
towards a realistic, SMART goal
Behavioural models: ‘stages of change’ Assist Help set up a lifestyle-based weight-loss program
What support does the person need?
A GP consultation should run entirely differently for someone in the precontemplation stage (e.g.
Numerous dietary and exercise options exist—assist with the individual’s
presents with a medical condition related to obesity) compared to the preparation stage (e.g.
selection
presents to develop a weight-loss plan). The maintenance stage for someone who has
Very low energy diets and pharmacological options require more regular
successfully lost weight is crucial for maintaining long-term health benefits, so a good doctor–
review
patient relationship is pivotal. Sustainably maintaining weight loss has been likened to holding a
rubber band in outstretched hands and not letting go—it takes constant effort and attention.11 Arrange Review and monitor over time
 Support the person’s journey
Involve allied healthcare providers
Consider referral to specialist team, including bariatric surgery
Loosely adapted from Grima & Dixon12 and Sturgiss11.
It is important for GPs to develop a relationship with one or more trusted Accredited Practising
Dietitians (APDs) and refer patients to them wherever appropriate. The Dietitians Australia
website maintains a contact list of APDs (see: https://dietitiansaustralia.org.au/).
the risk of a host of cardiovascular, respiratory, mental health and other disorders. Those benefits
sometimes appear lost among the constant supply of information and competitive marketing
around drug interventions. Projects such as the Handbook of Non-Drug Interventions (HANDI
Guidelines)14 seek to address this imbalance, and currently list more than 20 evidence-based
indications for exercise.
However, exercise alone is unlikely to be effective for weight loss until around 3.0–3.5 hours
(around 90 000 steps) is expended per week, which is more than most people can manage, in
practice.10 The flip side of this unfortunate observation is that GPs can reassure patients that their
health will improve with increased physical activity long before they ‘lose a kilogram’ in weight.

During review consultations (which improve the success of weight loss), be wary of ‘cheering
the scales’ because an individual has considerably more control over what foods they eat than
they do over the number that appears at the doctor’s weigh-in, which may go down one week and
up the next. Instead, a nutrition (and/or exercise) diary can be used as a source of
encouragement. A diary may also reveal unhelpful patterns that can be a symptom of bulimia.11
Where the aim is weight loss, increased exercise should be accompanied by decreased calorie
intake. ‘Prescribe’ exercise for a minimum of 150 minutes (2.5 hours) per week, choosing an
activity the individual will find sustainable. This equates to around 70 000 steps/week, which
will burn off around 2500 kcal in an 80 kg person. Evidence suggests that exercise for weight
loss maintenance in a post-obese individual is 60–80 mins/day of moderate activity (>100 000
steps/week) combined with a hypocaloric diet.10

Physical activity that can be sustained is likely to be:11

Calorie count
something the person enjoys
1 kilocalorie (often called 1 Calorie with a capital C) = 4.2 kilojoules (kJ)
Weight maintenance diet (varies with wt, age, ≈ 2000 kcals/day (8700 affordable for them
gender) kJ)
Low calorie diet <1200 kcals/day (<5000 sustainable within their weekly schedule
kJ)
Very low calorie diet (VLCD) <800 kcals/day (<3400 kJ) based around regular routines, e.g. travelling to work

(if preferred) an activity with a friend or group. GPs should become familiar with the free
Page 935 group exercise activities in their local area (e.g. Parkrun, Active in Parks, Heart Foundation
The DiRECT trial Walking, programs sponsored by state and local governments)

The extent to which dietary support in general practice can be successful is exemplified by the
DiRECT trial (2017–ongoing) in the UK for people with type 2 diabetes and obesity attending
their usual GP.13 The intervention group underwent intensive dietary modification (total calorie
replacement for 3 months) followed by structured support for weight-loss maintenance. The
control group received standard GP care. At 12 months in the intervention group, 24% had lost
≥15 kg (vs 0% control), mean weight loss was 10.0 kg (vs 1.0 kg control) and 46% had diabetes
remission off all hypoglycaemic medication (vs 4% control). Most of these gains were
maintained at 2-year follow-up, some 21-months after ceasing the total calorie replacement, but
still receiving structured general practice support. It can be done!

Exercise
The health benefits of regular exercise (compared to a sedentary lifestyle) are more profound
than the majority of other interventions that GPs regularly prescribe to prevent or manage
chronic disease. Increased physical activity can alleviate a multitude of symptoms and reduces FIGURE 80.3 An energy ‘volume’ approach to energy balance
 Source: Egger, G. Helping patients lose weight: what works? Aust Fam Physician, 2008; 37: 20–3.
Medication
Despite the enormous commercial incentives to develop a safe, well-tolerated medication that
results in clinically significant weight loss and improved morbidity and mortality, no such
medication exists. Hence, the repeated mantra that GPs should encourage lifestyle changes first
and foremost; improvements in diet and physical activity fulfil every one of those criteria.
GPs should resist the pressure to recommend medications, supplements, over-the-counter
products or therapeutic devices that are purported to aid weight loss but are not supported by
evidence. This category applies to the vast majority of products on the market.
A small number of medications have some limited evidence for weight loss.
Orlistat
NHMRC guidelines state that orlistat is currently the only medication registered for use in
treating obesity that has been evaluated for long-term safety.7 It reduces intestinal fat absorption
by inhibiting lipases. Unpleasant gastrointestinal side effects are common, particularly after
eating high-fat meals (the avoidance of which is probably partly responsible for its efficacy).
orlistat 120 mg 3 times daily with meals containing fat
Continue beyond 12 weeks only if ≥5 kg weight loss; may be continued indefinitely.
Phentermine7,11
Page 936
Phentermine is now only available in Australia and the USA; other countries have
ceased dispensing it. It is only registered for up to 3 months’ use. Side effects include
hypertension, tachycardia and insomnia. Its long-term safety profile has not been tested.
Medications primarily for other indications
Some medications used for diabetes, depression or epilepsy have been found to also result in
modest weight loss. These include metformin, fluoxetine and topiramate.
Of the newer classes of hypoglycaemic medication, the SGLT2 inhibitors (gliflozins) result in a
mean weight loss of 2.5 kg per year, and the injectable GLP-1 agonists by around the same
amount, but potentially more (4–6 kg per year) for higher-dose liraglutide in people trying to lose
weight.15
These medications are not subsidised under the PBS for the purpose of weight loss. However,
where indicated for diabetes, they have the added benefit of modest weight loss plus reductions
in cardiovascular and renal risks.
Bariatric surgery
Bariatric surgery aims to reduce intake by restricting gastric capacity and/or by reducing
exposure to the small bowel absorptive area. Three operations are available:
adjustable gastric band
sleeve gastrectomy
roux-en-Y gastric bypass (5% risk of a complication requiring hospitalisation, 1 in 500
mortality rate)
Note: Monitor for malabsorption of iron and B12.16
Surgery delivers substantial weight loss: initial 20–30% in those with BMI >35 kg/m2, and 20%
longer term.7,16 Researched health outcomes:
Improved physical quality of life (e.g. mobility)
Improved metabolic risk factors, cardiovascular events and deaths
No improvement in psychological well-being, perhaps reflecting the complex psychological
antecedents of obesity16
Bariatric surgery involves a significant up-front cost (whether borne by the patient or a third
party) and post-surgical follow-up. However, it compares favourably to the annual costs of many
medications for weight loss or for diabetes (particularly insulin and the newer hypoglycaemics).
Consider referral for adults with:
BMI >40 kg/m2
BMI >35 kg/m2 plus comorbidities that may improve with weight loss7
References
1 Australian Bureau of Statistics. Overweight and obesity: 2017–18 financial year. Released
12 December 2018. Available from: https://www.abs.gov.au/statistics/health/health-
conditions-and-risks/overweight-and-obesity/latest-release, accessed May 2021.
2 Sturgiss EA et al. Obesity management in Australian primary care: where has the general
practitioner gone? Aust J Prim Health, 2016; 22(6): 473–76.
3 Royal Australian College of General Practitioners (RACGP). Prevention of chronic
disease: Overweight. In: Guidelines for Preventive Activities in General Practice (9th
edn). Available from: https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-
racgp-guidelines/view-all-racgp-guidelines/guidelines-for-preventive-activities-in-general-
pr/prevention-of-chronic-disease/overweight, accessed May 2021.
 Dixon J, Egger G. A narrow view of optimal weight for health generates the obesity Page 937
4 paradox. American J Clin Nutrition, 2014; 99(5): 969–70.

5 WHO Technical Report Series Number 894. Geneva: WHO, 2000.

6 Sturgiss EA, Agostino J. Preventive health care should focus on modifiable cardiovascular
risk factors, not obesity alone. J American College Cardiology, 2018; 71(7): 815–6. 81 Osteoporosis
7 National Health and Medical Research Council (NHMRC). Clinical practice guidelines for
the management of overweight and obesity in adults, adolescents and children in Australia.
October 2013. Available from: https://www.nhmrc.gov.au/about-us/publications/clinical-
practice-guidelines-management-overweight-and-obesity, accessed May 2021.
Like bones which, broke in sunder, and well set, knit the more strongly . . . but old bones are
8 Li F et al. Built environment, adiposity, and physical activity in adults aged 50–75. Am J brittle.
Prev Med, 2008; 35(1): 38–46.
JOHN WEBSTER (1580–1625)
9 Egger G, Dixon J. Beyond obesity and lifestyle: a review of 21st century chronic disease
determinants. BioMed Res Int, 2014; 2014: 731685. Osteoporosis, which literally means porous bone, is reduced bone mass per unit volume (see
FIG. 81.1 ), thus predisposing the person with it to an increased risk of fracture. It also refers to
10 Egger G. Helping patients lose weight: what works? Australian Family Physician, 2008; the increased bone fragility that accompanies ageing and many illnesses. Following menopause,
37: 20–3. women begin to lose calcium from their bone at a much faster rate than men, presumably in
response to low levels of oestrogen. By the age of 65 the rate of fractures in women has
11 Sturgiss E. A GP approach to managing obesity. Diabetes Management Journal, February
increased to 3–5 times that of men.1 However, a third of all hip fractures in the community occur
2019: 10–13.
in men.
12 Grima M, Dixon J. Obesity: recommendations for management in general practice and
beyond. Aust Fam Prac, August 2013; 42(8): 532–41.

13 Lean, MEJ et al. Durability of a primary care-led weight-management intervention for

remission of type 2 diabetes: 2-year results of the DiRECT open-label, cluster-randomised
trial. Lancet Diabetes and Endocrinology, 2019; 7(5): 344–55.

14 Royal Australian College of General Practitioners (RACGP). Handbook of Non-Drug

Interventions (HANDI). Available from: https://www.racgp.org.au/clinical-
resources/clinical-guidelines/handi, accessed May 2021.

15 Lin CH et al. An evaluation of liraglutide including its efficacy and safety for the treatment
of obesity. Expert Opin Pharmacother, 2020; 21(3): 275–85.

16 Wentworth J. Bariatric surgery: when to refer. Diabetes Management Journal, May 2018:
10–12.

FIGURE 81.1 Osteoporosis is reduced bone mass per unit volume

In recent decades osteoporosis was largely prevented by correction of oestrogen deficiency

through the use of hormone replacement therapy but the balance has changed since the
controversial association of HRT with breast cancer was reported.
 factors are presented in TABLE 81.1 .

Key facts and checkpoints

Table 81.1
Osteoporosis: risk factors and/or causes3
Osteoporosis is silent, common, measurable, treatable and potentially lethal.2

Osteoporosis is commonest in postmenopausal women. Constitutional and non-modifiable

Female sex
An estimated 2 in 5 women and 1 in 4 men will develop fragility fractures in their
lifetime and 30% of all women reaching 90 years of age will suffer a hip Ageing: M >60, F >50 (including sarcopenia)
fracture.1,3 Thin build; low BMI <20; short stature
Race: Asian, Caucasian
Osteoporosis leads to reduced bone strength and susceptibility to fracture, even Family history (e.g. maternal hip fracture <75 yrs)
with minor trauma.
Premenopausal oestrogen deficiency (e.g. amenorrhoea)
Osteoporosis usually causes pain when complicated by fracture. Late menarche
Early menopause <45 years (natural or surgical)
First presentation is usually a fracture (Colles, femoral neck and vertebra) or
height shrinkage. Modifiable lifestyle factors
Cigarette smoking
Vertebral collapse is the hallmark of osteoporosis.
High alcohol intake >2 standard drinks per day
For osteoporosis in a vertebra including a pathological fracture, multiple myeloma Low calcium intake
needs exclusion. Lack of vitamin D
The first step in prevention is regular exercise, an adequate dietary intake of Physical inactivity
calcium (1500 mg per day) and maintenance of adequate serum vitamin D levels. Medical causes
Eating disorders (e.g. anorexia nervosa)
Malabsorption syndrome (e.g. coeliac disease)
Classification4 Endocrine disorders:
Cushing syndrome
Primary diabetes mellitus
hyperparathyroidism
Type 1: Postmenopausal (typically vertebral or distal forearm fractures between the ages of 51 thyrotoxicosis
and 75). Due to increased osteoclast activity. It is six times more common in women than men.
amenorrhoea in elite athletes
Type 2: Involutional or senile osteoporosis (typically fracture of proximal femur and other hypogonadism/sex hormone deficiency
bones). It affects those over 60 years and is twice as common in women as in men. acromegaly
Connective tissue disorders (e.g. RA)
Idiopathic osteoporosis: Occurs in children and young adults of both sexes with normal gonadal
function. Chronic organ failure (kidney, liver, heart, lungs)
Drugs causing bone loss:
Secondary corticosteroids >3 months, ≥7.5 mg/day
anti-epileptic drugs, especially hepatic enzyme inducers
Secondary to endocrine disorders, malabsorption and malignancies. Various causes and risk proton-pump inhibitors
 thiazolidinediones for diabetes T score Interpretation
long-term heparin ≥−1.0 Normal
excessive thyroid hormone replacement
−1 to −2.5 Osteopenia
prostate or breast cancer hormone therapy
≤−2.5 Osteoporosis
Prolonged immobilisation
<−2.5 with fracture Severe osteoporosis

Investigations The BMD ‘Z score’ is the number of SDs away from the age- and sex-matched mean BMD. The
Z score is used to express bone density in people <50 years, premenopausal women, younger
Plain radiography is of limited value except in detecting fractures. Osteoporosis is not men and children. If low (<−2) it indicates prompt investigation for underlying causes of a bone
detectable until 40–50% of bone is lost. deficit.

25-hydroxy vitamin D: normal range 75–250 nmol/L. BMD is subsidised under the MBS6 for:

Plasma calcium, phosphate and alkaline phosphatase, parathyroid hormone (usually Page 938 people over the age of 70 years (2 or 5 yearly screening, depending on first T score)
normal).
diagnosis of osteoporosis following a low-impact fracture
Thyroid stimulating hormone.
screening for people with specific medical conditions or treatments likely to cause Page 939
Parathyroid hormone. osteoporosis (annual)

Consider tests for multiple myeloma in an osteoporotic area. subsequent monitoring of low BMI (minimum interval of either 1 or 2 years)

Densitometry can predict an increased risk of osteoporosis and fracture, the best current The decision whether to measure BMD in non-subsidised situations, and whether to treat a low
modality being dual energy X-ray absorptiometry (DEXA scan) in a facility with high- BMD, may also be guided by an assessment of absolute fracture risk. The FRAX tool is
standard quality control.3 The spine and femoral neck are targeted: the femoral neck is the commonly used, although somewhat controversially was developed by manufacturers of
most useful index. osteoporosis medication.7

DEXA, T scores and Z scores5 Treatment

DEXA is the current gold standard for the diagnosis of osteoporosis. It assesses both whole-body
and regional bone mass (lumbar spine and proximal femur). Bone mass is measured as bone
mineral density (BMD) in g/cm2 and the lower the BMD, the higher the risk of fracture. Each
bone and each type of DEXA measuring machine has its own normal range of values.
The BMD ‘T score’ is the number of standard deviations (SD) away from the mean BMD of a
30-year-old adult (see TABLE 81.2 ). Osteopenia (low bone density) is 1–2.5 SDs below the
young adult standard mean. Osteoporosis is >2.5 SD below this mean. This is a strong indicator
of bone fragility. Consider treatment if T score is <−2.5.
The management of osteoporosis starts with restoring mobility and instituting measures to
prevent falls. Underlying diseases that may be responsible for increased bone fragility should be
identified and treated where possible. Carefully consider deprescribing medications adding to the
risk of osteoporosis and falls.
The goal of drug treatment is to prevent osteoporosis or reduce further loss. Eliminate risk
factors where possible and focus on optimal lifestyle measures as a baseline for management. No
treatment has been shown to replace lost bone effectively. Anabolic agents such as nandrolone
decanoate may reduce further loss but the side effects are problematic. The list of
recommendations from the American College of Physicians is noteworthy.

Table 81.2 Interpretation of T scores (WHO Recommendations of American College of Physicians5

criteria)
Treat women who have known osteoporosis with alendronate, risedronate, zoledronic acid or
 denosumab to reduce the risk for hip and vertebral fractures.

Treatment should last 5 years (oral) or 3 years (annual IV), then usually cease unless recent
fracture.

Menopausal hormone therapy should not be prescribed to treat osteoporosis in women.

BMD monitoring during the 5-year treatment period is not advised as evidence suggests that
women see fracture reduction benefits regardless of BMD changes.

Offer bisphosphonate therapy to men with clinically recognised osteoporosis.

For osteopenic women ≥65 at high fracture risk, decisions to treat should take into account
patient preference, fracture-risk profile, benefits, harms and price of medications.

Denosumab can cause hypocalcaemia, which could lead to heart failure.

Medications of value in decreasing further loss3

The following medications may be valuable in preventing further bone loss, possibly reversing
the osteoporosis process and preventing further fractures.
FIGURE 81.2 Illustration of T scores and Z scores
HRT (long-term use is not recommended but weigh potential benefits versus harms in
females)8 The choice depends on the clinical status, such as age and the extent of disease, the individual’s
tolerance of drugs and further clinical trials of these drugs.
or
Recommendations for prevention3,7,8,9
bisphosphonates (decrease bone absorption)3—can be used alone or combined with other
agents (take care with potential adverse effects of oesophagitis and osteonecrosis of jaw): Lifestyle factors: stop smoking, limit caffeine and alcohol (2 SDs/day)

alendronate 70 mg (o) once weekly on an empty stomach (take care with potential side Maintain adequate nutrition: aim for ideal body weight with recommended waist
effect of oesophagitis) measurements (preferable) or BMI 18–25

risedronate 150 mg (o) once monthly or 35 mg (o) once weekly or in combination Page 940 Adequate dietary intake of calcium:
therapy with calcium carbonate ± vitamin D
at least 1000 mg/day in women <50 years and men <70 years; 1300 mg in women >50
zoledronic acid, single annual IV injection years and men >70 years, and anyone on osteoporosis therapy

raloxifene (a selective oestrogen-receptor modulator) (SERM) 60 mg (o) daily
teriparatide (second-line agent: a synthetic form of human parathyroid hormone) increases
bone formation—give 20 mcg SC once daily
denosumab (a monoclonal antibody) 60 mg SC, once every 6 months, once calcium intake and
vitamin D levels are optimal—a potential risk factor for osteonecrosis of the jaw, especially in
patients with bone cancer
dairy food is the main source of dietary calcium and people should meet their requirements
with a good diet; supplementation in non-institutionalised people is not required.
oral calcium supplements may be necessary where a person’s diet does not meet their daily
calcium requirements, particularly in postmenopausal women
Calcium citrate is better absorbed than carbonate3—recommend:
calcium citrate 2.38 g (= 500 mg elemental calcium) daily
or
calcium carbonate 1.5 g (= 600 mg elemental calcium) daily with food
 Calcium-rich foods include low-fat calcium-enriched milk (500 mL contains The main problem in children is secondary osteoporosis, which is usually related to
1000 mg, around double normal milk), other low-fat dairy products (e.g. yoghurt or cheese), chronic inflammatory disorders which require treatment with corticosteroids and/or cause
fish (including tinned fish such as salmon with the bone), citrus fruits, sesame and sunflower reduced mobility. Other medical causes are malignancy, malabsorption syndromes, poor
seeds, almonds, brazil nuts and hazel nuts nutrition, anorexia nervosa and hypogonadism. Osteogenesis imperfecta is a rare primary cause.

Vitamin D deficiency and sunlight:9,10 there is evidence we need significant exposure to Use DEXA to assess and monitor BMD and Z scores. Refer for specialist treatment, which may
sunlight of the face, bare arms and hands to produce natural vitamin D (e.g. for those at risk— be based on bisphosphonates.
in summer 6–7 minutes mid-morning or mid-afternoon; in winter 7–40 minutes at noon with
as much bare skin as possible). Refer to regional recommendations.11 Measure serum 25- Osteoporosis in men
hydroxy vitamin D and ideally maintain it at >50 nmol/L. Mild deficiency is 30–49 nmol/L,
moderate 12.5–29, severe <12.5. If supplementation is required use cholecalciferol 25–50 mcg
(1000–2000 IU) (o) daily.3 Refer to CHAPTER 102 .

Exercise: moderate exercise against gravity—walking (brisk walking for 30 minutes 4 times a When to refer
week) or jogging may make a small contribution to retarding bone loss, but also help reduce
falls. Highly osteogenic exercise includes basketball, tennis, dancing and gymnastics.
Children and young adults with osteoporosis
Attention to falls prevention, including avoiding falls (refer to CHAPTER 125 ).12
Postmenopausal women and older men if they have an individual need
‘Hip protectors’ for osteoporotic patients at increased falls risk have some weak evidence, but
Osteoporosis is secondary to an underlying illness that complicates normal management
adherence can be poor.
Advice is required about managing pathological osteoporotic fractures or loss of height
Natural remedies
Patient education resource
An Australian review investigating the effect of natural remedies on BMD commented that there
is good evidence that exercise increases BMD in postmenopausal women with osteoporosis, little Hand-out sheet from Murtagh’s Patient Education 8th edition:
good-quality empirical evidence to support the use of natural progesterone cream and insufficient
evidence to support the use of boron, cod liver oil or chelated calcium supplements (as opposed Osteoporosis
to calcium carbonate).13

There is no evidence that complex mineral preparations have added benefit and often they Resource
contain less elemental calcium than simple preparations.3
NICE Fragility fracture risk (2012). Available from: https://www.nice.org.uk/guidance/CG146,
accessed April 2021.
Monitoring osteoporosis treatment 3

Recommendations are to measure BMD at the lumbar spine and hip: References
2 years after therapy begins 1 Australian Institute of Health and Welfare. Estimating the prevalence of osteoporosis. Cat.
no. PHE 178. Canberra: AIHW.
1–2 years after therapy changes significantly or where high risk of bone loss (long-term
glucocorticoids or post-transplant) 2 Phillips P. Osteoporosis. Check Program 366. Melbourne: RACGP, 2002: 5–31.

3 Osteoporosis [published 2016]. In: Therapeutic Guidelines [digital]. Melbourne:

Osteoporosis in children Therapeutic Guidelines Limited; 2016. www.tg.org.au, accessed September 2017.
Page 941
 Porter RS, Kaplan JL. The Merck Manual (19th edn). Whitehorse Station: Merck Research Page 942
4 Laboratories, 2011: 356.

5 Gupta A, March L. Treating osteoporosis. Aust Prescr, 2016; 39: 40–6.

6 Department of Health. Bone densitometry. Available from:

http://www.health.gov.au/internet/main/publishing.nsf/content/diagnosticimaging-bd.htm, 82 Chronic pain
accessed March 2021.

7 Cassels A. WHO exposes deceptive promotion of industry-supported FRAX osteoporosis

screening tool. Health News Review, 2016. Available from
https://www.healthnewsreview.org/2016/12/frax-osteoporosis-screening-tool/.
The natural healing force within each of us is the greatest force in getting well.
8 Ensrud KE, Grandall CJ. Osteoporosis. Ann Intern Med, 1 Aug 2017; 167(3): 17–32.
HIPPOCRATES, 400 BCE
9 Newson CA et al. Vitamin D and health in adults in Australia and New Zealand: a position
statement. Med J Aust, 2012; 196(11): 656–7. In modern medicine the successful management of chronic pain poses a great challenge. Not
only does the doctor need to address the patient’s suffering of pain, but also their interpretation
10 Diamond TH et al. Working Group of the Australian and New Zealand Bone and Mineral of the pain’s significance and subsequent functional impairment.
Society, Endocrine Society of Australia and Osteoporosis Australia. Vitamin D and adult
bone health in Australia and New Zealand: a position statement. Med J Aust, 2005; 182: Chronic pain’s management or mismanagement is a yardstick of the excellence of that important
281–4. bond—the doctor–patient relationship. GPs naturally want to alleviate patients’ pain and have
historically used analgesic agents (notably opioids) that have ultimately caused harm. Evidence
11 Ebeling PR et al. An evidence-informed strategy to prevent osteoporosis in Australia. Med is increasingly proving that medication has a reduced role in chronic pain management, in favour
J Aust, 2013; 198(2): 90–1. of non-pharmacological therapies and active self-management.
12 Gillespie LD et al. Interventions for preventing falls in older people living in the
community. Cochrane Database Syst Rev, 2012; (9): CD007146.

13 Del Mar CB et al. Natural remedies for osteoporosis in postmenopausal women. Med J
Key facts and checkpoints1,2
Aust, 2002; 176: 182–3.
Twenty per cent of GP consultations in Australia involve chronic pain

Chronic pain affects 1 in 5 Australians aged 45 and older

In 2020, the financial cost of chronic pain was estimated to be $144 billion
(approximately 10% of Australia’s GDP)

The majority (68%) of Australians with chronic pain are of working age

Fifty-six per cent of people with chronic pain have functional restrictions as a
result

Forty-five per cent of people with chronic pain also have depression and anxiety

Suicide is reported to be two to three times higher in people with chronic pain

Best practice does not support long-term use of medication for chronic pain
management
 Australian data in 2018 revealed that opioids accounted for 3 deaths per day, the
majority of which were unintentional and due to prescription opioids
Definitions
Pain is defined as ‘an unpleasant sensory and emotional experience associated with, or
resembling that associated with, actual or potential tissue damage’.
It is worth noting that pain and nociception are different phenomena. The International
Association for the Study of Pain has added that individuals learn the concept of pain, which is a
personal experience influenced by biological, psychological and social factors. A person’s report
or experience of pain should be respected.
The box below defines the variety of types of pain.
Glossary of terms
Allodynia Pain due to a stimulus that does not normally provoke pain.
Mechanical—light touch feels painful.
Temperature—hot/cold stimulus (normally not painful) is painful.
Anaesthesia dolorosa Pain in an area or region that is anaesthetic.
Analgesia Absence of pain in response to stimulation that would normally be
painful.
Breakthrough pain Pain which occurs between regular doses of analgesics and
reflects increase in pain level above set baseline.
Causalgia A syndrome of sustained burning pain, allodynia and hyperpathia after a
traumatic nerve lesion, often combined with vasomotor and sudomotor
dysfunction and later trophic changes (now known as complex regional pain
syndrome II).
Central pain Pain associated with a lesion of the central nervous system.
Central sensitisation Increased responsiveness of nociceptors in the central
nervous system resulting in hypersensitivity to stimuli.
Dysaesthesia An unpleasant abnormal sensation, whether spontaneous or evoked
(e.g. formication—a feeling like ants crawling on the skin, burning, tingling).
Hyperaesthesia Increased sensitivity to stimulation, excluding the special senses.
Hyperalgesia An increased response to a stimulus that is normally painful (i.e.
painful stimulus feels much more painful than expected, such as firm finger
pressure).
Hyperpathia A painful syndrome, characterised by an increased reaction to a
stimulus, especially a repetitive stimulus, as well as an increased threshold for
sensory detection.
Hypoaesthesia Decreased sensitivity to stimulation, excluding the special Page 943
senses.
Hypoalgesia Diminished pain in response to a normally painful stimulus.
Incident pain Pain that occurs on, or is exacerbated by, an activity (e.g. coughing,
wound dressing, movement, weight-bearing).
Neuralgia Pain in the distribution of a nerve or nerves.
Neuritis Inflammation of a nerve or nerves.
Neuropathic pain Pain caused by a lesion or disease of the somatosensory
nervous system (peripheral or central).
Neuropathy A disturbance of function or pathological change in a nerve.
Nociceptive pain Pain arising from stimulation of normal superficial or deep tissue
pain receptors (nociceptors) from tissue injury or inflammation. From Latin
‘nocere’, to injure.
Nociplastic pain Pain arising from altered function of the nociceptive pathways or
cerebral cortex in the absence of a nociceptive stimulus or neuropathic lesion.3
Paraesthesia Abnormal sensation, whether spontaneous or evoked.
Phantom pain The sensation of the presence of a missing body part.
Somatoform pain Pain that has the qualities of pain arising from a physical
(somatic) cause but not attributable to any objectively demonstrable organic
causation (i.e. the expression of psychological distress as physical symptoms).
Visceral pain A type of nociceptive pain that originates from activation of
nociceptors of internal viscera (organs).
Origins of pain3
In general terms, the origin of conscious pain can be subdivided into three broad types—
nociceptive, neuropathic and nociplastic.

1. Nociceptive pain is pain arising from stimulation of superficial or deep tissue pain receptors
(nociceptors) in response to a noxious stimulus. It requires an intact nervous system.
Nociception is stimulation of peripheral nociceptors (i.e. nerve endings sensitive to a noxious
stimulus).

2. Neuropathic pain is pain caused or initiated by a primary lesion or dysfunction (i.e. damage)
in the peripheral or central nervous system. It can be subdivided into central pain, when the
primary lesion is in the central nervous system, or peripheral pain. Neuropathic pain is a form
of neurogenic pain in which there is actual nerve cell or axonal damage due to inflammation,
trauma or degenerative disease. It is typically a constant burning, episodic shooting or electric
pain.

3. Nociplastic pain is pain that arises from altered nociception despite no evidence of a
nociceptive stimulus or lesion of the somatosensory system. It is a diagnosis of exclusion and
central sensitisation is the key contributor. The experience of nociplastic pain depends on the
affected pathways—it can be variable and non-specific, localised or widespread.

It should be emphasised that these types overlap and patients usually have more than one type of
pain.

A conceptual approach to the components of pain is illustrated in FIGURE 82.1 .

FIGURE 82.1 A conceptual approach to the components of pain: a

biopsychosocial model

Developing an understanding of pain depends on the knowledge of relationships between

nociception, pain, suffering and pain behaviour. The first three components cannot be measured
or completely understood in individuals and only the pain behaviour can be observed and
measured by parties other than the patient.

Categories of pain
Pain can be subcategorised as:

acute pain

cancer/palliative pain

chronic non-cancer pain (CNCP)

Acute pain for 4 weeks more than the expected time of recovery.

Acute pain is pain of recent onset and short duration that usually has an obvious pathological
cause and typically resolves with resolution of the primary cause.
Transition from acute to chronic pain4
Page 944
The transition from acute to chronic pain is a complex, multifactorial process.
Chronic non-cancer pain, in itself, can be classified as a disease state. Over time, the experience
of pain can shift from a peripheral sensory experience to a central nervous system response.5
This process is called central sensitisation, which occurs as a result of upregulation of receptors
in neurones from persistent stimulation. The process can continue even after healing of the
original trigger.3 Central sensitisation causes long-term central nervous system changes which
present clinically as hyperalgesia and allodynia.

It is unclear why chronic pain develops in some patients with an acute injury, illness or trauma, Central sensitisation is usually a feature of chronic pain, which presents clinically as
but doesn’t develop in others. Risk factors are outlined in TABLE 82.1 .
hyperalgesia or allodynia.3
Early and appropriate acute pain management by GPs, with patient education and support, may
reduce the transition from acute to chronic pain. Chronic pain is a complex condition that is best understood using a sociopsychobiomedical
framework. Chronic pain affects, and is affected by, multiple dimensions of a patient’s life,
including:
Table 82.1 Risk factors associated with the transition from social environment
acute to chronic pain:4 thoughts and emotions
physical health and deconditioning
sleep
Female gender
nutrition
Smoking
Obesity Underlying pathology
Sedentary behaviour
Low education level When it becomes apparent that a patient’s pain has become chronic, it is critical to ensure that
underlying pathology has been appropriately assessed and management optimised. Continue to
Low socioeconomic status review the nature of the pain and monitor for new pathology.
Receiving compensation for a work-related injury or illness
Disability Common causes of CNCP include:
Multimorbidity
musculoskeletal injuries
Genetic predisposition
Pre-existing chronic pain arthritis
Pre-existing opioid use
migraines
Catastrophising
Depression/anxiety endometriosis
Stress
Conditions that have a higher rate of resulting in chronic pain include:
Poor coping skills
nerve injuries

herpes zoster
Chronic non-cancer pain (CNCP)
chronic inflammatory conditions (e.g. spondyloarthropathies)
Chronic pain may be defined as pain present for a period greater than 3 months, or pain present
Cancer/palliative care pain especially for chronic pain requiring treatment outcomes. This involvement also helps the
patient.
Pain occurs in the majority of patients with advanced cancer and is often a significant symptom
for patients with life-limiting illnesses. Treatment of cancer pain and pain in the palliative care Unidimensional scales
setting requires a unique approach (see CHAPTER 126 ).
Visual analogue scales (VAS), which are used as a research tool and well validated, can be
useful in recording both acute and chronic pain levels. An example of a simple VAS linear scale
Assessing and measuring pain on which the patient indicates the severity of their current pain is shown in FIGURE 82.2 . A
pictorial (faces) scale applicable to children is shown in FIGURE 82.3 .
A key component of chronic pain management is a comprehensive assessment. Pain is a
subjective symptom and generates considerable emotion and frustration, and thus can be difficult
to assess.

The history
The classic historical approach is still an important approach. Patients can use the PQRST
approach to describe their pain, namely, P—provoking factors (and palliative), Q—quality, R—
radiation, S—severity and T—timing. Most practitioners use the SOCRATES approach to pain,
namely:

S Site

O Onset and offset

C Character

R Radiation

A Associated symptoms

T Timing

E Exacerbating and relieving factors

S Severity

Use of body charts

To assist with diagnosis and ongoing management of pain, it is helpful to get patients to Page 945
chart the site and radiation of their pain on body charts—either total body charts or regional
charts (e.g. the head). This is particularly helpful for spinal pain with referral patterns and
fibromyalgia.
FIGURE 82.2 Assessing pain using a visual analogue scale and body chart:
ideal for lumbosacral pain
Measurement of pain
Despite its subjective nature, it is good to record some type of repeatable measurement,
 chronic pain is difficult to cure but can be successfully managed

the role of medication is considered small

the most successful therapies are non-pharmacological

Table 82.2 Factors that influence the experience of

pain8
FIGURE 82.3 Visual analogue scale: a faces pain rating scale ideal for
children
Increasing factors
Multidimensional scales
Fatigue
These scales, which are usually employed for chronic pain, take into account several aspects of Anger
pain perception in addition to assessing functional effects and levels of disability. Examples Depression
include the: Loneliness
McGill Pain Questionnaire Challenging home or work environments

Pain Disability Index Reducing factors

Happy or contented disposition
Form 36 Health Survey (SF-36)
Drive to return to work
Oswestry low back pain questionnaire Receiving empathy
Companionship
The holistic approach to chronic pain Adequate sleep
Pleasant diversions
management Good home support

Management of chronic pain usually requires a multidimensional approach in which biological

(pathological), psychological and social contributions to pain behaviour are evaluated and
managed.
Patient education
The most powerful therapy is adequate explanation, emphasising the complex interaction
between the biological, psychological and social components that contribute to the experience of
pain (see TABLE 82.2 ).6
If central sensitisation has occurred, it may be helpful to explain that pain is generated Page 946
by the brain and that central sensitisation can produce severe symptoms that are real but
not generally due to structural issues.7
Establish realistic expectations early in the treatment process:
Active self-management
Studies have indicated that the best care for chronic pain involves self-management by the
patient with the support of a multidisciplinary team.9 Self-management should include a
multidimensional approach to improve function despite pain, which in turn may lead to reduced
pain intensity.10
Motivational interviewing techniques are appropriate to assist patients in identifying their own
treatment goals and then working to achieve these goals.
A multidimensional approach
Assessing how pain affects a patient’s life can help to consolidate their understanding that the
goals of pain management should go beyond pain relief alone.
 Source: Reproduced with permission from Medicinewise News: If not opioids, then what? NPS Medicinewise, 2 October 2019. Available from:
When making treatment goals, consider the following areas:10 https://www.nps.org.au/news/if-not-opioids-then-what, accessed April 2021.

thinking patterns/emotional health

Multidisciplinary management
physical activity
Once goals are agreed upon, a management plan can be formulated and, where possible, involve
social connection collaboration between the GP, allied health professionals and specialist services.

sleep Page 947

Allied health
nutrition
Psychologists—address negative thinking, mood and behaviour
work/study
Physiotherapists—manage physical contributors to pain
Non-pharmacological therapies
Exercise physiologists—support an increase in physical activity
Appropriate non-pharmacological therapies for CNCP are listed in TABLE 82.3 .
Occupational therapists—address functional restrictions

Nurses—provide education and support

Table 82.3 Non-pharmacological therapies for chronic non-cancer pain9 Pharmacists—provide medication counselling if medication is used

Dietitians—encourage healthy diet

Physical therapies general strengthening and aerobic exercise
(graded up slowly)
Multidisciplinary pain clinics10
hydrotherapy
physiotherapy Referral to specialist pain management services may be warranted when there is patient
occupational therapy complexity or lack of progress with GP-based care. Referral is also appropriate for patients
tai chi experiencing a high level of psychological distress and major functional impairment.
yoga Multidisciplinary pain clinics vary and may involve pain specialists, psychiatrists and several
Psychological acceptance commitment therapy (ACT) allied health teams.
therapies attentional techniques (distraction from the pain)
biofeedback Medication used in chronic pain11
cognitive behavioural therapy (CBT)
counselling Medication is a second-line strategy for management of chronic non-cancer pain (CNCP) and
should only be used in conjunction with social, psychological and physical management
mindfulness-based stress reduction
techniques.
relaxation training
Medication options include analgesics and adjuvants. Adjuvants are drugs with analgesic
Other treatment activity pacing to regulate activity levels of properties, although pain is not their primary indication.
options everyday tasks
acupuncture Note: Be mindful that prescribing medication may encourage a passive approach to pain
attending a group pain management program management.

Medication used to treat CNCP include:

 Analgesics Usual dosage:

paracetamol 1 g (o) 4 hourly (max. 4 g/day)

NSAIDs, including aspirin and cyclo-oxygenase-2 (COX-2) specific inhibitors or

opioids 1.33 g modified release (o) 8 hourly (max. 4 g/day)

Adjuvants NSAIDs
antidepressants, TCAs (e.g. amitriptyline), SNRIs NSAIDs inhibit synthesis of prostaglandins by inhibiting cyclo-oxygenase (COX) present in
COX-1 and COX-2. They can be used instead of or in addition to paracetamol.
gabapentinoids (gabapentin, pregabalin)
Unfortunately, the use of NSAIDs involves a high incidence of side effects, ranging from the
NMDA blockers (ketamine) trivial to the lethal, with many deaths from bleeding ulcers, especially in the elderly. Other
alpha2 agonists (clonidine) adverse effects include abdominal pain, renal impairment, bronchospasm, fluid retention,
hypertension and cardiovascular events. It should be noted that naproxen does not appear to
increase the risk of cardiovascular events.
cannabinoids
TABLE 82.4 shows the classification of NSAIDs.
Choice of medication
CNCP often involves more than one pain type. Irrespective of underlying nociceptive or
neuropathic pathology, central sensitisation is usually a major contributor to chronic pain. Table 82.4 Classification of NSAIDs12
Medications are less effective at managing the central sensitisation component of chronic pain.

Paracetamol and NSAIDs are indicated for nociceptive pain Action Example
Non-selective inhibitors of COX-1 and COX-2, mainly in Paracetamol
Adjuvants are indicated for neuropathic pain CNS

Opioids have a limited role in chronic pain, regardless of pain type Non-selective inhibitors of COX-1 and COX-2, acting in Aspirin
both CNS and periphery Ibuprofen
There is no clear evidence for the use of combination drug therapy (i.e. multimodal analgesia) in Naproxen
CNCP.
Diclofenac

Analgesics used in chronic pain Selective NSAIDs

Specific inhibitors of COX-2 Celecoxib
If analgesics are used, they are usually required in the short- to medium-term until a patient has
Etoricoxib
achieved self-management. Once self-management strategies have been achieved, the goal is to
deprescribe analgesics. Parecoxib
Preferential inhibitors of COX-2 over COX-1 Meloxicam
Paracetamol
Paracetamol is metabolised by the liver and has an excretion half-life of approximately 4 hours. Note: COX = cyclo-oxygenase

Adverse effects are uncommon but gastrointestinal discomfort such as dyspepsia and nausea can
occur occasionally. It should be administered with caution in patients with kidney or hepatic The coxibs are a group of NSAIDs synthesised to inhibit COX-2 specifically. They are Page 948
dysfunction. on a par as an analgesic with the COX-1 inhibitors. Their gastrointestinal adverse reactions are
less, but they have all the other adverse effects and drug interactions of COX-1 inhibitors. The
cardiovascular problems, including increased blood pressure, thrombosis (fatal myocardial buprenorphine 5 mcg/hour patch, every 7 days (max. 20 mcg/hour)
infarction and stroke) and impairment of kidney function experienced with rofecoxib (withdrawn
for safety reasons in 2004) indicate the potential problems of these agents. or

morphine (modified release) 5–10 mg (o) daily or bd (max. 40 mg/day)

Prescribing recommendations
or
First-line options include:
oxycodone (modified release) 5 mg (o) daily or bd (max. 30 mg/day)
celecoxib 100–200 mg (o) bd
or
or
tapentadol (modified release) 50 mg (o) daily or bd (max. 300 mg/day)
ibuprofen 200–400 mg (o) tds
or
or
tramadol (modified release) 50 mg (o) daily or bd (max. 400 mg/day)
naproxen 250–500 mg (o) bd
Review regularly and cease treatment if ineffective. Opioids should not be prescribed for longer
If no pain relief has occurred after one week, cease treatment and consider other management
than 12 weeks, unless under specialist advice.
strategies. If the NSAID has provided adequate relief, attempt deprescribing at regular intervals
to reduce the risk of adverse effects.
Adjuvants
Aspirin
There is evidence for the use of adjuvants for neuropathic pain, although limited evidence for
Aspirin has both analgesic and anti-inflammatory activity and has an extremely short half-life. their use for nociplastic pain. Target doses for neuropathic and nociplastic pain are similar;
The major problems with aspirin are gastrointestinal discomfort, ulceration and bleeding. however, slower dose titration is required for patients with nociplastic pain because they often
experience increased drug sensitivity.
Usual dosage:
Antidepressants including tricyclic antidepressants (TCAs) and SNRIs appear to relieve pain
600 mg (o) 4 hourly (max. 4 g/day) independently of their mood-altering effects.

Opioids Although there is limited evidence for combination therapy, it may be necessary to use two
adjuvants concurrently. Trial deprescribing every 3 to 6 months.
Opioids provide little, if any, benefit for CNCP and all have similar efficacy. Pain intensity may
actually reduce if opioids are discontinued. TCAs
Opioids include codeine, tapentadol, oxycodone, buprenorphine, tramadol—and stronger ones— amitriptyline or nortriptyline 5–12.5 mg (o) nocte (max. 150 mg/day)
morphine, fentanyl, hydromorphone and methadone. Tapentadol is a new centrally acting opioid
with some benefits for neuropathic pain. SNRIs
Adverse effects, which are common (approximately 80%), include nausea and vomiting, duloxetine 30 mg (o) daily (max. 120 mg/day)
constipation, dysphoria and hyperalgesia. Harmful effects include dependence, falls, cognitive
effects, motor vehicle accidents, respiratory depression, accidental overdose and death. or

Before prescribing opioids, assess the patient’s risk of opioid misuse. A written agreement is venlafaxine (extended release) 37.5–75 mg (o) daily (max. 225 mg/day)
highly recommended.
Gabapentinoids
If a short-term trial is appropriate, initially use:
 gabapentin 100–300 mg (o) nocte initially (max. 3600 mg/day in divided doses)
or
pregabalin 25–75 mg (o) daily initially (max 300 mg bd)16
Note: Regarding pregabalin and gabapentin: Page 949
They are renally excreted, therefore use with caution in the elderly and renally impaired.
Try a small test dose at night in the elderly.
Side effects include drowsiness, dizziness and generalised fatigue.
Benefit has been shown to be limited, while side effects are common.
They have potential for misuse and dependence, and can cause withdrawal symptoms if ceased
suddenly.
Evidence for other anti-epileptic drugs such as lamotrigine, topiramate and valproate in chronic
pain is very limited. Carbamazepine has been used in trigeminal neuralgia.6
Ketamine
Ketamine (by oral, IM and IV routes) has been used by pain specialists for CNCP but evidence
of benefit is limited. Neuropsychiatric adverse effects can be very disturbing. Effects on vital
signs or consciousness levels have been reported.13
Clonidine
Clonidine modulates noradrenergic inhibition of pain transmission and has been used by
specialists as an adjuvant for CNCP. If used in the long term, abrupt cessation can result in
rebound hypertension.
Cannabinoids
The general public has shown increasing interest in the role of cannabinoids for CNCP.
Currently, there is insufficient evidence to justify endorsement of their clinical use. There are
also concerns about adverse events, including impaired respiratory function, psychotic symptoms
and cognitive impairment.14
Deprescribing opioids
Opioids cause significant harm, and deprescribing opioids should be attempted even in long-term
legacy patients.
Deprescribing opioids requires a combination of strong patient motivation and support by the
practitioner with close observation.
Side effects vary depending on the rate of dose reduction and include a short-term increase in
pain and opioid withdrawal effects (agitation, sleep disturbance, nausea/vomiting, diarrhoea,
sweating, lacrimation).
Deprescribing can take months. As a general guide, perform a weekly stepwise dose reduction. A
weekly reduction of 10% of the original opioid dose is usually handled well by patients. When a
third of the original dose is reached, slow the taper to half the previous rate.
Adjuvants may assist with withdrawal symptoms such as agitation and sleep disturbance.
Procedural interventions for chronic pain
Only consider an invasive procedure for patients who have realistic treatment goals and have
used first-line management strategies without significant improvement. Expert advice is
recommended.
Procedural interventions for chronic pain include:
percutaneous radiofrequency neurotomy
neuromodulation (spinal cord stimulation)
epidural block
Pain in children
The management of pain in children requires considerable sensitivity and wisdom. The
principles of CNCP treatment for children are the same as for adults, with active self-
management including the child’s contribution as well as the family’s.
The most important measures of progress are school attendance and participation in physical
activities with peers.
Assessment of pain
This is very important in children of all ages and should involve a careful history and
examination. Self-reporting of pain is reliable in children over 4 years of age.
Scaling strategies can be used—the modified faces pain scale (see FIG. 82.3 ) is useful in
younger children, while older children and teenagers can use a visual analogue scale.
Medication used for children with CNCP
As for adults, medication is considered a second-line therapy in the management of CNCP in
children.
A short-term trial of paracetamol or an NSAID may be considered for children struggling to
achieve active self-management. When considering other medication such as opioids or
adjuvunts, specialist input in advised.
There is insufficient evidence that gabapentinoids, TCAs or SNRIs are effective for pain
management in children. If an adjuvant is trialled, gabapentin is generally preferred.
CNCP management in the elderly
Management of chronic pain in the elderly is particularly challenging. Elderly patients Page 950
experience both higher rates of chronic pain, as well as increased medication adverse effects. The
principles of management are the same as that for adults, with added awareness of the risk of
medication harm.
Some general rules and tips
Start with 25–50% of the usual dose and titrate upwards according to response.
Regularly monitor your patient’s analgesic requirements and promptly deprescribe any
ineffective medication.
Avoid using combined drug therapy where possible.
Complex regional pain syndrome14
Complex regional pain syndrome (CRPS) is a chronic pain syndrome in which the severity of
pain is disproportionate to the injury.
CRPS affects the limbs—upper limbs more frequently in adults and lower limbs more frequently
in children. The most common trigger is fracture, while other triggers may be trivial or difficult
to identify.
Clinical features include vasomotor changes (skin colour or temperature), oedema, sweating
asymmetry, motor dysfunction and trophic changes (hair, nail, skin).
First-line treatment is rehabilitation aimed at restoring function to the affected limb. If self-
management is not achieved, consider referral to allied health providers or multidisciplinary pain
service.
Ascorbic acid (vitamin C) 500–1000 mg (o) daily for 50 days may be considered following
injury for those at increased risk.14
Practice tips
It is vital to establish a therapeutic alliance and acknowledge the distress caused
by symptoms.
Educate that chronic pain is a disease state in itself, with central sensitisation a
common feature.
Consider scheduling regular appointments to support patients as they achieve
self-management.
Recommend non-pharmacological therapies as first-line treatment.
Set treatment goals that address sociopsychobiomedical factors affecting the
patient’s pain.
Avoid prescribing opioids, which rarely justify the risk of dependence and
overdose.
Beware the ‘set and forget’ approach to prescription, whereby repeat prescriptions
are issued without considering the possibility of inefficacy and a trial of
deprescribing.
Resources
Hunter Integrated Pain Service (HIPS): www.hnehealth.nsw.gov.au/Pain/Pages/Pain.aspx.
painHEALTH: www.painhealth.csse.uwa.edu.au.
References
1 Painaustralia. Painful Facts (2020). Available from: www.painaustralia.org.au/about-
pain/painful-facts, accessed April 2021.
2 Australian Institute of Health and Welfare. Chronic Pain in Australia. Cat. no. PHE 267.
Canberra: AIHW, 2020.
3 Understanding pain [published 2020]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed April 2021.
4 The transition from acute to chronic pain [published 2020]. In: Therapeutic Guidelines
[digital]. Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed
April 2021.
 5 Medicinewise News: Chronic pain. NPS Medicinewise, 1 June 2015. Available from: Page 951
www.nps.org.au/news/chronic-pain, accessed April 2021.

6 Cohen ML. Principles of prescribing for persistent non-cancer pain. Aust Prescr, 2013; 36:
113–15.

7 Bruggink L, Hayes C, Lawrence G, Brain K, Holliday S. Chronic pain: overlap and

specificity in multimorbidity management. Aust J General Practice, 2019; 48(10): 689–92.

8 Crammond T. Pain relief. In: MIMS Disease Index (2nd edn). Sydney: MIMS Publishing,
1996: 380–5.

9 Medicinewise News: If not opioids, then what? NPS Medicinewise, 2 October 2019.
Available from: https://www.nps.org.au/news/if-not-opioids-then-what, accessed April
2021.

10 General principles of chronic pain management [published 2020]. In: Therapeutic

Guidelines [digital]. Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au,
accessed April 2021.

11 The role of analgesics in chronic non-cancer pain [published 2020]. In: Therapeutic
Guidelines [digital]. Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au,
accessed April 2021.

12 Pain and Analgesia [updated 2020]. In: Therapeutic Guidelines [digital]. Melbourne:
Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed January 2018.

13 Porter KM et al. The role of inhaled methoxyflurane in acute pain management. Open
Access Emerg Med, October 2018; 10: 149–64.

14 Faculty of Pain Medicine. Statement on ‘Medicinal Cannabis’ with particular reference to

its use in the management of patients with chronic non-cancer pain. Australian and New
Zealand College of Anaesthetists, 2019. Available from:
www.anzca.edu.au/getattachment/d1eb1074-ef9c-41e6-a1af-31d82b70bcfa/PM10-
Statement-on-Medicinal-Cannabis-with-particular-reference-to-its-use-in-the-
management-of-patients-with-chronic-non-cancer-pain, accessed April 2021.

15 Managing specific pain syndromes [published 2020]. In: Therapeutic Guidelines [digital].
Melbourne: Therapeutic Guidelines Limited; 2020. www.tg.org.au, accessed April 2021.

16 Bashford GM. The use of anticonvulsants for neuropathic pain. Australian Prescriber,
1999; 22(6): 140–1.

Part 6 Child and adolescent health
83 An approach to the child
Page 952
In every child who is born, under no matter the circumstances, and of no matter what
parents, the potentiality of the human race is born again; and in him, too, once more, and of
each of us, our terrific responsibility towards human life; towards the utmost idea of goodness.
JAMES AGEE (1909–1955)
Seeing a child as a patient means you are dealing with at least one extra person in the room.
Communication and rapport building need to be undertaken with both the child and those who
have brought the child (usually the parents). By engaging the child, you will usually win over the
parent. Parents are often apprehensive about bringing their child to the doctor, concerned the
child might misbehave or do or say something to embarrass them. By displaying a natural
interest in and ease with the child, a tolerance of child behaviour (or misbehaviour) and being
generally ‘child friendly’, the consultation is more likely to be successful.
Engaging children can be done from the moment they are called from the waiting room. All of
the usual rapport-building skills we use for adults (see CHAPTER 3 ) can be utilised with
children. Respect, genuine interest in them, active listening and use of body language all matter
with children, perhaps even more so than for adults as children naturally have less developed
communication skills.
There is also a different style of communication required and this is age dependent. Infants will
be dominated by emerging object permanence skills (e.g. playing peek-a-boo), attachment (they
will constantly refer to their parent), separation and stranger anxiety. Toddler and preschooler
communication is dominated by play, particularly ‘pretend’ or ‘imaginative’ play. Pretending to
be a scary bear, to see animals in their ears when you examine them or to believe they are a
different age from what they actually are will fire their imagination and make them curious in
and more comfortable with you.
Primary school-aged children are old enough to have conversations about their pets, favourite
toys, TV shows or movies (merchandised clothing they are wearing or accessories they are
holding can give clues to these), their friends, teachers or school. Other rapport-building
strategies include:
greeting children as well as parents
asking their name (even though you already know it) and/or what they like to be called
asking their age (even though you already know it)
asking about their pets
if present, engaging the siblings too (e.g. asking a small child whether he or she is helping
Mummy with the new baby)
talking at their level, not down to them (e.g. child sitting on parent’s knee, or the doctor
squatting down or sitting on the floor)
having a vague idea of current children’s films, TV shows and their characters (e.g. Disney
movies, Thomas the Tank Engine, The Wiggles)
having toys in the room, both displayed for them to play with and for you to bring out as a
surprise
having special stickers or stamps (e.g. for the backs of hands)
blowing bubbles (particularly to distract post-vaccination)1
showing them and letting them hold examination equipment before you use it
treating them as individuals to be engaged, not clinical puzzles to be solved (this is especially
important for children with special needs, who may have greater communication challenges
and may also be more used to being treated as a medical condition)
All of this effort will help set the scene for easier history taking and physical examination.
Parent–child interaction
It is advisable to observe carefully the parent–child interaction at all times, including in the
waiting room (sometimes you will hear a dysfunctional parent–child interaction before you see
it!). The parent’s manner in talking to and handling the child will provide useful clues about any
possible problems in terms of the parent’s ability to nurture the child adequately, and how well
they are coping, especially in the postnatal period.2
An approach to the parent
Parenting has recently become a lot more complicated. Controversies have arisen and Page 953
flourished, such as those over vaccination and supposed adverse reactions or parenting styles
(e.g. ‘attachment parenting’). Much of this is driven by information on the internet, with mothers
in particular increasingly spending time on ‘mummy blogs’ and parenting websites.
Cultural backgrounds also often strongly influence attitudes to aspects of parenting such as how As mentioned above, the approach to the child and parent from the waiting room will help
to communicate with children, diet, discipline and punishment, and the role of the mother or determine the ease or difficulty of examining a child. A good aphorism is ‘Win the child, win the
father. mother (parent)’.

Being a parent is laden with intense emotion, and this intensity can lead to very concrete beliefs
about different parenting issues (e.g. that MMR vaccination causes autism, that hitting a child
Observation
improves behaviour). Being aware of these possibilities and not ‘putting your foot in it’ by
As always, observation is critical. Not only looking at the parent–child interaction, but closely
making assumptions about parenting attitudes can help avoid communication breakdowns with
observing the appearance and behaviour of a child can give a multitude of clues as to how unwell
the parents of your paediatric patients.
the child is. What is the child’s general appearance? How active and alert is the child? How
interactive is he or she with you and the parents? Is he or she breathing comfortably? Does the
History child look distressed? This information should be recorded in the medical record as the first line
of examination (i.e. above the ‘obs’).
Obtaining information in the following sequence is recommended:
Growth and development should always be assessed when seeing a child (see below) and the
presenting problem or problems (focus on this first): growth parameters are part of the general measurable observations. Temperature should be
recorded, but the presence of fever, the degree of fever and the response to antipyretics are poor
allow the parents to elaborate without interruption predictors of serious disease.3 Also, the thermometers parents and GPs use are often unreliable—
tympanic and per axilla thermometers miss a lot of raised temperatures found on PR
be a listener measurement.4 A raised temperature tells you something is going on, and not much else. Caveats
to this are children in the first 3 months of life, or those in special circumstances (such as those
never judge a parental concern as trivial (especially with a new parent) who are immunocompromised) or the worrying presentation of fever combined with drowsiness
and pallor (see CHAPTER 89 ).
past history:
Increasingly, oxygen saturation measurement is being incorporated into the general observations
medical and surgical history of children in general practice, especially in children with a significant respiratory infection.
pregnancy, birth and neonatal history Observations of the child, parents and their interactions are also important in picking up clues
concerning psychosocial issues, such as family dysfunction (e.g. marital issues, drug and alcohol
vaccination history, medications and allergies
abuse in parents, mental health issues in parents), attachment issues, neglect or child abuse (see
fa